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 KCNQ1. 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=KCNQ1[gene]

Rating: 3Rating: 3Rating: 3Rating: 3 1230 ClinVar 2020-08-03
Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/KCNQ1
Global Variome, with Curator vacancy
Database manager
Rating: 3Rating: 3Rating: 3Rating: 3 800 LOVD 3.X 2020-08-06
MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
https://mseqdr.org/MITO/genes/KCNQ1
Lishuang Shen
Children's Hospital Los Angeles
Rating: 1Rating: 1Rating: 1Rating: 1 3 LOVD 3.X 2013-12-10
Gene Connection for the Heart
http://www.fsm.it/cardmoc
S.G. Priori, P.J. Schwartz, Pavia, Italy
all data in LOVD3/shared
Rating: 0Rating: 0Rating: 0Rating: 0 - None (static pages) Unknown
BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/KCNQ1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2018-10-15
BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/KCNQ1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
PharmGKB - Pharmacogenomics Knowledge Implementation
https://www.pharmgkb.org/search/browseAlpha.action?browseKey=variantAnnotatedGenes
PharmGKB Team
Shriram Center for Bioengineering and Chemical Engineering
Rating: 0Rating: 0Rating: 0Rating: 0 - Other Unknown
BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/KCNQ1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2017-10-26
LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/KCNQ1
Graham Taylor
University of Melbourne
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2013-06-13
BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/KCNQ1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
DIAN DIAGNOSTICS & Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)
http://www.genomed.org/lovd2/home.php?select_db=KCNQ1
Ming Qi, PhD, FACMG & Peikuan Cong & Tao Zhang
Zhejiang University
genomed
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 2.X 2014-05-29
**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
https://research.cchmc.org/LOVD2/home.php?select_db=KCNQ1
Ammar Husami
Cincinnati Children's Hospital Medical Center
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 2.X 2010-04-22
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