ClinVar Miner

List of variants in gene MSH2 reported as pathogenic by Mayo Clinic Genetic Testing Laboratories,Mayo Clinic

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Total variants: 35
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HGVS dbSNP
NM_000251.2(MSH2):c.1035G>A (p.Trp345Ter) rs63750396
NM_000251.2(MSH2):c.1147C>T (p.Arg383Ter) rs63749849
NM_000251.2(MSH2):c.1165C>T (p.Arg389Ter) rs587779075
NM_000251.2(MSH2):c.1216C>T (p.Arg406Ter) rs63751108
NM_000251.2(MSH2):c.1226_1227del (p.Gln409fs) rs63750086
NM_000251.2(MSH2):c.1251_1268delinsAGTT (p.Ile418fs) rs863225388
NM_000251.2(MSH2):c.1255C>T (p.Gln419Ter) rs63750006
NM_000251.2(MSH2):c.1277-?_1386+?dup
NM_000251.2(MSH2):c.1277-?_2634+?del
NM_000251.2(MSH2):c.1351C>T (p.Gln451Ter) rs786201066
NM_000251.2(MSH2):c.1394dup (p.Asn465fs) rs863225390
NM_000251.2(MSH2):c.142G>T (p.Glu48Ter) rs63750615
NM_000251.2(MSH2):c.1511-2A>G rs267607962
NM_000251.2(MSH2):c.1738G>T (p.Glu580Ter) rs63751411
NM_000251.2(MSH2):c.1786_1788del (p.Asn596del) rs63749831
NM_000251.2(MSH2):c.181C>T (p.Gln61Ter) rs63750951
NM_000251.2(MSH2):c.1835C>G (p.Ser612Ter) rs63750493
NM_000251.2(MSH2):c.187del (p.Gly62_Val63insTer) rs63750160
NM_000251.2(MSH2):c.1906G>C (p.Ala636Pro) rs63750875
NM_000251.2(MSH2):c.1915C>T (p.His639Tyr) rs28929484
NM_000251.2(MSH2):c.2038C>T (p.Arg680Ter) rs63749932
NM_000251.2(MSH2):c.212-1G>A rs267607914
NM_000251.2(MSH2):c.2131C>T (p.Arg711Ter) rs63750636
NM_000251.2(MSH2):c.2236dup (p.Ile746fs) rs863225392
NM_000251.2(MSH2):c.226C>T (p.Gln76Ter) rs63750042
NM_000251.2(MSH2):c.2297del (p.Ile766fs) rs863225394
NM_000251.2(MSH2):c.2388del (p.Val797fs) rs63749983
NM_000251.2(MSH2):c.2633_2634delAG rs63751618
NM_000251.2(MSH2):c.2653C>T (p.Gln885Ter) rs63750808
NM_000251.2(MSH2):c.34dup (p.Glu12fs) rs63750614
NM_000251.2(MSH2):c.387_388delTC rs63750924
NM_000251.2(MSH2):c.687del (p.Ala230fs) rs63749897
NM_000251.2(MSH2):c.839del (p.Leu280fs) rs63750091
NM_000251.2(MSH2):c.942+3A>T rs193922376
NM_000251.2(MSH2):c.970C>T (p.Gln324Ter) rs63750502

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