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 PMM2. Remove filter

8 entries on 1 page. Showing entries 1 - 8.
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Database name     

Curators     

Rating     

Unique variants     

Software     

Last updated     
Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/PMM2
Gert Matthijs
University of Leuven
Rating: 4Rating: 4Rating: 4Rating: 4 79 LOVD 3.X 2020-03-23
ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=PMM2[gene]

Rating: 3Rating: 3Rating: 3Rating: 3 293 ClinVar 2020-02-03
BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/PMM2
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/PMM2
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/PMM2
Graham Taylor
University of Melbourne
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2013-06-11
BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/PMM2
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/PMM2
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2018-10-14
Congenital Disorders of Glycosylation pages
http://www.euroglycanet.org/
Gert Matthijs
Center for Human Genetics Leuven, Belgium
Rating: 0Rating: 0Rating: 0Rating: 0 - Unknown Unknown
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