ClinVar Miner

List of variants in gene MSH2 reported as uncertain significance by GeneKor MSA

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Gene type:
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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_000251.3(MSH2):c.435T>G (p.Ile145Met) rs63750124 0.00031
NM_000251.3(MSH2):c.1787A>G (p.Asn596Ser) rs41295288 0.00022
NM_000251.3(MSH2):c.1748A>G (p.Asn583Ser) rs201118107 0.00014
NM_000251.3(MSH2):c.557A>G (p.Asn186Ser) rs151129360 0.00011
NM_000251.3(MSH2):c.499G>C (p.Asp167His) rs63750255 0.00006
NM_000251.3(MSH2):c.183G>T (p.Gln61His) rs751082926 0.00004
NM_000251.3(MSH2):c.1681G>A (p.Glu561Lys) rs63750328 0.00002
NM_000251.3(MSH2):c.1148G>A (p.Arg383Gln) rs376934727 0.00001
NM_000251.3(MSH2):c.1462T>G (p.Leu488Val) rs587781314 0.00001
NM_000251.3(MSH2):c.1597C>G (p.Leu533Val) rs786202987 0.00001
NM_000251.3(MSH2):c.1831G>A (p.Val611Met) rs369385048 0.00001
NM_000251.3(MSH2):c.716A>G (p.Gln239Arg) rs199676483 0.00001
NM_000251.3(MSH2):c.1144C>A (p.Arg382Ser) rs752373431
NM_000251.3(MSH2):c.1405C>G (p.Leu469Val) rs780702096
NM_000251.3(MSH2):c.182A>C (p.Gln61Pro) rs587779113
NM_000251.3(MSH2):c.247A>G (p.Met83Val) rs766196837
NM_000251.3(MSH2):c.965G>T (p.Gly322Val) rs4987188

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