ClinVar Miner

List of variants reported as pathogenic for Mismatch repair cancer syndrome 2

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000251.2(MSH2):c.-125_1076+?del
NM_000251.3(MSH2):c.1165C>T (p.Arg389Ter) rs587779075
NM_000251.3(MSH2):c.1662-1G>A rs267607970
NM_000251.3(MSH2):c.2006-5T>A rs267607990
NM_000251.3(MSH2):c.454del (p.Met152fs) rs63751449
NM_000251.3(MSH2):c.641_642insCAAATTGAGTCTAGTGATAA (p.Arg214fs) rs2104042264
NM_000251.3(MSH2):c.643C>T (p.Gln215Ter) rs63751274

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