ClinVar Miner

List of variants in gene MSH2 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_000251.3(MSH2):c.1275A>G (p.Glu425=) rs63751650 0.00016
NM_000251.3(MSH2):c.1461C>G (p.Asp487Glu) rs35107951 0.00011
NM_000251.3(MSH2):c.557A>G (p.Asn186Ser) rs151129360 0.00011
NM_000251.3(MSH2):c.1774A>G (p.Met592Val) rs371614039 0.00005
NM_000251.3(MSH2):c.835C>G (p.Leu279Val) rs375351205 0.00003
NM_000251.3(MSH2):c.2178G>C (p.Met726Ile) rs587782396 0.00002
NM_000251.3(MSH2):c.2362A>C (p.Thr788Pro) rs774440277 0.00002
NM_000251.3(MSH2):c.146A>T (p.Asp49Val) rs63750335 0.00001
NM_000251.3(MSH2):c.2064G>A (p.Met688Ile) rs63750790 0.00001
NM_000251.3(MSH2):c.5C>T (p.Ala2Val) rs587778521 0.00001
NM_000251.3(MSH2):c.905T>C (p.Leu302Ser) rs63749914 0.00001
NM_000251.3(MSH2):c.1206A>T (p.Gln402His) rs1553356673
NM_000251.3(MSH2):c.14C>G (p.Pro5Arg) rs56170584
NM_000251.3(MSH2):c.1714_1715delinsAT (p.Glu572Ile) rs1558514635
NM_000251.3(MSH2):c.1832T>G (p.Val611Gly) rs1553368590
NM_000251.3(MSH2):c.1864C>G (p.Pro622Ala) rs63750280
NM_000251.3(MSH2):c.1880A>T (p.Lys627Ile) rs1667240539
NM_000251.3(MSH2):c.2023A>C (p.Lys675Gln)
NM_000251.3(MSH2):c.2260A>G (p.Thr754Ala) rs757268664
NM_000251.3(MSH2):c.250A>C (p.Asn84His) rs1573436418
NM_000251.3(MSH2):c.458C>G (p.Ser153Cys) rs766349734
NM_000251.3(MSH2):c.580A>G (p.Ile194Val) rs1672676776
NM_000251.3(MSH2):c.646-20A>G rs2104096959
NM_000251.3(MSH2):c.764G>C (p.Ser255Thr) rs763184168

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