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 ACVRL1. Remove filter

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

Curators     

Rating     

Unique variants     

Software     

Last updated     
ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=ACVRL1[gene]

Rating: 3Rating: 3Rating: 3Rating: 3 992 ClinVar 2024-04-06
Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/ACVRL1
Global Variome, with Curator vacancy
Database manager
Rating: 3Rating: 3Rating: 3Rating: 3 101 LOVD 3.X 2024-04-19
HHT Mutation Database
http://arup.utah.edu/database/ACVRL1/ACVRL1_welcome.php
Whitney Wooderchak, PhD
University of Utah
Rating: 0Rating: 0Rating: 0Rating: 0 - Other Unknown
BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/ACVRL1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2017-10-26
BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/ACVRL1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2018-11-13
Hereditary Hemorrhagic Telangiectasia (HHT) Mutation Database
http://www.hhtmutation.org/
Paul Westwood, The Molecular Genetics Service, Edinburgh, UK
Western General Hospital, UK.
Rating: 0Rating: 0Rating: 0Rating: 0 - Other Unknown
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