ClinVar Miner

List of variants in gene MSH2 reported by GenomeConnect, ClinGen

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000251.3(MSH2):c.2425G>A (p.Glu809Lys) rs202145681 0.00013
NM_000251.3(MSH2):c.382C>G (p.Leu128Val) rs145649774 0.00006
NM_000251.3(MSH2):c.1898T>C (p.Ile633Thr) rs864622093 0.00001
NM_000251.3(MSH2):c.2164G>A (p.Val722Ile) rs587781996 0.00001
NM_000251.3(MSH2):c.128A>T (p.Tyr43Phe) rs17217723
NM_000251.3(MSH2):c.1387-9T>A rs587779087
NM_000251.3(MSH2):c.181C>T (p.Gln61Ter) rs63750951
NM_000251.3(MSH2):c.2510C>G (p.Pro837Arg) rs1573578602
NM_000251.3(MSH2):c.2515C>G (p.His839Asp) rs876659466
NM_000251.3(MSH2):c.506_508delinsCAA (p.Ile169_Gln170delinsThrLys) rs2104027960
NM_000251.3(MSH2):c.743A>G (p.Lys248Arg) rs1064794704
Single allele

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