ClinVar Miner

List of variants reported as pathogenic for Lynch-like syndrome

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Total variants: 105
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HGVS dbSNP gnomAD frequency
NM_000251.3(MSH2):c.942+3A>T rs193922376 0.00072
NM_000179.3(MSH6):c.3202C>T (p.Arg1068Ter) rs63749843 0.00002
NM_000249.4(MLH1):c.298C>T (p.Arg100Ter) rs63751221 0.00001
NM_000251.3(MSH2):c.2131C>T (p.Arg711Ter) rs63750636 0.00001
NM_000179.3(MSH6):c.1159del (p.Asp387fs) rs1669301838
NM_000179.3(MSH6):c.1483C>T (p.Arg495Ter) rs587779212
NM_000179.3(MSH6):c.1721C>G (p.Ser574Ter) rs1669365820
NM_000179.3(MSH6):c.1767del (p.Pro591fs) rs1114167765
NM_000179.3(MSH6):c.1819del (p.Thr607fs) rs587779221
NM_000179.3(MSH6):c.2079del (p.Lys693fs) rs267608083
NM_000179.3(MSH6):c.2629G>T (p.Glu877Ter) rs730881797
NM_000179.3(MSH6):c.2677_2678del (p.Leu893fs) rs1572728112
NM_000179.3(MSH6):c.2719del (p.Thr906_Val907insTer) rs1669502158
NM_000179.3(MSH6):c.2836G>T (p.Glu946Ter) rs1558666905
NM_000179.3(MSH6):c.3141G>A (p.Trp1047Ter) rs1553414554
NM_000179.3(MSH6):c.3261_3262del (p.Phe1088fs) rs1669747095
NM_000179.3(MSH6):c.3261del (p.Phe1088fs) rs267608078
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs) rs267608078
NM_000179.3(MSH6):c.3416dup (p.Lys1140fs) rs587781544
NM_000179.3(MSH6):c.3477C>A (p.Tyr1159Ter) rs398123231
NM_000179.3(MSH6):c.3724_3726del (p.Arg1242del) rs63749942
NM_000179.3(MSH6):c.3964G>T (p.Glu1322Ter) rs1553333707
NM_000249.4(MLH1):c.1038+1G>C rs267607816
NM_000249.4(MLH1):c.1081A>T (p.Lys361Ter) rs786201875
NM_000249.4(MLH1):c.1241_1242del (p.Glu414fs) rs2083425688
NM_000249.4(MLH1):c.127A>T (p.Lys43Ter) rs2081161426
NM_000249.4(MLH1):c.1348del (p.Asp450fs) rs587778906
NM_000249.4(MLH1):c.1381A>T (p.Lys461Ter) rs63750540
NM_000249.4(MLH1):c.1423del (p.Glu475fs) rs1575552157
NM_000249.4(MLH1):c.1459C>T (p.Arg487Ter) rs63749795
NM_000249.4(MLH1):c.1557_1558+7del rs2083724808
NM_000249.4(MLH1):c.1731+1G>A rs267607853
NM_000249.4(MLH1):c.1772_1775del (p.Asp591fs) rs63749868
NM_000249.4(MLH1):c.1783_1784del (p.Ser595fs) rs63750035
NM_000249.4(MLH1):c.1791G>A (p.Trp597Ter) rs1416171624
NM_000249.4(MLH1):c.1846AAG[2] (p.Lys618del) rs63751247
NM_000249.4(MLH1):c.1913del (p.Gly638fs) rs2085411304
NM_000249.4(MLH1):c.1990-1G>T rs267607884
NM_000249.4(MLH1):c.199G>A (p.Gly67Arg) rs63750206
NM_000249.4(MLH1):c.19dup (p.Val7fs) rs2080886738
NM_000249.4(MLH1):c.2011G>T (p.Glu671Ter) rs63750663
NM_000249.4(MLH1):c.2013dup (p.Cys672fs) rs2085466105
NM_000249.4(MLH1):c.2098C>T (p.Gln700Ter) rs1553664702
NM_000249.4(MLH1):c.2104-1G>A rs587778978
NM_000249.4(MLH1):c.2136G>A (p.Trp712Ter) rs63750499
NM_000249.4(MLH1):c.2162_2177delinsT (p.Tyr721_Ser726delinsLeu) rs2085633095
NM_000249.4(MLH1):c.2251_2256del (p.Lys751_Val752del) rs2085653401
NM_000249.4(MLH1):c.2271A>C (p.Ter757Tyr) rs267607908
NM_000249.4(MLH1):c.350C>T (p.Thr117Met) rs63750781
NM_000249.4(MLH1):c.380+1G>A rs267607745
NM_000249.4(MLH1):c.3G>T (p.Met1Ile) rs72481822
NM_000249.4(MLH1):c.446dup (p.Ile150fs) rs2081930857
NM_000249.4(MLH1):c.456_460delinsTGGGGA (p.Glu153fs) rs2082048690
NM_000249.4(MLH1):c.469del (p.Tyr157fs) rs63751101
NM_000249.4(MLH1):c.481_482del (p.Thr161fs) rs2082052550
NM_000249.4(MLH1):c.503dup (p.Asn168fs) rs63749959
NM_000249.4(MLH1):c.545+1G>T rs267607765
NM_000249.4(MLH1):c.545+3A>G rs267607760
NM_000249.4(MLH1):c.588del (p.Lys196fs) rs63751653
NM_000249.4(MLH1):c.676C>T (p.Arg226Ter) rs63751615
NM_000249.4(MLH1):c.677G>A (p.Arg226Gln) rs63751711
NM_000249.4(MLH1):c.678-2A>T rs587779035
NM_000249.4(MLH1):c.687del (p.Ile229fs) rs2082522248
NM_000249.4(MLH1):c.790+1G>A rs267607789
NM_000249.4(MLH1):c.790+1del rs267607798
NM_000249.4(MLH1):c.793C>A (p.Arg265Ser) rs63751194
NM_000249.4(MLH1):c.905_911del (p.Asn302fs) rs2082968071
NM_000251.3(MSH2):c.1013G>A (p.Gly338Glu) rs587779065
NM_000251.3(MSH2):c.1034G>A (p.Trp345Ter) rs63751027
NM_000251.3(MSH2):c.1082del (p.Asn361fs) rs1673928022
NM_000251.3(MSH2):c.1147C>T (p.Arg383Ter) rs63749849
NM_000251.3(MSH2):c.1251del (p.Ile418fs) rs1673950263
NM_000251.3(MSH2):c.1259_1276del (p.Ala420_Glu425del) rs1673951492
NM_000251.3(MSH2):c.1276+1G>A rs267607950
NM_000251.3(MSH2):c.1277-2A>G rs267607949
NM_000251.3(MSH2):c.1471A>T (p.Lys491Ter) rs1666730991
NM_000251.3(MSH2):c.1510+1G>A rs1114167852
NM_000251.3(MSH2):c.1548del (p.Ser516fs) rs1666894595
NM_000251.3(MSH2):c.1571_1590dup (p.Lys531delinsValTer) rs1666899452
NM_000251.3(MSH2):c.1581T>A (p.Cys527Ter) rs1249471315
NM_000251.3(MSH2):c.1662-1G>A rs267607970
NM_000251.3(MSH2):c.1738G>T (p.Glu580Ter) rs63751411
NM_000251.3(MSH2):c.1764T>G (p.Tyr588Ter) rs63750844
NM_000251.3(MSH2):c.1777C>T (p.Gln593Ter) rs63750200
NM_000251.3(MSH2):c.1861C>T (p.Arg621Ter) rs63750508
NM_000251.3(MSH2):c.198C>A (p.Tyr66Ter) rs730881784
NM_000251.3(MSH2):c.2038C>T (p.Arg680Ter) rs63749932
NM_000251.3(MSH2):c.2082_2084delinsAG (p.Phe694fs) rs1667306622
NM_000251.3(MSH2):c.212-16_214del rs1672546550
NM_000251.3(MSH2):c.212-1G>A rs267607914
NM_000251.3(MSH2):c.2222_2223del (p.Lys741fs) rs1667386244
NM_000251.3(MSH2):c.226C>T (p.Gln76Ter) rs63750042
NM_000251.3(MSH2):c.2270_2271del (p.Thr756_Tyr757insTer) rs1667389777
NM_000251.3(MSH2):c.2568T>A (p.Tyr856Ter) rs768137500
NM_000251.3(MSH2):c.2634+1G>T rs267608019
NM_000251.3(MSH2):c.263_264dup (p.Val89fs) rs267607920
NM_000251.3(MSH2):c.337A>T (p.Lys113Ter) rs1573437064
NM_000251.3(MSH2):c.367del rs1672654480
NM_000251.3(MSH2):c.387_388del (p.Gln130fs) rs63750924
NM_000251.3(MSH2):c.478C>T (p.Gln160Ter) rs63751426
NM_000251.3(MSH2):c.803C>A (p.Ser268Ter) rs563410947
NM_000251.3(MSH2):c.915del (p.Ala306fs) rs1672956184
NM_000251.3(MSH2):c.978_979insT (p.Ala327fs) rs1673072429
NM_000535.7(PMS2):c.325del (p.Glu109fs) rs587781716
NM_000535.7(PMS2):c.802del (p.Tyr268fs) rs267608149

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