ClinVar Miner

List of variants in gene MSH2 reported as pathogenic for Colorectal cancer, hereditary, nonpolyposis, type 1

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Gene type:
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Total variants: 8
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HGVS dbSNP
MSH2, 19.28-KB DEL
MSH2, 24-BP INS
MSH2, 3.5-KB DEL AND 15-BP INS
MSH2, 32-KB DEL, EX1-6
MSH2, EX1-6 DEL
NM_000251.2(MSH2):c.1906G>C (p.Ala636Pro) rs63750875
NM_000251.2(MSH2):c.388_389del (p.Gln130fs) rs63750704
NM_000251.2(MSH2):c.942+3A>T rs193922376

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