ClinVar Miner

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

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Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_000251.3(MSH2):c.942+3A>T rs193922376 0.00072
NC_000002.11:g.47630331_47643568dup
NC_000002.12:g.107580437_107580438del
NM_000251.3(MSH2):c.-1_211+1176del
NM_000251.3(MSH2):c.-1_211+156del
NM_000251.3(MSH2):c.-1_211+1del
NM_000251.3(MSH2):c.-1_211+866del
NM_000251.3(MSH2):c.1009C>T (p.Gln337Ter) rs63750778
NM_000251.3(MSH2):c.1030C>T (p.Gln344Ter) rs63750245
NM_000251.3(MSH2):c.1072G>T (p.Glu358Ter)
NM_000251.3(MSH2):c.1076+1G>A rs267607940
NM_000251.3(MSH2):c.1215C>A (p.Tyr405Ter) rs63751271
NM_000251.3(MSH2):c.1277-1G>A rs267607948
NM_000251.3(MSH2):c.1320dup (p.Thr441fs)
NM_000251.3(MSH2):c.136_164del (p.His46fs) rs63751482
NM_000251.3(MSH2):c.1386+1G>T rs267607957
NM_000251.3(MSH2):c.1387-2del rs2104082025
NM_000251.3(MSH2):c.1538_1539del (p.Leu513fs) rs863225391
NM_000251.3(MSH2):c.1552_1553del (p.Gln518fs) rs63749930
NM_000251.3(MSH2):c.1662-1G>A rs267607970
NM_000251.3(MSH2):c.1672dup (p.Ser558fs)
NM_000251.3(MSH2):c.1760-1_2006-296del
NM_000251.3(MSH2):c.1760_2005+455del
NM_000251.3(MSH2):c.1861C>T (p.Arg621Ter) rs63750508
NM_000251.3(MSH2):c.187del (p.Gly62_Val63insTer) rs63750160
NM_000251.3(MSH2):c.198C>A (p.Tyr66Ter) rs730881784
NM_000251.3(MSH2):c.1_211del (p.Met1fs)
NM_000251.3(MSH2):c.2089T>C (p.Cys697Arg) rs63750961
NM_000251.3(MSH2):c.211+1G>C rs1114167883
NM_000251.3(MSH2):c.212-1_366+711del
NM_000251.3(MSH2):c.213_1076+1del
NM_000251.3(MSH2):c.2599G>T (p.Glu867Ter)
NM_000251.3(MSH2):c.388_389del (p.Gln130fs) rs63750704
NM_000251.3(MSH2):c.425C>G (p.Ser142Ter) rs63750910
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.793-1G>A rs863225397
NM_000251.3(MSH2):c.793-2A>T
NM_000251.3(MSH2):c.862C>T (p.Gln288Ter) rs63750097
NM_000251.3(MSH2):c.924_942del (p.Ala309fs)
NM_000251.3(MSH2):c.929T>C (p.Leu310Pro) rs63750640
NM_000251.3(MSH2):c.940C>T (p.Gln314Ter) rs1114167845
NM_000251.3(MSH2):c.942+1G>A rs587779193
NM_000251.3(MSH2):c.946del (p.Ser316fs)

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