ClinVar Miner

List of variants reported as pathogenic for Lynch syndrome 1; Muir-Torré syndrome; Mismatch repair cancer syndrome 2 by Fulgent Genetics, Fulgent Genetics

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000251.3(MSH2):c.942+3A>T rs193922376 0.00072
NM_000251.3(MSH2):c.1072G>T (p.Glu358Ter)
NM_000251.3(MSH2):c.1277-1G>A rs267607948
NM_000251.3(MSH2):c.1662-1G>A rs267607970
NM_000251.3(MSH2):c.187del (p.Gly62_Val63insTer) rs63750160
NM_000251.3(MSH2):c.592G>T (p.Glu198Ter) rs587779166
NM_000251.3(MSH2):c.680_683del (p.Arg227fs) rs587782537
NM_000251.3(MSH2):c.929T>C (p.Leu310Pro) rs63750640

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