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

10 entries on 1 page. Showing entries 1 - 10.
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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 2350 ClinVar 2024-03-06
Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/KCNQ1
Global Variome, with Curator vacancy
Database manager
Rating: 3Rating: 3Rating: 3Rating: 3 844 LOVD 3.X 2024-02-26
Labor Staber Humangenetik
https://lshg-lovd.labor-staber.de/LOVD/LOVDv.3.0/genes/KCNQ1
Florian Bayersdorfer
Dr. Staber & Kollegen GmbH MVZ für Humangenetik Regensburg
Rating: 2Rating: 2Rating: 2Rating: 2 1 LOVD 3.X 2023-06-27
Malaysian Node of the Human Variome Project Database
https://myhvpdb.kk.usm.my/genes/KCNQ1
MyHVP
Universiti Sains Malaysia
Rating: 1Rating: 1Rating: 1Rating: 1 4 LOVD 3.X 2021-09-01
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 - 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
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
**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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