ClinVar Miner

List of variants reported as pathogenic for Lynch syndrome by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 81
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HGVS dbSNP gnomAD frequency
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_000251.3(MSH2):c.1906G>C (p.Ala636Pro) rs63750875 0.00003
NM_000179.3(MSH6):c.10C>T (p.Gln4Ter) rs786201042 0.00002
NM_000179.3(MSH6):c.1444C>T (p.Arg482Ter) rs63750909 0.00001
NM_000179.3(MSH6):c.3514dup (p.Arg1172fs) rs63751327 0.00001
NM_000179.3(MSH6):c.3939_3957dup (p.Ala1320delinsSerLysGlyThrTer) rs63750767 0.00001
NM_000179.3(MSH6):c.467C>G (p.Ser156Ter) rs63749873 0.00001
NM_000179.3(MSH6):c.892C>T (p.Arg298Ter) rs146816935 0.00001
NM_000249.4(MLH1):c.2059C>T (p.Arg687Trp) rs63751275 0.00001
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_000535.7(PMS2):c.2174+1G>A rs267608172 0.00001
NM_000535.7(PMS2):c.400C>T (p.Arg134Ter) rs63750871 0.00001
NM_000535.7(PMS2):c.943C>T (p.Arg315Ter) rs200640585 0.00001
NM_000179.3(MSH6):c.1135_1139del (p.Arg378_Arg379insTer) rs267608077
NM_000179.3(MSH6):c.1190_1191del (p.Tyr397fs) rs63750439
NM_000179.3(MSH6):c.1572C>A (p.Tyr524Ter) rs587779215
NM_000179.3(MSH6):c.1705_1706del (p.Phe569fs) rs587783056
NM_000179.3(MSH6):c.1805C>G (p.Ser602Ter) rs730881816
NM_000179.3(MSH6):c.2150_2153del (p.Val717fs) rs267608058
NM_000179.3(MSH6):c.2314C>T (p.Arg772Trp) rs63750138
NM_000179.3(MSH6):c.3053_3054del (p.Leu1018fs) rs63751407
NM_000179.3(MSH6):c.3261del (p.Phe1088fs) rs267608078
NM_000179.3(MSH6):c.3439-1G>T rs587779263
NM_000179.3(MSH6):c.3477C>G (p.Tyr1159Ter) rs398123231
NM_000179.3(MSH6):c.3840_3846del (p.Glu1281fs) rs63751319
NM_000179.3(MSH6):c.3938_3941dup (p.Gln1314fs) rs267608126
NM_000179.3(MSH6):c.3959_3962del (p.Ala1320fs) rs267608120
NM_000179.3(MSH6):c.3984_3987dup (p.Leu1330fs) rs267608121
NM_000179.3(MSH6):c.718C>T (p.Arg240Ter) rs63750019
NM_000179.3(MSH6):c.900dup (p.Lys301fs) rs863225421
NM_000249.4(MLH1):c.1024_1038+1del rs1553648201
NM_000249.4(MLH1):c.1210_1211del (p.Leu404fs) rs63751015
NM_000249.4(MLH1):c.1225C>T (p.Gln409Ter) rs63751153
NM_000249.4(MLH1):c.1381A>T (p.Lys461Ter) rs63750540
NM_000249.4(MLH1):c.1459C>T (p.Arg487Ter) rs63749795
NM_000249.4(MLH1):c.1731+1G>A rs267607853
NM_000249.4(MLH1):c.1846AAG[2] (p.Lys618del) rs63751247
NM_000249.4(MLH1):c.184C>T (p.Gln62Ter) rs63751428
NM_000249.4(MLH1):c.199G>C (p.Gly67Arg) rs63750206
NM_000249.4(MLH1):c.2093C>G (p.Ser698Ter) rs587778975
NM_000249.4(MLH1):c.2101C>T (p.Gln701Ter) rs63750114
NM_000249.4(MLH1):c.2141G>A (p.Trp714Ter) rs63751022
NM_000249.4(MLH1):c.2142G>A (p.Trp714Ter) rs63750978
NM_000249.4(MLH1):c.350C>T (p.Thr117Met) rs63750781
NM_000249.4(MLH1):c.454-1G>A rs193922370
NM_000249.4(MLH1):c.545+3A>G rs267607760
NM_000249.4(MLH1):c.589-2A>G rs267607767
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.731G>A (p.Gly244Asp) rs63750303
NM_000249.4(MLH1):c.790+1G>A rs267607789
NM_000249.4(MLH1):c.793C>T (p.Arg265Cys) rs63751194
NM_000249.4(MLH1):c.83C>T (p.Pro28Leu) rs63750792
NM_000251.3(MSH2):c.1030C>T (p.Gln344Ter) rs63750245
NM_000251.3(MSH2):c.1076+1G>A rs267607940
NM_000251.3(MSH2):c.1120C>T (p.Gln374Ter) rs63750558
NM_000251.3(MSH2):c.1165C>T (p.Arg389Ter) rs587779075
NM_000251.3(MSH2):c.1216C>T (p.Arg406Ter) rs63751108
NM_000251.3(MSH2):c.1221_1222del (p.Tyr408fs) rs587779076
NM_000251.3(MSH2):c.1226_1227del (p.Gln409fs) rs63750086
NM_000251.3(MSH2):c.1477C>T (p.Gln493Ter) rs63750936
NM_000251.3(MSH2):c.1705_1706del (p.Glu569fs) rs63750393
NM_000251.3(MSH2):c.1786_1788del (p.Asn596del) rs63749831
NM_000251.3(MSH2):c.1865C>T (p.Pro622Leu) rs28929483
NM_000251.3(MSH2):c.2021G>A (p.Gly674Asp) rs267607996
NM_000251.3(MSH2):c.2038C>T (p.Arg680Ter) rs63749932
NM_000251.3(MSH2):c.2041C>T (p.Gln681Ter) rs730881762
NM_000251.3(MSH2):c.2633_2634del (p.Glu878fs) rs63751618
NM_000251.3(MSH2):c.2634+1G>A rs267608019
NM_000251.3(MSH2):c.2634+5G>C rs267608017
NM_000251.3(MSH2):c.388_389del (p.Gln130fs) rs63750704
NM_000251.3(MSH2):c.528_529del (p.Cys176_Glu177delinsTer) rs587779164
NM_000251.3(MSH2):c.704_705del (p.Lys235fs) rs281864944
NM_000251.3(MSH2):c.811_814del (p.Ser271fs) rs587779185
NM_000535.7(PMS2):c.1831dup (p.Ile611fs) rs63750250
NM_000535.7(PMS2):c.631C>T (p.Arg211Ter) rs760228510
NM_000535.7(PMS2):c.697C>T (p.Gln233Ter) rs587779343
NM_000535.7(PMS2):c.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer) rs267608150
NM_000535.7(PMS2):c.765C>A (p.Tyr255Ter) rs573125799
NM_000535.7(PMS2):c.861_864del (p.Arg287fs) rs267608154

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