ClinVar Miner

List of variants reported as pathogenic for Lynch syndrome by Integrated Genetics/Laboratory Corporation of America

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 112
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HGVS dbSNP
NM_000179.2 (MSH6):c.3984_3987dupGTCA (p.Leu1330Valfs) rs267608121
NM_000179.2(MSH6):c.10C>T (p.Gln4Ter) rs786201042
NM_000179.2(MSH6):c.1135_1139delAGAGA (p.Arg379Terfs) rs267608077
NM_000179.2(MSH6):c.1190_1191delAT (p.Tyr397Cysfs) rs63750439
NM_000179.2(MSH6):c.1444C>T (p.Arg482Ter) rs63750909
NM_000179.2(MSH6):c.1572C>A (p.Tyr524Ter) rs587779215
NM_000179.2(MSH6):c.1637_1638delAG (p.Glu546Glyfs) rs267608076
NM_000179.2(MSH6):c.1705_1706delTT (p.Phe569Hisfs) rs587783056
NM_000179.2(MSH6):c.2150_2153delTCAG (p.Val717Alafs) rs267608058
NM_000179.2(MSH6):c.2194C>T (p.Arg732Ter) rs63751127
NM_000179.2(MSH6):c.2230dupG (p.Glu744Glyfs) rs786201050
NM_000179.2(MSH6):c.2314C>T (p.Arg772Trp) rs63750138
NM_000179.2(MSH6):c.2503C>T (p.Gln835Ter) rs63751321
NM_000179.2(MSH6):c.2731C>T (p.Arg911Ter) rs63751017
NM_000179.2(MSH6):c.2764C>T (p.Arg922Ter) rs587779246
NM_000179.2(MSH6):c.3013C>T (p.Arg1005Ter) rs63750563
NM_000179.2(MSH6):c.3037_3041delAAGAA (p.Lys1013Valfs) rs587782712
NM_000179.2(MSH6):c.3053_3054delTC (p.Leu1018Hisfs) rs63751407
NM_000179.2(MSH6):c.3155_3156delAG (p.Glu1052Valfs) rs63750833
NM_000179.2(MSH6):c.3202C>T (p.Arg1068Ter) rs63749843
NM_000179.2(MSH6):c.3261delC (p.Phe1088Serfs) rs267608078
NM_000179.2(MSH6):c.3439-1G>T rs587779263
NM_000179.2(MSH6):c.3439-2A>G rs267608098
NM_000179.2(MSH6):c.3476dupA (p.Tyr1159Terfs) rs587782111
NM_000179.2(MSH6):c.3477C>G (p.Tyr1159Ter) rs398123231
NM_000179.2(MSH6):c.3514dupA (p.Arg1172Lysfs) rs63751327
NM_000179.2(MSH6):c.3699_3702delAGAA (p.Lys1233Asnfs) rs193922343
NM_000179.2(MSH6):c.3799_3800delAT (p.Met1267Glyfs) rs267608114
NM_000179.2(MSH6):c.3840_3846delGGAGACT (p.Glu1281Leufs) rs63751319
NM_000179.2(MSH6):c.3938_3941dupTTCA (p.Gln1314Hisfs) rs267608126
NM_000179.2(MSH6):c.3939_3940dupTC (p.Gln1314Leufs) rs730881830
NM_000179.2(MSH6):c.3939_3957dup19 (p.Ala1320Serfs) rs63750767
NM_000179.2(MSH6):c.3959_3962delCAAG (p.Ala1320Glufs) rs267608119
NM_000179.2(MSH6):c.3991C>T (p.Arg1331Ter) rs267608094
NM_000179.2(MSH6):c.467C>G (p.Ser156Ter) rs63749873
NM_000179.2(MSH6):c.651dupT (p.Lys218Terfs) rs63750955
NM_000179.2(MSH6):c.718C>T (p.Arg240Ter) rs63750019
NM_000179.2(MSH6):c.892C>T (p.Arg298Ter) rs146816935
NM_000249.3(MLH1):c.1024_1038+1delATGTACTTCACCCAGG rs1553648201
NM_000249.3(MLH1):c.117-2A>G rs267607712
NM_000249.3(MLH1):c.1210_1211delCT (p.Leu404Valfs) rs63751015
NM_000249.3(MLH1):c.1219C>T (p.Gln407Ter) rs1057517541
NM_000249.3(MLH1):c.1225C>T (p.Gln409Ter) rs63751153
NM_000249.3(MLH1):c.1381A>T (p.Lys461Ter) rs63750540
NM_000249.3(MLH1):c.1459C>T (p.Arg487Ter) rs63749795
NM_000249.3(MLH1):c.1731+1G>A rs267607853
NM_000249.3(MLH1):c.1769T>G (p.Leu590Ter) rs1553662753
NM_000249.3(MLH1):c.1790_1791delGGinsATCTGGACC (p.Trp597Tyrfs) rs863225378
NM_000249.3(MLH1):c.184C>T (p.Gln62Ter) rs63751428
NM_000249.3(MLH1):c.1852_1854delAAG (p.Lys618del) rs587782285
NM_000249.3(MLH1):c.199G>C (p.Gly67Arg) rs63750206
NM_000249.3(MLH1):c.2093C>G (p.Ser698Ter) rs587778975
NM_000249.3(MLH1):c.2103G>C (p.Gln701His) rs63750603
NM_000249.3(MLH1):c.2141G>A (p.Trp714Ter) rs63751022
NM_000249.3(MLH1):c.2142G>A (p.Trp714Ter) rs63750978
NM_000249.3(MLH1):c.245C>T (p.Thr82Ile) rs63750005
NM_000249.3(MLH1):c.298C>T (p.Arg100Ter) rs63751221
NM_000249.3(MLH1):c.350C>T (p.Thr117Met) rs63750781
NM_000249.3(MLH1):c.454-1G>A rs193922370
NM_000249.3(MLH1):c.545+3A>G rs267607760
NM_000249.3(MLH1):c.589-2A>G rs267607767
NM_000249.3(MLH1):c.676C>T (p.Arg226Ter) rs63751615
NM_000249.3(MLH1):c.677G>A (p.Arg226Gln) rs63751711
NM_000249.3(MLH1):c.731G>A (p.Gly244Asp) rs63750303
NM_000249.3(MLH1):c.790+1G>A rs267607789
NM_000249.3(MLH1):c.793C>T (p.Arg265Cys) rs63751194
NM_000249.3(MLH1):c.83C>T (p.Pro28Leu) rs63750792
NM_000249.3(MLH1):c.882C>T (p.Leu294=) rs63751707
NM_000251.2(MSH2):c.1030C>T (p.Gln344Ter) rs63750245
NM_000251.2(MSH2):c.1165C>T (p.Arg389Ter) rs587779075
NM_000251.2(MSH2):c.1216C>T (p.Arg406Ter) rs63751108
NM_000251.2(MSH2):c.1221_1222delCT (p.Tyr408Serfs) rs587779076
NM_000251.2(MSH2):c.1226_1227delAG (p.Gln409Argfs) rs63750086
NM_000251.2(MSH2):c.1386+1G>A rs267607957
NM_000251.2(MSH2):c.1477C>T (p.Gln493Ter) rs63750936
NM_000251.2(MSH2):c.1662-2A>G rs267607971
NM_000251.2(MSH2):c.1705_1706delGA (p.Glu569Ilefs) rs63750393
NM_000251.2(MSH2):c.1786_1788delAAT (p.Asn596del) rs63749831
NM_000251.2(MSH2):c.1861C>T (p.Arg621Ter) rs63750508
NM_000251.2(MSH2):c.1865C>T (p.Pro622Leu) rs28929483
NM_000251.2(MSH2):c.1906G>C (p.Ala636Pro) rs63750875
NM_000251.2(MSH2):c.2006-2A>G rs267607991
NM_000251.2(MSH2):c.2021G>A (p.Gly674Asp) rs267607996
NM_000251.2(MSH2):c.2038C>T (p.Arg680Ter) rs63749932
NM_000251.2(MSH2):c.2041C>T (p.Gln681Ter) rs730881762
NM_000251.2(MSH2):c.2113delG (p.Val705Trpfs) rs63749811
NM_000251.2(MSH2):c.2131C>T (p.Arg711Ter) rs63750636
NM_000251.2(MSH2):c.2633_2634delAG (p.Glu878Alafs) rs63751618
NM_000251.2(MSH2):c.2634+1G>A rs267608019
NM_000251.2(MSH2):c.2634+5G>C rs267608017
NM_000251.2(MSH2):c.366+1G>A rs267607924
NM_000251.2(MSH2):c.388_389delCA (p.Gln130Valfs) rs63750704
NM_000251.2(MSH2):c.528_529delTG (p.Cys176Terfs) rs587779164
NM_000251.2(MSH2):c.704_705delAA (p.Lys235Argfs) rs281864944
NM_000251.2(MSH2):c.811_814delTCTG (p.Ser271Argfs) rs587779185
NM_000251.2(MSH2):c.942+3A>T rs193922376
NM_000251.2(MSH2):c.998G>A (p.Cys333Tyr) rs63750828
NM_000535.5(PMS2):c.1021delA (p.Arg341Glyfs) rs63750049
NM_000535.5(PMS2):c.1927C>T (p.Gln643Ter) rs63751422
NM_000535.5(PMS2):c.2117delA (p.Lys706Serfs) rs587782704
NM_000535.5(PMS2):c.2174+1G>A rs267608172
NM_000535.5(PMS2):c.2186_2187delTC (p.Leu729Glnfs) rs587779335
NM_000535.5(PMS2):c.697C>T (p.Gln233Ter) rs587779343
NM_000535.5(PMS2):c.861_864delACAG (p.Arg287Serfs) rs267608154
NM_000535.6(PMS2):c.137G>T (p.Ser46Ile) rs121434629
NM_000535.6(PMS2):c.1831dup (p.Ile611Asnfs) rs63750250
NM_000535.6(PMS2):c.1874delT (p.Leu625Terfs) rs786203073
NM_000535.6(PMS2):c.251-2A>T rs587779340
NM_000535.6(PMS2):c.2T>A (p.Met1Lys) rs587780059
NM_000535.6(PMS2):c.400C>T (p.Arg134Ter) rs63750871
NM_000535.6(PMS2):c.736_741delCCCCCTinsTGTGTGTGAAG (p.Pro246Cysfs) rs267608150
NM_000535.6(PMS2):c.765C>A (p.Tyr255Ter) rs573125799

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