ClinVar Miner

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

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Gene type:
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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_000251.2(MSH2):c.793-?_1276+?dup
NM_000251.3(MSH2):c.1090del (p.Glu364fs) rs863225385
NM_000251.3(MSH2):c.1177A>T (p.Lys393Ter) rs863225386
NM_000251.3(MSH2):c.1237C>T (p.Gln413Ter) rs863225387
NM_000251.3(MSH2):c.1276+2T>C rs267607953
NM_000251.3(MSH2):c.1302del (p.Val435fs) rs863225389
NM_000251.3(MSH2):c.1481C>G (p.Ser494Ter) rs370970617
NM_000251.3(MSH2):c.1538_1539del (p.Leu513fs) rs863225391
NM_000251.3(MSH2):c.1759+1G>A rs587779108
NM_000251.3(MSH2):c.1911del (p.Arg638fs) rs63750893
NM_000251.3(MSH2):c.1982_1985del (p.Lys661fs) rs587779120
NM_000251.3(MSH2):c.2004T>A (p.Thr668=) rs1553368731
NM_000251.3(MSH2):c.2005+2dup rs541623924
NM_000251.3(MSH2):c.20del (p.Glu7fs) rs267607915
NM_000251.3(MSH2):c.2295_2296insTA (p.Ile766Ter) rs863225393
NM_000251.3(MSH2):c.2300C>G (p.Ser767Ter) rs863225395
NM_000251.3(MSH2):c.2494G>T (p.Glu832Ter) rs863225396
NM_000251.3(MSH2):c.2502_2508del (p.Asn835fs) rs63751447
NM_000251.3(MSH2):c.528_529del (p.Cys176_Glu177delinsTer) rs587779164
NM_000251.3(MSH2):c.793-1G>A rs863225397
NM_000251.3(MSH2):c.871del (p.Glu290_Leu291insTer) rs1064794809

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