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 CEP290. Remove filter

7 entries on 1 page. Showing entries 1 - 7.
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Database name     

Curators     

Rating     

Unique variants     

Software     

Last updated     
Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/CEP290
Jonna Tallila
The Wellcome Trust Sanger Institute
Rating: 4Rating: 4Rating: 4Rating: 4 628 LOVD 3.X 2024-04-19
ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=CEP290[gene]

Rating: 3Rating: 3Rating: 3Rating: 3 3668 ClinVar 2024-04-06
MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
https://mseqdr.org/MITO/genes/CEP290
Lishuang Shen
Children's Hospital Los Angeles
Rating: 1Rating: 1Rating: 1Rating: 1 - LOVD 3.X 2013-12-10
BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/CEP290
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2017-10-26
EURO-WABB PROJECT OPEN VARIATION DATABASE
https://lovd.euro-wabb.org/home.php?select_db=CEP290
Dewi Astuti & Dewi Astuti & Professor Timothy Barrett
University of Birmingham
The University of Birmingham
Birmingham Childrens Hospital and The University of Birmingham
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 2.X 2012-07-17
BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/CEP290
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2018-10-02
CEP290base
http://medgen.ugent.be/cep290base/
Frauke Coppieters, Elfride De Baere
Rating: 0Rating: 0Rating: 0Rating: 0 - Other Unknown
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