ClinVar Miner

List of variants in gene MSH2 reported as likely pathogenic by Department of Pathology and Laboratory Medicine, Sinai Health System

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000251.3(MSH2):c.1045C>A (p.Pro349Thr) rs267607939
NM_000251.3(MSH2):c.1067T>G (p.Ile356Arg) rs753075410
NM_000251.3(MSH2):c.1807G>A (p.Asp603Asn) rs63750657
NM_000251.3(MSH2):c.2005+3_2005+14del rs587779125
NM_000251.3(MSH2):c.2005G>T (p.Gly669Cys) rs63751668
NM_000251.3(MSH2):c.211G>C (p.Gly71Arg) rs587782659
NM_000251.3(MSH2):c.2182_2199del (p.Glu728_Ala733del) rs1553369194
NM_000251.3(MSH2):c.490G>T (p.Gly164Trp) rs63750582
NM_000251.3(MSH2):c.518T>C (p.Leu173Pro) rs63750070
NM_000251.3(MSH2):c.568CTC[1] (p.Leu191del) rs587779165

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