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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Information Currently active filter: LSDBs for gene GJB2. Remove filter

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

Curators     

Rating     

Unique variants     

Software     

Last updated     
ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=GJB2[gene]

Rating: 3Rating: 3Rating: 3Rating: 3 617 ClinVar 2024-04-06
Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/GJB2
Global Variome, with Curator vacancy
Database manager
Rating: 3Rating: 3Rating: 3Rating: 3 126 LOVD 3.X 2024-04-19
Hereditary Hearing Loss Database
http://bipmed.iqm.unicamp.br/deafness/genes/GJB2
admin
CBMEG
Rating: 2Rating: 2Rating: 2Rating: 2 25 LOVD 3.X 2018-04-03
MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
https://mseqdr.org/MITO/genes/GJB2
Lishuang Shen & Atteeq Rehman
Children's Hospital Los Angeles
National Institutes of Health
Rating: 2Rating: 2Rating: 2Rating: 2 - LOVD 3.X 2013-12-10
SpainMDB
https://lovd3.isciii.es/genes/GJB2
Sara Monzón & Javier Alonso
Instituto de Salud Carlos III
Rating: 2Rating: 2Rating: 2Rating: 2 - LOVD 3.X Unknown

http://db.cshg.org.cy/genes/GJB2
Anastasia Raoukka & Carsten W Lederer & Savvas Nikolaou
The Cyprus Institute of Neurology & Genetics
The Cyprus Society of Human Genetics; The Cyprus Institute of Neurology and Genetics
The Cyprus Institute of Neurology and Genetics
Rating: 2Rating: 2Rating: 2Rating: 2 - LOVD 3.X 2016-06-28
Labor Staber Humangenetik
http://www.genetik-regensburg.de/LOVDv.3.0/genes/GJB2
Sabine Heber
MVZ Dr. Staber & Kollegen GmbH
Rating: 2Rating: 2Rating: 2Rating: 2 - LOVD 3.X Unknown
Malaysian Node of the Human Variome Project Database
https://myhvpdb.kk.usm.my/genes/GJB2
MyHVP
Universiti Sains Malaysia
Rating: 1Rating: 1Rating: 1Rating: 1 10 LOVD 3.X 2021-08-30
The Connexin-deafness homepage
http://davinci.crg.es/deafness/
Ester Ballana, Marina Ventayol, Paolo Gasparini, Xavier Estivill, (CRG) Barcelona Spain
-
Rating: 0Rating: 0Rating: 0Rating: 0 - Other Unknown
BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/GJB2
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2018-10-11
CCHMC Molecular Genetics Laboratory Mutation Database
https://research.cchmc.org/LOVD2/home.php?select_db=GJB2
Ammar Husami
Cincinnati Children's Hospital Medical Center
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 2.X 2017-10-24
BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/GJB2
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2017-10-26
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