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 GJB1. Remove filter

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

Curators     

Rating     

Unique variants     

Software     

Last updated     
Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/GJB1
Johan den Dunnen
private
Rating: 4Rating: 4Rating: 4Rating: 4 395 LOVD 3.X 2020-09-15
ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=GJB1[gene]

Rating: 3Rating: 3Rating: 3Rating: 3 667 ClinVar 2020-09-05
NDDVD - Neurodegenerative Diseases Variation Database
http://bioinf.suda.edu.cn/NDDvarbase/LOVDv.3.0/genes/GJB1
Y Yang
SUDA
Rating: 2Rating: 2Rating: 2Rating: 2 34 LOVD 3.X 2017-05-24
SpainMDB
https://lovd3.isciii.es/genes/GJB1
Sara Monzón & Javier Alonso
Instituto de Salud Carlos III
Rating: 2Rating: 2Rating: 2Rating: 2 - LOVD 3.X Unknown

http://db.cshg.org.cy/genes/GJB1
Panayiotis Laouris
The Cyprus Institute of Neurology and Genetics
Rating: 2Rating: 2Rating: 2Rating: 2 - LOVD 3.X 2017-09-20
BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/GJB1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
Inherited Peripheral Neuropathies Mutation Database
http://www.molgen.ua.ac.be/CMTMutations/
Eva Nelis Molecular Genetics Department Flanders Interuniversity Institute for Biotechnology (VIB) University of Antwerp (UA), Belgium
Rating: 0Rating: 0Rating: 0Rating: 0 - Other Unknown
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/GJB1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2018-10-11
BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/GJB1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2017-10-26
BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/GJB1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/GJB1
Graham Taylor
University of Melbourne
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2013-08-01
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