ClinVar Miner

List of variants in gene MSH2 reported as uncertain significance by International Society for Gastrointestinal Hereditary Tumours (InSiGHT)

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Gene type:
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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_000251.3(MSH2):c.2785C>T (p.Arg929Ter) rs551060742 0.00011
NM_000251.3(MSH2):c.1963G>A (p.Val655Ile) rs549467183 0.00003
NM_000251.3(MSH2):c.991A>G (p.Asn331Asp) rs267607938 0.00003
NM_000251.3(MSH2):c.2437A>G (p.Met813Val) rs63749841 0.00001
NM_000251.3(MSH2):c.1277-14C>G rs267607951
NM_000251.3(MSH2):c.1510G>C (p.Gly504Arg) rs63751600
NM_000251.3(MSH2):c.1662-18T>C rs376235435
NM_000251.3(MSH2):c.1807G>A (p.Asp603Asn) rs63750657
NM_000251.3(MSH2):c.1A>C (p.Met1Leu) rs267607911
NM_000251.3(MSH2):c.1A>G (p.Met1Val) rs267607911
NM_000251.3(MSH2):c.1A>T (p.Met1Leu) rs267607911
NM_000251.3(MSH2):c.2005G>C (p.Gly669Arg) rs63751668
NM_000251.3(MSH2):c.2634G>C (p.Glu878Asp) rs63751624
NM_000251.3(MSH2):c.2740G>T (p.Glu914Ter) rs267608024
NM_000251.3(MSH2):c.2797dup (p.Thr933fs) rs587779156
NM_000251.3(MSH2):c.792G>C (p.Gln264His) rs587779183

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