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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International Symposium on Variants in the Genome - Variant Detection 2020, Piran Slovenia
Information Currently active filter: LSDBs for gene GJB3. Remove filter

12 entries on 1 page. Showing entries 1 - 12.

Database name     

Curators     

Unique variants     

Linked diseases     

Software     

Last updated     
The Connexin-deafness homepage
http://davinci.crg.es/deafness/
Ester Ballana, Marina Ventayol, Paolo Gasparini, Xavier Estivill, (CRG) Barcelona Spain
-
- - Other Unknown
Deafness Gene Mutation Database
http://hearing.harvard.edu/genepages/gjb3dream.htm
Heidi Rehm
Harvard Medical School Center for Hereditary Deafness, Cambridge, MA, USA
- - None (static pages) 0000-00-00
Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/GJB3
Michel van Geel
Maastricht University Medical Centre
- - LOVD 3.X 2015-12-07
LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/GJB3
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-18
MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
https://mseqdr.org/MITO/genes/GJB3
Lishuang Shen
Children's Hospital Los Angeles
- - LOVD 3.X 2013-12-10
ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=GJB3[gene]

- - ClinVar 2019-12-02
Iran Variation Database
Not curated, does not accept submissions
http://genet.ir/variome/genes/GJB3
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-11
Hereditary Hearing Loss Database
http://bipmed.iqm.unicamp.br/deafness/genes/GJB3
admin
CBMEG
- - LOVD 3.X 2018-04-03
BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/GJB3
Admin
BRAINN
- - LOVD 3.X 2019-11-01
BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/GJB3
Admin
BRAINN
- - LOVD 3.X 2018-11-29
BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/GJB3
Admin
BRAINN
- - LOVD 3.X 2019-11-01
BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/GJB3
Admin
BRAINN
- - LOVD 3.X 2017-10-26