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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Course: NGS in diagnostics, Sao Paulo, 26-29 november 2018
Information Currently active filter: LSDBs for gene DNM2. Remove filter

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

Database name     

Curators     

Unique variants     

Linked diseases     

Software     

Last updated     
Inherited Peripheral Neuropathies Mutation Database
http://www.molgen.ua.ac.be/CMTMutations/
Eva Nelis Molecular Genetics Department Flanders Interuniversity Institute for Biotechnology (VIB) University of Antwerp (UA), Belgium
- - Other Unknown
Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/DNM2
Fleur Garton & Johan den Dunnen
Murdoch Childrens Research Institute
private
- - LOVD 3.X 2015-12-12
LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/DNM2
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-11
ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=DNM2[gene]

- - Other 2014-08-07
The UMD DNM2-isoform1 mutations database
http://www.umd.be/DNM2/
Christophe Beroud
Laboratoire de génétique Moléculaire et Chromosomique, Montpellier, France
- - UMD Unknown
BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/DNM2
Admin
BRAINN
- - LOVD 3.X 2017-10-26
BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/DNM2
Admin
BRAINN
- - LOVD 3.X 2018-10-05
BIPMed SNP Array - HG38
http://bipmed.iqm.unicamp.br/snparray_296/genes/DNM2
Admin
BRAINN
- - LOVD 3.X 2018-10-09