ClinVar Miner

List of variants in gene MSH2 reported by OMIM

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 22
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000251.3(MSH2):c.965G>A (p.Gly322Asp) rs4987188 0.01714
NM_000251.3(MSH2):c.942+3A>T rs193922376 0.00072
NM_000251.3(MSH2):c.1906G>C (p.Ala636Pro) rs63750875 0.00003
MSH2, 24-BP INS
MSH2, 32-KB DEL, EX1-6
MSH2, DEL 50 CODONS
NC_000002.12:g.47430139_47449418del
NM_000251.2(MSH2):c.-125_1076+?del
NM_000251.3(MSH2):c.1216C>T (p.Arg406Ter) rs63751108
NM_000251.3(MSH2):c.1277-1180_1386+2226delinsCATTCTCTTTGAAAA
NM_000251.3(MSH2):c.1457_1460del (p.Asn486fs) rs1114167806
NM_000251.3(MSH2):c.1571G>C (p.Arg524Pro) rs63751207
NM_000251.3(MSH2):c.1662-1G>A rs267607970
NM_000251.3(MSH2):c.1786_1788del (p.Asn596del) rs63749831
NM_000251.3(MSH2):c.1801C>T (p.Gln601Ter) rs63750047
NM_000251.3(MSH2):c.1865C>T (p.Pro622Leu) rs28929483
NM_000251.3(MSH2):c.1915C>T (p.His639Tyr) rs28929484
NM_000251.3(MSH2):c.2006-5T>A rs267607990
NM_000251.3(MSH2):c.2113del (p.Val705fs) rs63749811
NM_000251.3(MSH2):c.269_290dup (p.Tyr98fs) rs1553350126
NM_000251.3(MSH2):c.388_389del (p.Gln130fs) rs63750704
NM_000251.3(MSH2):c.454del (p.Met152fs) rs63751449

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.