Locus Specific Mutation Databases

Information If you know of an LSDB, which is not included in this list, you can submit it here.

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A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

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9178 entries on 92 pages. Showing entries 1 - 100.
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AscendingSymbol     

Database name     

Curators     

Rating     

Unique variants     

Software     

Last updated     
A-GAMMA3'E ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=A-GAMMA3'E[gene]

Rating: 3Rating: 3Rating: 3Rating: 3 7 ClinVar 2020-09-05
A1BG ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=A1BG[gene]

Rating: 2Rating: 2Rating: 2Rating: 2 20 ClinVar 2019-03-05
A1BG Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/A1BG
GVsharedLOVD, with Curator vacancy
Database manager
Rating: 2Rating: 2Rating: 2Rating: 2 6 LOVD 3.X 2020-07-16
A1BG BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/A1BG
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
A1BG LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/A1BG
Graham Taylor
University of Melbourne
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2013-06-11
A1BG-AS1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=A1BG-AS1[gene]

Rating: 2Rating: 2Rating: 2Rating: 2 11 ClinVar 2019-02-25
A1BG-AS1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/A1BG-AS1
LOVD-team, but with Curator vacancy
LUMC
Rating: 1Rating: 1Rating: 1Rating: 1 - LOVD 3.X Unknown
A1BG-AS1 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/A1BG-AS1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
A1BG-AS1 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/A1BG-AS1
Graham Taylor
University of Melbourne
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2013-06-11
A1BG-AS1 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/A1BG-AS1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2017-10-26
A1CF ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=A1CF[gene]

Rating: 2Rating: 2Rating: 2Rating: 2 24 ClinVar 2020-04-07
A1CF Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/A1CF
LOVD-team, but with Curator vacancy
LUMC
Rating: 1Rating: 1Rating: 1Rating: 1 - LOVD 3.X 2016-10-18
A1CF BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/A1CF
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
A1CF BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/A1CF
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
A1CF LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/A1CF
Graham Taylor
University of Melbourne
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2013-06-13
A1CF BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/A1CF
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2017-10-26
A1CF BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/A1CF
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2018-10-01
A2LD1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/A2LD1
Global Variome, with Curator vacancy
Database manager
Rating: 3Rating: 3Rating: 3Rating: 3 40 LOVD 3.X 2020-09-15
A2M ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=A2M[gene]

Rating: 2Rating: 2Rating: 2Rating: 2 55 ClinVar 2020-04-07
A2M Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/A2M
LOVD-team, but with Curator vacancy
LUMC
Rating: 2Rating: 2Rating: 2Rating: 2 4 LOVD 3.X 2020-07-02
A2M BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/A2M
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2018-10-01
A2M PharmGKB - Pharmacogenomics Knowledge Implementation
https://www.pharmgkb.org/search/browseAlpha.action?browseKey=variantAnnotatedGenes
PharmGKB Team
Shriram Center for Bioengineering and Chemical Engineering
Rating: 0Rating: 0Rating: 0Rating: 0 - Other Unknown
A2M LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/A2M
Graham Taylor
University of Melbourne
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2013-06-13
A2M BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/A2M
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
A2M BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/A2M
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2017-10-26
A2M BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/A2M
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
A2M-AS1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=A2M-AS1[gene]

Rating: 2Rating: 2Rating: 2Rating: 2 12 ClinVar 2019-02-25
A2M-AS1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/A2M-AS1
LOVD-team, but with Curator vacancy
LUMC
Rating: 1Rating: 1Rating: 1Rating: 1 - LOVD 3.X Unknown
A2M-AS1 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/A2M-AS1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
A2M-AS1 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/A2M-AS1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
A2M-AS1 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/A2M-AS1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2017-10-26
A2M-AS1 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/A2M-AS1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2018-10-16
A2ML1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=A2ML1[gene]

Rating: 3Rating: 3Rating: 3Rating: 3 491 ClinVar 2020-10-03
A2ML1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/A2ML1
Global Variome, with Curator vacancy
Database manager
Rating: 3Rating: 3Rating: 3Rating: 3 107 LOVD 3.X 2020-09-15
A2ML1 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/A2ML1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2018-10-01
A2ML1 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/A2ML1
Graham Taylor
University of Melbourne
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2013-06-13
A2ML1 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/A2ML1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
A2ML1 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/A2ML1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2017-10-26
A2ML1 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/A2ML1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
A2MP1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/A2MP1
LOVD-team, but with Curator vacancy
LUMC
Rating: 1Rating: 1Rating: 1Rating: 1 - LOVD 3.X 2018-11-03
A2MP1 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/A2MP1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2018-10-01
A2MP1 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/A2MP1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2017-10-26
A2MP1 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/A2MP1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
A3GALT2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=A3GALT2[gene]

Rating: 2Rating: 2Rating: 2Rating: 2 12 ClinVar 2020-04-07
A3GALT2 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/A3GALT2
LOVD-team, but with Curator vacancy
LUMC
Rating: 1Rating: 1Rating: 1Rating: 1 - LOVD 3.X 2019-12-04
A3GALT2 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/A3GALT2
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2017-10-26
A3GALT2 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/A3GALT2
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
A3GALT2 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/A3GALT2
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
A3GALT2 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/A3GALT2
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2018-11-23
A4GALT ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=A4GALT[gene]

Rating: 2Rating: 2Rating: 2Rating: 2 49 ClinVar 2020-04-07
A4GALT Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/A4GALT
Global Variome, with Curator vacancy
Database manager
Rating: 2Rating: 2Rating: 2Rating: 2 1 LOVD 3.X 2020-07-17
A4GALT LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/A4GALT
Graham Taylor
University of Melbourne
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2013-06-10
A4GALT BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/A4GALT
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2018-11-13
A4GALT BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/A4GALT
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
A4GALT BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/A4GALT
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2017-10-26
A4GALT BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/A4GALT
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
A4GNT ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=A4GNT[gene]

Rating: 2Rating: 2Rating: 2Rating: 2 22 ClinVar 2020-01-06
A4GNT Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/A4GNT
LOVD-team, but with Curator vacancy
LUMC
Rating: 2Rating: 2Rating: 2Rating: 2 1 LOVD 3.X 2020-06-15
A4GNT BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/A4GNT
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
A4GNT BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/A4GNT
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
A4GNT BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/A4GNT
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2018-10-07
A4GNT BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/A4GNT
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2017-10-26
A4GNT LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/A4GNT
Graham Taylor
University of Melbourne
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2013-06-17
AAAS ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=AAAS[gene]

Rating: 3Rating: 3Rating: 3Rating: 3 97 ClinVar 2020-09-05
AAAS Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/AAAS
Global Variome, with Curator vacancy
Database manager
Rating: 3Rating: 3Rating: 3Rating: 3 14 LOVD 3.X 2020-09-15
AAAS BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/AAAS
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
AAAS LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/AAAS
Graham Taylor
University of Melbourne
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2013-06-13
AACS ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=AACS[gene]

Rating: 2Rating: 2Rating: 2Rating: 2 28 ClinVar 2020-01-06
AACS Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/AACS
LOVD-team, but with Curator vacancy
LUMC
Rating: 2Rating: 2Rating: 2Rating: 2 2 LOVD 3.X 2020-07-03
AACS BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/AACS
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
AACS BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/AACS
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2018-10-14
AACS LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/AACS
Graham Taylor
University of Melbourne
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2013-06-13
AACS BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/AACS
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
AACS BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/AACS
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2017-10-26
AACSP1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/AACSP1
LOVD-team, but with Curator vacancy
LUMC
Rating: 1Rating: 1Rating: 1Rating: 1 - LOVD 3.X Unknown
AACSP1 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/AACSP1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2018-10-12
AACSP1 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/AACSP1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2017-10-26
AACSP1 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/AACSP1
Graham Taylor
University of Melbourne
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2013-06-15
AADAC ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=AADAC[gene]

Rating: 2Rating: 2Rating: 2Rating: 2 19 ClinVar 2020-07-06
AADAC Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/AADAC
LOVD-team, but with Curator vacancy
LUMC
Rating: 2Rating: 2Rating: 2Rating: 2 1 LOVD 3.X 2020-06-15
AADAC BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/AADAC
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
AADAC BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/AADAC
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2018-10-07
AADAC BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/AADAC
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2017-10-26
AADAC LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/AADAC
Graham Taylor
University of Melbourne
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2013-06-17
AADAC BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/AADAC
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
AADACL2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=AADACL2[gene]

Rating: 2Rating: 2Rating: 2Rating: 2 15 ClinVar 2020-07-06
AADACL2 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/AADACL2
LOVD-team, but with Curator vacan