ClinVar Miner

List of variants reported as likely pathogenic for Lynch syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 304
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_000535.7(PMS2):c.1A>G (p.Met1Val) rs587779333 0.00004
NM_000535.7(PMS2):c.2444C>T (p.Ser815Leu) rs587779338 0.00002
NM_000179.3(MSH6):c.2057G>A (p.Gly686Asp) rs587779227 0.00001
NM_000179.3(MSH6):c.3660_3663dup (p.Phe1222fs) rs752404604 0.00001
NM_000179.3(MSH6):c.892C>T (p.Arg298Ter) rs146816935 0.00001
NM_000249.4(MLH1):c.207+1G>A rs267607718 0.00001
NM_000249.4(MLH1):c.244A>G (p.Thr82Ala) rs587778998 0.00001
NM_000251.3(MSH2):c.2458+2T>C rs1278858560 0.00001
NM_000535.7(PMS2):c.1144+1G>A rs373885654 0.00001
NM_000535.7(PMS2):c.215G>A (p.Gly72Glu) rs730881915 0.00001
NM_000535.7(PMS2):c.251-2A>T rs587779340 0.00001
NM_000535.7(PMS2):c.538-2A>G rs758304323 0.00001
NC_000003.12:g.(?_37011820)_(37017599_?)del
NM_000179.3(MSH6):c.1109T>C (p.Leu370Ser) rs587779204
NM_000179.3(MSH6):c.1128_1132del (p.Arg378_Arg379insTer) rs1114167801
NM_000179.3(MSH6):c.1252T>C (p.Ser418Pro) rs1251033858
NM_000179.3(MSH6):c.1255_1268del (p.Gln419fs) rs876661251
NM_000179.3(MSH6):c.1352del (p.Phe451fs) rs869312769
NM_000179.3(MSH6):c.1453C>T (p.Gln485Ter) rs1114167803
NM_000179.3(MSH6):c.1610_1613del (p.Lys537fs) rs863224829
NM_000179.3(MSH6):c.1621A>C (p.Ser541Arg) rs587779778
NM_000179.3(MSH6):c.1634_1635del (p.Lys545fs) rs267608064
NM_000179.3(MSH6):c.1933del (p.Glu645fs) rs1558663559
NM_000179.3(MSH6):c.2117T>C (p.Phe706Ser) rs587779231
NM_000179.3(MSH6):c.2124_2126dup (p.Tyr709Ter) rs1558664335
NM_000179.3(MSH6):c.24C>G (p.Tyr8Ter) rs746306598
NM_000179.3(MSH6):c.2535dup (p.Glu846Ter) rs587779241
NM_000179.3(MSH6):c.2983G>T (p.Glu995Ter) rs63750258
NM_000179.3(MSH6):c.3018C>A (p.Tyr1006Ter) rs1553414395
NM_000179.3(MSH6):c.3108_3109del (p.Phe1037fs) rs1553414519
NM_000179.3(MSH6):c.3163G>C (p.Ala1055Pro) rs587779254
NM_000179.3(MSH6):c.3172+1G>T rs587779255
NM_000179.3(MSH6):c.3172G>C (p.Asp1058His) rs863225404
NM_000179.3(MSH6):c.3173-1G>C rs397515875
NM_000179.3(MSH6):c.3185G>A (p.Cys1062Tyr) rs1558386797
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs) rs267608078
NM_000179.3(MSH6):c.3431T>G (p.Met1144Arg) rs864622607
NM_000179.3(MSH6):c.3438+1G>A rs267608096
NM_000179.3(MSH6):c.3439-1G>T rs587779263
NM_000179.3(MSH6):c.3439-2A>G rs267608098
NM_000179.3(MSH6):c.3463C>T (p.Gln1155Ter) rs1553332166
NM_000179.3(MSH6):c.3477C>A (p.Tyr1159Ter) rs398123231
NM_000179.3(MSH6):c.3556+1del rs1064793489
NM_000179.3(MSH6):c.3646+1G>T rs1553332772
NM_000179.3(MSH6):c.3646_3646+3del rs267608106
NM_000179.3(MSH6):c.3647-6_3647-1del rs267608112
NM_000179.3(MSH6):c.3699_3702dup (p.Leu1235fs) rs193922343
NM_000179.3(MSH6):c.3722G>A (p.Cys1241Tyr) rs1021631442
NM_000179.3(MSH6):c.3724_3726del (p.Arg1242del) rs63749942
NM_000179.3(MSH6):c.3753_3756dup (p.Val1253fs) rs876661222
NM_000179.3(MSH6):c.3801+1_3801+2insGTAT rs2104547230
NM_000179.3(MSH6):c.3801+2T>C rs1558392617
NM_000179.3(MSH6):c.3814_3827dup (p.Asp1277fs) rs1558393070
NM_000179.3(MSH6):c.3850dup (p.Thr1284fs) rs1553333421
NM_000179.3(MSH6):c.3920_3923dup (p.Pro1309fs) rs1572747278
NM_000179.3(MSH6):c.3922_3944dup (p.Lys1315fs) rs1553333599
NM_000179.3(MSH6):c.3939_3940dup (p.Gln1314fs) rs730881830
NM_000179.3(MSH6):c.3952A>T (p.Arg1318Ter) rs1572747685
NM_000179.3(MSH6):c.3996_3999dup (p.Arg1334fs) rs1553333753
NM_000179.3(MSH6):c.3G>T (p.Met1Ile) rs876660095
NM_000179.3(MSH6):c.4001+1G>C rs1114167729
NM_000179.3(MSH6):c.4001G>C (p.Arg1334Pro) rs267608122
NM_000179.3(MSH6):c.458-1G>A rs267608035
NM_000179.3(MSH6):c.[3601C>G;3724C>A]
NM_000249.3(MLH1):c.546-?_1731+?dup
NM_000249.4(MLH1):c.1011dup (p.Asn338fs) rs63750677
NM_000249.4(MLH1):c.1032del (p.Phe344fs) rs1553648225
NM_000249.4(MLH1):c.1038+1G>C rs267607816
NM_000249.4(MLH1):c.1038G>A (p.Gln346=) rs63751715
NM_000249.4(MLH1):c.1039-2A>G rs267607815
NM_000249.4(MLH1):c.1039-2A>T rs267607815
NM_000249.4(MLH1):c.109G>C (p.Glu37Gln) rs63751012
NM_000249.4(MLH1):c.116+1G>A rs267607709
NM_000249.4(MLH1):c.1278_1279insTG (p.Gln427fs) rs1559553492
NM_000249.4(MLH1):c.1387G>T (p.Gly463Ter) rs1559554339
NM_000249.4(MLH1):c.1409+1G>A rs267607825
NM_000249.4(MLH1):c.1409+2T>G rs587778911
NM_000249.4(MLH1):c.1410-2_1410-1delinsCC rs1559558071
NM_000249.4(MLH1):c.143A>C (p.Gln48Pro) rs587778914
NM_000249.4(MLH1):c.1558+1G>A rs267607832
NM_000249.4(MLH1):c.1558+2T>G rs267607831
NM_000249.4(MLH1):c.1559-1G>A rs267607837
NM_000249.4(MLH1):c.1559-1G>C rs267607837
NM_000249.4(MLH1):c.1559-2A>C rs267607836
NM_000249.4(MLH1):c.156del (p.Glu53fs) rs63750028
NM_000249.4(MLH1):c.1597del (p.Cys533fs) rs1559575107
NM_000249.4(MLH1):c.1664T>C (p.Leu555Pro) rs587778937
NM_000249.4(MLH1):c.1664T>G (p.Leu555Arg) rs587778937
NM_000249.4(MLH1):c.1668-1G>A rs267607845
NM_000249.4(MLH1):c.1668-1G>T rs267607845
NM_000249.4(MLH1):c.1668-3C>A rs267607844
NM_000249.4(MLH1):c.1676T>C (p.Leu559Pro) rs63750059
NM_000249.4(MLH1):c.1721T>C (p.Leu574Pro) rs63751608
NM_000249.4(MLH1):c.1731+1G>C rs267607853
NM_000249.4(MLH1):c.1731+1G>T rs267607853
NM_000249.4(MLH1):c.1731+2T>G rs267607856
NM_000249.4(MLH1):c.1731+3A>T rs267607851
NM_000249.4(MLH1):c.1732-2A>G rs267607852
NM_000249.4(MLH1):c.174_175delinsT (p.Leu58fs) rs876660860
NM_000249.4(MLH1):c.1766C>A (p.Ala589Asp) rs63750016
NM_000249.4(MLH1):c.1832TTG[1] (p.Val612del) rs63750486
NM_000249.4(MLH1):c.1855G>C (p.Ala619Pro) rs267607866
NM_000249.4(MLH1):c.1864del (p.Ala623fs) rs1559588540
NM_000249.4(MLH1):c.187G>A (p.Asp63Asn) rs63750850
NM_000249.4(MLH1):c.1896+1G>A rs267607867
NM_000249.4(MLH1):c.1896+1G>T rs267607867
NM_000249.4(MLH1):c.1896+1del rs267607868
NM_000249.4(MLH1):c.1896+2T>C rs267607869
NM_000249.4(MLH1):c.1897-2A>G rs267607871
NM_000249.4(MLH1):c.1918C>T (p.Pro640Ser) rs63749792
NM_000249.4(MLH1):c.1919C>T (p.Pro640Leu) rs267607875
NM_000249.4(MLH1):c.194G>A (p.Gly65Asp) rs63751465
NM_000249.4(MLH1):c.1984A>C (p.Thr662Pro) rs587778964
NM_000249.4(MLH1):c.1989+1G>C rs267607879
NM_000249.4(MLH1):c.1989+1G>T rs267607879
NM_000249.4(MLH1):c.1990-16_1990-2del rs267607881
NM_000249.4(MLH1):c.1990-1G>T rs267607884
NM_000249.4(MLH1):c.2038T>C (p.Cys680Arg) rs63750809
NM_000249.4(MLH1):c.203T>A (p.Ile68Asn) rs63750281
NM_000249.4(MLH1):c.2048T>C (p.Phe683Ser) rs587778972
NM_000249.4(MLH1):c.2048_2050del (p.Phe683del) rs1553664506
NM_000249.4(MLH1):c.207+1G>T rs267607718
NM_000249.4(MLH1):c.207+1_207+2del rs267607719
NM_000249.4(MLH1):c.207+2T>C rs267607722
NM_000249.4(MLH1):c.208-3C>G rs267607720
NM_000249.4(MLH1):c.2084C>A (p.Ser695Ter) rs63749995
NM_000249.4(MLH1):c.2103+1G>C rs267607888
NM_000249.4(MLH1):c.2103+1G>T rs267607888
NM_000249.4(MLH1):c.2104-1G>T rs587778978
NM_000249.4(MLH1):c.2104-2A>G rs267607889
NM_000249.4(MLH1):c.2153A>C (p.His718Pro) rs587778983
NM_000249.4(MLH1):c.2262del (p.Arg755fs) rs267607904
NM_000249.4(MLH1):c.250A>G (p.Lys84Glu) rs63750641
NM_000249.4(MLH1):c.293_304del (p.Gly98_Gly101del) rs63751691
NM_000249.4(MLH1):c.301G>A (p.Gly101Ser) rs267607726
NM_000249.4(MLH1):c.307-1G>C rs267607736
NM_000249.4(MLH1):c.307-2A>C rs267607732
NM_000249.4(MLH1):c.332C>T (p.Ala111Val) rs63750539
NM_000249.4(MLH1):c.347del (p.Thr116fs) rs876661159
NM_000249.4(MLH1):c.380+1G>A rs267607745
NM_000249.4(MLH1):c.380+2T>C rs267607742
NM_000249.4(MLH1):c.381-2A>G rs267607743
NM_000249.4(MLH1):c.3G>T (p.Met1Ile) rs72481822
NM_000249.4(MLH1):c.440G>A (p.Gly147Glu) rs1060500702
NM_000249.4(MLH1):c.453+1G>T rs267607750
NM_000249.4(MLH1):c.454-13A>G rs267607749
NM_000249.4(MLH1):c.454-1G>C rs193922370
NM_000249.4(MLH1):c.454-1G>T rs193922370
NM_000249.4(MLH1):c.454-2A>G rs267607753
NM_000249.4(MLH1):c.469dup (p.Tyr157fs) rs63751101
NM_000249.4(MLH1):c.543C>G (p.Gly181=) rs1481129490
NM_000249.4(MLH1):c.545+1G>A rs267607765
NM_000249.4(MLH1):c.545G>C (p.Arg182Thr) rs587779021
NM_000249.4(MLH1):c.546-1G>A rs587779022
NM_000249.4(MLH1):c.574_588+2del rs587779023
NM_000249.4(MLH1):c.588+1del rs267607773
NM_000249.4(MLH1):c.588+2T>A rs587779024
NM_000249.4(MLH1):c.589-1G>T rs587779027
NM_000249.4(MLH1):c.589-2A>C rs267607767
NM_000249.4(MLH1):c.677+1G>A rs267607778
NM_000249.4(MLH1):c.677G>T (p.Arg226Leu) rs63751711
NM_000249.4(MLH1):c.677_677+1insT rs587779033
NM_000249.4(MLH1):c.678-1G>A rs267607784
NM_000249.4(MLH1):c.678-1G>T rs267607784
NM_000249.4(MLH1):c.678-2A>G rs587779035
NM_000249.4(MLH1):c.73A>T (p.Ile25Phe) rs63749838
NM_000249.4(MLH1):c.790+1G>C rs267607789
NM_000249.4(MLH1):c.791-1G>T rs267607795
NM_000249.4(MLH1):c.791-2A>G rs267607794
NM_000249.4(MLH1):c.791-7T>A rs587779042
NM_000249.4(MLH1):c.793C>A (p.Arg265Ser) rs63751194
NM_000249.4(MLH1):c.827T>G (p.Ile276Arg) rs1253275403
NM_000249.4(MLH1):c.860del (p.Asn287fs) rs63750034
NM_000249.4(MLH1):c.875T>C (p.Leu292Pro) rs63750517
NM_000249.4(MLH1):c.884+2T>C rs267607806
NM_000249.4(MLH1):c.885-2A>G rs267607805
NM_000249.4(MLH1):c.911A>T (p.Asp304Val) rs63750993
NM_000249.4(MLH1):c.927dup (p.Thr310fs) rs1553647995
NM_000249.4(MLH1):c.960_964dup (p.Ile322fs) rs1553648047
NM_000249.4(MLH1):c.971dup (p.Arg325fs) rs587781554
NM_000249.4(MLH1):c.980_983dup (p.His329fs) rs1559544297
NM_000251.2(MSH2):c.-78_-77del rs587779182
NM_000251.2(MSH2):c.1077-66_1146del rs193922372
NM_000251.2(MSH2):c.1077-?_*279+?del
NM_000251.2(MSH2):c.1077-?_1276+?dup
NM_000251.2(MSH2):c.212-?_366+?dup
NM_000251.2(MSH2):c.646-?_792+?del
NM_000251.2(MSH2):c.793-?_1276+?dup
NM_000251.3(MSH2):c.1022T>C (p.Leu341Pro) rs63751147
NM_000251.3(MSH2):c.1076+1G>T rs267607940
NM_000251.3(MSH2):c.1077-1G>C rs267607944
NM_000251.3(MSH2):c.1077-1G>T rs267607944
NM_000251.3(MSH2):c.1077-2A>G rs267607943
NM_000251.3(MSH2):c.1077-2A>T rs267607943
NM_000251.3(MSH2):c.1224T>G (p.Tyr408Ter) rs63750132
NM_000251.3(MSH2):c.1251_1268delinsAGTT (p.Ile418fs) rs863225388
NM_000251.3(MSH2):c.1276+1G>C rs267607950
NM_000251.3(MSH2):c.1276+1G>T rs267607950
NM_000251.3(MSH2):c.1276+2T>A rs267607953
NM_000251.3(MSH2):c.1277-1G>A rs267607948
NM_000251.3(MSH2):c.1277-1G>C rs267607948
NM_000251.3(MSH2):c.1277-2A>C rs267607949
NM_000251.3(MSH2):c.1277-2A>T rs267607949
NM_000251.3(MSH2):c.1386+1G>A rs267607957
NM_000251.3(MSH2):c.1386+1G>C rs267607957
NM_000251.3(MSH2):c.1386+1G>T rs267607957
NM_000251.3(MSH2):c.1387-1G>T rs267607956
NM_000251.3(MSH2):c.1401del (p.Glu467fs) rs1553365711
NM_000251.3(MSH2):c.1510+1G>A rs1114167852
NM_000251.3(MSH2):c.1511-1G>A rs267607964
NM_000251.3(MSH2):c.1571G>C (p.Arg524Pro) rs63751207
NM_000251.3(MSH2):c.1661+1G>A rs267607969
NM_000251.3(MSH2):c.1661+1G>T rs267607969
NM_000251.3(MSH2):c.1662-2A>G rs267607971
NM_000251.3(MSH2):c.1759+1G>A rs587779108
NM_000251.3(MSH2):c.1759+2T>C rs267607976
NM_000251.3(MSH2):c.1760-1G>A rs587779110
NM_000251.3(MSH2):c.1808A>G (p.Asp603Gly) rs267607985
NM_000251.3(MSH2):c.1829A>C (p.His610Pro)
NM_000251.3(MSH2):c.1832T>A (p.Val611Glu) rs1553368590
NM_000251.3(MSH2):c.1838dup (p.Asn613fs) rs1114167815
NM_000251.3(MSH2):c.1915C>T (p.His639Tyr) rs28929484
NM_000251.3(MSH2):c.1955C>A (p.Pro652His) rs267607983
NM_000251.3(MSH2):c.1979A>G (p.Asp660Gly) rs1085308057
NM_000251.3(MSH2):c.2005+1G>A rs267607986
NM_000251.3(MSH2):c.2005+1G>C rs267607986
NM_000251.3(MSH2):c.2005+1G>T rs267607986
NM_000251.3(MSH2):c.2005+2_2005+12del rs587779123
NM_000251.3(MSH2):c.2005+2del rs587779124
NM_000251.3(MSH2):c.2006-1G>C rs267607988
NM_000251.3(MSH2):c.2006-2A>G rs267607991
NM_000251.3(MSH2):c.2020G>C (p.Gly674Arg) rs63750234
NM_000251.3(MSH2):c.2021G>A (p.Gly674Asp) rs267607996
NM_000251.3(MSH2):c.2074G>C (p.Gly692Arg) rs63750232
NM_000251.3(MSH2):c.2074G>T (p.Gly692Trp) rs63750232
NM_000251.3(MSH2):c.2075G>A (p.Gly692Glu) rs63751432
NM_000251.3(MSH2):c.209C>T (p.Ala70Val) rs587782481
NM_000251.3(MSH2):c.211G>C (p.Gly71Arg) rs587782659
NM_000251.3(MSH2):c.212-2A>G rs267607917
NM_000251.3(MSH2):c.2210+1G>A rs267608002
NM_000251.3(MSH2):c.2210+1G>C rs267608002
NM_000251.3(MSH2):c.2211-1G>T rs267607979
NM_000251.3(MSH2):c.2211-2A>C rs267608001
NM_000251.3(MSH2):c.2211-2A>T rs267608001
NM_000251.3(MSH2):c.2245G>A (p.Glu749Lys) rs63751477
NM_000251.3(MSH2):c.2335dup (p.Met779fs) rs63750149
NM_000251.3(MSH2):c.2425G>T (p.Glu809Ter) rs202145681
NM_000251.3(MSH2):c.2458+1G>A rs267608010
NM_000251.3(MSH2):c.2459-12A>G rs267608012
NM_000251.3(MSH2):c.2459-1G>A rs1060501991
NM_000251.3(MSH2):c.2466T>A (p.Cys822Ter) rs63749846
NM_000251.3(MSH2):c.2634+1G>A rs267608019
NM_000251.3(MSH2):c.2634+1G>T rs267608019
NM_000251.3(MSH2):c.2635-1G>T rs267608020
NM_000251.3(MSH2):c.2680dup (p.Met894fs) rs876658211
NM_000251.3(MSH2):c.277C>T (p.Leu93Phe) rs63751429
NM_000251.3(MSH2):c.301_306del (p.Glu101_Val102del) rs587779157
NM_000251.3(MSH2):c.340G>T (p.Glu114Ter) rs878853815
NM_000251.3(MSH2):c.366+1G>T rs267607924
NM_000251.3(MSH2):c.367-1G>A rs267607925
NM_000251.3(MSH2):c.491G>A (p.Gly164Glu) rs786204082
NM_000251.3(MSH2):c.493T>G (p.Tyr165Asp) rs587779163
NM_000251.3(MSH2):c.645+1G>T rs267607689
NM_000251.3(MSH2):c.646-2A>G rs587779169
NM_000251.3(MSH2):c.646-3_654del rs267607929
NM_000251.3(MSH2):c.75del (p.Met26fs) rs1553348760
NM_000251.3(MSH2):c.792+1del rs1064794155
NM_000251.3(MSH2):c.793-2A>C rs267607933
NM_000251.3(MSH2):c.845_848del (p.Asp282fs) rs1553352462
NM_000251.3(MSH2):c.860dup (p.Gln288fs) rs193922375
NM_000251.3(MSH2):c.942+1G>T rs587779193
NM_000251.3(MSH2):c.942+2T>G rs587779195
NM_000251.3(MSH2):c.942+2del rs587779194
NM_000251.3(MSH2):c.943-1G>A rs12476364
NM_000251.3(MSH2):c.943-1G>C rs12476364
NM_000251.3(MSH2):c.943-2A>G rs587779198
NM_000251.3(MSH2):c.[2635-3C>T;2635-5T>C]
NM_000535.6(PMS2):c.1145-?_2174+?dup1030
NM_000535.6(PMS2):c.2007-?_2174+?del
NM_000535.7(PMS2):c.1144+2T>A rs267608158
NM_000535.7(PMS2):c.1336_1402del (p.Ser445_Pro446insTer) rs1562633331
NM_000535.7(PMS2):c.1351del (p.Arg451fs) rs1562634268
NM_000535.7(PMS2):c.163+2T>C rs587779329
NM_000535.7(PMS2):c.1634_1635del (p.Ser545fs) rs753256070
NM_000535.7(PMS2):c.1639dup (p.Ser547fs) rs863224498
NM_000535.7(PMS2):c.164-2A>G rs587779324
NM_000535.7(PMS2):c.1831dup (p.Ile611fs) rs63750250
NM_000535.7(PMS2):c.1909C>T (p.Gln637Ter) rs1554297125
NM_000535.7(PMS2):c.1970del (p.Asn657fs) rs1064794566
NM_000535.7(PMS2):c.2007-1G>A rs267608170
NM_000535.7(PMS2):c.23+21_23+28del rs1554308880
NM_000535.7(PMS2):c.2445+1G>C rs876661113
NM_000535.7(PMS2):c.251-2A>G rs587779340
NM_000535.7(PMS2):c.2533del (p.His845fs) rs1064796500
NM_000535.7(PMS2):c.705+1G>T rs267608147
NM_000535.7(PMS2):c.733_741delinsGCTGTGCTGTGAAG (p.Leu245_Pro247delinsAlaValLeuTer) rs1554301495
NM_000535.7(PMS2):c.741del (p.Ser248fs) rs1583374709
NM_000535.7(PMS2):c.851del (p.Ser283_Ser284insTer) rs876658964
NM_000535.7(PMS2):c.860dup (p.Gln288fs) rs2128775362
NM_000535.7(PMS2):c.903G>A (p.Lys301=) rs267608153
NM_000535.7(PMS2):c.903G>T (p.Lys301Asn) rs267608153
NM_000535.7(PMS2):c.989-2A>G rs587779347
Single allele

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.