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 ACTN2. Remove filter

9 entries on 1 page. Showing entries 1 - 9.
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Database name     

Curators     

Rating     

Unique variants     

Software     

Last updated     
Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/ACTN2
Marco Savarese
University of Helsinki
Rating: 4Rating: 4Rating: 4Rating: 4 223 LOVD 3.X 2020-07-07
ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=ACTN2[gene]

Rating: 3Rating: 3Rating: 3Rating: 3 674 ClinVar 2020-07-06
MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
https://mseqdr.org/MITO/genes/ACTN2
Lishuang Shen
Children's Hospital Los Angeles
Rating: 1Rating: 1Rating: 1Rating: 1 1 LOVD 3.X 2014-04-18
BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/ACTN2
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/ACTN2
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/ACTN2
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2017-10-26
DIAN DIAGNOSTICS & Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)
http://www.genomed.org/lovd2/home.php?select_db=ACTN2
Ming Qi, PhD, FACMG & Peikuan Cong & Yuanli Lei
Zhejiang University
Zhejiang University School of Medicine
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 2.X 2013-05-26
LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/ACTN2
Graham Taylor
University of Melbourne
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2013-06-18
BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/ACTN2
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2018-10-01
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