ClinVar Miner

List of variants in gene MSH2 reported as pathogenic by PreventionGenetics, part of Exact Sciences

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000251.3(MSH2):c.942+3A>T rs193922376 0.00072
NM_000251.3(MSH2):c.1009C>T (p.Gln337Ter) rs63750778
NM_000251.3(MSH2):c.1147C>T (p.Arg383Ter) rs63749849
NM_000251.3(MSH2):c.2089T>C (p.Cys697Arg) rs63750961
NM_000251.3(MSH2):c.2096C>G (p.Ser699Ter) rs587779136
NM_000251.3(MSH2):c.2245G>T (p.Glu749Ter) rs63751477
NM_000251.3(MSH2):c.388_389del (p.Gln130fs) rs63750704

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.