ClinVar Miner

List of variants in gene MSH2 reported as pathogenic by Clinical Genetics and Genomics, Karolinska University Hospital

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_000251.3(MSH2):c.1066_1070del (p.Ile356fs) rs1673082068
NM_000251.3(MSH2):c.1201_1202dup (p.Leu401fs) rs869312768
NM_000251.3(MSH2):c.1216C>T (p.Arg406Ter) rs63751108
NM_000251.3(MSH2):c.1226_1227del (p.Gln409fs) rs63750086
NM_000251.3(MSH2):c.1363_1364del (p.Glu455fs) rs1675074248
NM_000251.3(MSH2):c.1447G>T (p.Glu483Ter) rs63749947
NM_000251.3(MSH2):c.1447_1448del (p.Glu483fs) rs63750161
NM_000251.3(MSH2):c.1587del (p.Glu530fs) rs63750845
NM_000251.3(MSH2):c.1777C>T (p.Gln593Ter) rs63750200
NM_000251.3(MSH2):c.1786_1788del (p.Asn596del) rs63749831
NM_000251.3(MSH2):c.187del (p.Gly62_Val63insTer) rs63750160
NM_000251.3(MSH2):c.1982_1985del (p.Lys661fs) rs587779120
NM_000251.3(MSH2):c.2038C>T (p.Arg680Ter) rs63749932
NM_000251.3(MSH2):c.2680_2681dup (p.Met894fs) rs1667578908
NM_000251.3(MSH2):c.2680dup (p.Met894fs) rs876658211
NM_000251.3(MSH2):c.289C>T (p.Gln97Ter) rs63750970
NM_000251.3(MSH2):c.347_350del (p.Asp116fs) rs63750501
NM_000251.3(MSH2):c.680_683del (p.Arg227fs) rs587782537

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