Locus Specific Mutation Databases

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Course: NGS in diagnostics, Sao Paulo, 26-29 november 2018
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3118 entries on 32 pages. Showing entries 1 - 100.
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AscendingSymbol     

Database name     

Curators     

Unique variants     

Linked diseases     

Software     

Last updated     
D2HGDH ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=D2HGDH[gene]

- - Other 2014-03-07
D2HGDH Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/D2HGDH
Gajja Salomons
Clinical Chemistry, Metabolic Unit
- - LOVD 3.X Unknown
D2HGDH Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/D2HGDH
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-10
D2HGDH LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/D2HGDH
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-18
D2HGDH LOVD - Leiden Open Variation Database
http://grenada.lumc.nl/LOVD2/vumc/home.php?select_db=D2HGDH
Gajja Salomons
Clinical Chemistry, Metabolic Unit, VUmc, Amsterdam
- - LOVD 2.X 2016-09-16
D2HGDH BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/D2HGDH
Admin
BRAINN
- - LOVD 3.X 2017-10-26
DAAM1 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/DAAM1
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-12
DAAM1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=DAAM1[gene]

- - Other 2014-03-07
DAAM1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/DAAM1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
DAAM1 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/DAAM1
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-11
DAAM1 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/DAAM1
Admin
BRAINN
- - LOVD 3.X 2017-10-26
DAAM2 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/DAAM2
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-14
DAAM2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=DAAM2[gene]

- - Other 2014-06-02
DAAM2 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/DAAM2
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2015-12-11
DAAM2 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/DAAM2
Admin
BRAINN
- - LOVD 3.X 2017-10-26
DAB1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=DAB1[gene]

- - Other 2014-06-02
DAB1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/DAB1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2018-06-26
DAB1 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/DAB1
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-18
DAB1 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/DAB1
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-14
DAB2 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/DAB2
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-14
DAB2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=DAB2[gene]

- - Other 2014-03-07
DAB2 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/DAB2
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
DAB2 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/DAB2
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-12
DAB2 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/DAB2
Admin
BRAINN
- - LOVD 3.X 2017-10-26
DAB2IP ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=DAB2IP[gene]

- - Other 2014-09-01
DAB2IP Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/DAB2IP
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
DAB2IP Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/DAB2IP
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-11
DAB2IP BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/DAB2IP
Admin
BRAINN
- - LOVD 3.X 2017-10-26
DAB2IP LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/DAB2IP
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-08-03
DACH1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=DACH1[gene]

- - Other 2014-04-03
DACH1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/DACH1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
DACH1 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/DACH1
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-10
DACH1 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/DACH1
Admin
BRAINN
- - LOVD 3.X 2017-10-26
DACH2 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/DACH2
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-14
DACH2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=DACH2[gene]

- - Other 2014-09-01
DACH2 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/DACH2
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2018-08-17
DACH2 X-chromosome gene database
http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=DACH2
LOVD-team, but with Curator vacancy
LUMC, Leiden, Nederland
- - LOVD 2.X 2010-10-24
DACH2 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/DACH2
Admin
BRAINN
- - LOVD 3.X 2017-10-26
DACH2 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/DACH2
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-14
DACT1 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/DACT1
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-12
DACT1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=DACT1[gene]

- - Other 2014-03-07
DACT1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/DACT1
Yunping Lei
Dell Pediatric Research Institute
- - LOVD 3.X 2017-07-07
DACT1 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/DACT1
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-10
DACT1 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/DACT1
Admin
BRAINN
- - LOVD 3.X 2017-10-26
DACT2 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/DACT2
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-14
DACT2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=DACT2[gene]

- - Other 2014-09-01
DACT2 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/DACT2
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
DACT2 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/DACT2
Admin
BRAINN
- - LOVD 3.X 2017-10-26
DACT3 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=DACT3[gene]

- - Other 2014-03-07
DACT3 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/DACT3
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
DACT3 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/DACT3
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-11
DACT3 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/DACT3
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-11
DACT3 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/DACT3
Admin
BRAINN
- - LOVD 3.X 2017-10-26
DACT3-AS1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/DACT3-AS1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
DACT3-AS1 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/DACT3-AS1
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-10
DACT3-AS1 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/DACT3-AS1
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-11
DACT3-AS1 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/DACT3-AS1
Admin
BRAINN
- - LOVD 3.X 2017-10-26
DAD1 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/DAD1
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-12
DAD1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=DAD1[gene]

- - Other 2014-03-07
DAD1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/DAD1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
DAD1 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/DAD1
Admin
BRAINN
- - LOVD 3.X 2017-10-26
DAD1P1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=DAD1P1[gene]

- - Other 2014-09-01
DAG1 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/DAG1
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-17
DAG1 Leiden Muscular Dystrophy pages
http://www.dmd.nl/nmdb2/home.php?select_db=DAG1
Johan den Dunnen
private
- - LOVD 2.X 2017-03-31
DAG1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=DAG1[gene]

- - Other 2014-06-02
DAG1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/DAG1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2013-03-29
DAG1 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/DAG1
Admin
BRAINN
- - LOVD 3.X 2017-10-26
DAGLA ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=DAGLA[gene]

- - Other 2014-03-07
DAGLA Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/DAGLA
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
DAGLA LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/DAGLA
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-13
DAGLA BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/DAGLA
Admin
BRAINN
- - LOVD 3.X 2017-10-26
DAGLB LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/DAGLB
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-14
DAGLB ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=DAGLB[gene]

- - Other 2014-03-07
DAGLB Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/DAGLB
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
DAGLB Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/DAGLB
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-10
DAGLB BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/DAGLB
Admin
BRAINN
- - LOVD 3.X 2017-10-26
DAK ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=DAK[gene]

- - Other 2014-03-07
DAK Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/DAK
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
DAK LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/DAK
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-13
DALRD3 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/DALRD3
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-17
DALRD3 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=DALRD3[gene]

- - Other 2014-06-02
DALRD3 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/DALRD3
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
DALRD3 PharmGKB - Pharmacogenomics Knowledge Implementation
https://www.pharmgkb.org/search/browseAlpha.action?browseKey=variantAnnotatedGenes
PharmGKB Team
Shriram Center for Bioengineering and Chemical Engineering
- - Other Unknown
DALRD3 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/DALRD3
Admin
BRAINN
- - LOVD 3.X 2017-10-26
DANCR ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=DANCR[gene]

- - Other 2014-03-07
DANCR Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/DANCR
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
DAND5 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=DAND5[gene]

- - Other 2014-03-07
DAND5 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/DAND5
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
DAND5 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/DAND5
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-11
DAND5 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/DAND5
Admin
BRAINN
- - LOVD 3.X 2017-10-26
DAO ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=DAO[gene]

- - Other 2014-03-07
DAO Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/DAO
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
DAO NDDVD - Neurodegenerative Diseases Variation Database
http://bioinf.suda.edu.cn/NDDvarbase/LOVDv.3.0/genes/DAO
XY Liu
SUDA
- - LOVD 3.X 2017-04-15
DAO BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/DAO
Admin
BRAINN
- - LOVD 3.X 2017-10-26
DAO LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/DAO
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-08-02
DAOA LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/DAOA
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-12
DAOA ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=DAOA[gene]

- - Other 2014-03-07
DAOA Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/DAOA
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
DAOA PharmGKB - Pharmacogenomics Knowledge Implementation
https://www.pharmgkb.org/search/browseAlpha.action?browseKey=variantAnnotatedGenes
PharmGKB Team
Shriram Center for Bioengineering and Chemical Engineering
- - Other Unknown
DAOA BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/DAOA
Admin
BRAINN
- - LOVD 3.X 2017-10-26
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