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 GJC2. Remove filter

6 entries on 1 page. Showing entries 1 - 6.

Database name     
Curators     
Unique variants     
Linked diseases     
Software     
Last updated     
Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/GJC2		 Michel van Geel & Élodie Fastré & Pascal Brouillard
Maastricht University Medical Centre
de Duve Institute		 - - LOVD 3.X 2019-05-03
LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/GJC2		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-08-01
ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=GJC2[gene]
- - ClinVar 2020-01-06
MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
https://mseqdr.org/MITO/genes/GJC2		 Lishuang Shen
Children's Hospital Los Angeles		 - - LOVD 3.X 2014-04-18
Iran Variation Database
Not curated, does not accept submissions
http://genet.ir/variome/genes/GJC2		 Saeed Reza Ghaffari
Clinical Genetics Network		 - - LOVD 3.X 2015-12-14
BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/GJC2		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01