ClinVar Miner

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

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 84
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HGVS dbSNP
NM_000179.2(MSH6):c.1128_1132del (p.Arg378_Arg379insTer) rs1114167801
NM_000179.2(MSH6):c.1255_1268del (p.Gln419fs) rs876661251
NM_000179.2(MSH6):c.2057G>A (p.Gly686Asp) rs587779227
NM_000179.2(MSH6):c.2124_2126dup (p.Tyr709Ter) rs1558664335
NM_000179.2(MSH6):c.2983G>T (p.Glu995Ter) rs63750258
NM_000179.2(MSH6):c.3226C>T (p.Arg1076Cys) rs63750617
NM_000179.2(MSH6):c.3463C>T (p.Gln1155Ter) rs1553332166
NM_000179.2(MSH6):c.3477C>A (p.Tyr1159Ter) rs398123231
NM_000179.2(MSH6):c.3556+1del rs1064793489
NM_000179.2(MSH6):c.3574del (p.Val1192fs) rs1553332671
NM_000179.2(MSH6):c.3646+1G>T rs1553332772
NM_000179.2(MSH6):c.3660_3663dup (p.Phe1222fs) rs752404604
NM_000179.2(MSH6):c.3699_3702dup (p.Leu1235fs) rs193922343
NM_000179.2(MSH6):c.3725G>A (p.Arg1242His) rs63750119
NM_000179.2(MSH6):c.3814_3827dup (p.Asp1277fs) rs1558393070
NM_000179.2(MSH6):c.3841_3847dup (p.Ile1283fs) rs1114167720
NM_000179.2(MSH6):c.3850dup (p.Thr1284fs) rs1553333421
NM_000179.2(MSH6):c.3922_3944dup (p.Lys1315fs) rs1553333599
NM_000179.2(MSH6):c.3936_3951del (p.Ile1313fs) rs1553333635
NM_000179.2(MSH6):c.4001+1G>C rs1114167729
NM_000179.3(MSH6):c.1933del (p.Glu645fs) rs1558663559
NM_000249.3(MLH1):c.1038G>A (p.Gln346=) rs63751715
NM_000249.3(MLH1):c.1409+1G>A rs267607825
NM_000249.3(MLH1):c.1409+1G>T rs267607825
NM_000249.3(MLH1):c.1410-2_1410-1delinsCC rs1559558071
NM_000249.3(MLH1):c.1517T>C (p.Val506Ala) rs63749909
NM_000249.3(MLH1):c.1558+1G>A rs267607832
NM_000249.3(MLH1):c.1597del (p.Cys533fs) rs1559575107
NM_000249.3(MLH1):c.1731+1G>T rs267607853
NM_000249.3(MLH1):c.187G>A (p.Asp63Asn) rs63750850
NM_000249.3(MLH1):c.1897-2A>G rs267607871
NM_000249.3(MLH1):c.1989+1G>T rs267607879
NM_000249.3(MLH1):c.2038T>C (p.Cys680Arg) rs63750809
NM_000249.3(MLH1):c.2084C>A (p.Ser695Ter) rs63749995
NM_000249.3(MLH1):c.304G>A (p.Glu102Lys) rs63750453
NM_000249.3(MLH1):c.454-1G>C rs193922370
NM_000249.3(MLH1):c.927dup (p.Thr310fs) rs1553647995
NM_000249.3(MLH1):c.960_964dup (p.Ile322fs) rs1553648047
NM_000251.2(MSH2):c.1077-66_1146del rs193922372
NM_000251.2(MSH2):c.10C>T (p.Gln4Ter) rs878853797
NM_000251.2(MSH2):c.1224T>G (p.Tyr408Ter) rs63750132
NM_000251.2(MSH2):c.1251_1268delinsAGTT (p.Ile418fs) rs863225388
NM_000251.2(MSH2):c.1401del (p.Glu467fs) rs1553365711
NM_000251.2(MSH2):c.1510+1G>A rs1114167852
NM_000251.2(MSH2):c.1511-1G>A rs267607964
NM_000251.2(MSH2):c.1571G>C (p.Arg524Pro) rs63751207
NM_000251.2(MSH2):c.1827del (p.His610fs) rs587779112
NM_000251.2(MSH2):c.1838dup (p.Asn613fs) rs1114167815
NM_000251.2(MSH2):c.1915C>T (p.His639Tyr) rs28929484
NM_000251.2(MSH2):c.2335dup (p.Met779fs) rs63750149
NM_000251.2(MSH2):c.2425G>T (p.Glu809Ter) rs202145681
NM_000251.2(MSH2):c.2466T>A (p.Cys822Ter) rs63749846
NM_000251.2(MSH2):c.301_306del (p.Glu101_Val102del) rs587779157
NM_000251.2(MSH2):c.340G>T (p.Glu114Ter) rs878853815
NM_000251.2(MSH2):c.845_848del (p.Asp282fs) rs1553352462
NM_000251.2(MSH2):c.860dup (p.Gln288fs) rs193922375
NM_000535.7(PMS2):c.1076dup (p.Leu359fs) rs267608156
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.1632_1633CT[1] (p.Ser545fs) rs753256070
NM_000535.7(PMS2):c.1909C>T (p.Gln637Ter) rs1554297125
NM_000535.7(PMS2):c.1970del (p.Asn657fs) rs1064794566
NM_000535.7(PMS2):c.1A>G (p.Met1Val) rs587779333
NM_000535.7(PMS2):c.2500_2501delinsG (p.Met834fs) rs587781626
NM_000535.7(PMS2):c.2533del (p.His845fs) rs1064796500
NM_000535.7(PMS2):c.733_741delinsGCTGTGCTGTGAAG (p.Leu245_Pro247delinsAlaValLeuTer) rs1554301495
NM_000535.7(PMS2):c.733_741delinsGCTGTGTTGTGAAG (p.Leu245_Pro247delinsAlaValLeuTer) rs1554301495
NM_000535.7(PMS2):c.851del (p.Ser283_Ser284insTer) rs876658964
NM_001167617.2(MLH1):c.-116_-115delinsT rs876660860
NM_001167617.2(MLH1):c.-134del rs63750028
NM_001167617.2(MLH1):c.-46A>G rs587778998
NM_001167618.2(MLH1):c.-255dup rs63751101
NM_001167618.2(MLH1):c.-377del rs876661159
NM_001258281.1(MSH2):c.-31+91del rs1553348760
NM_001281492.1(MSH6):c.1216_1219AGTA[1] (p.Lys407fs) rs863224829
NM_001281492.1(MSH6):c.2145dup (p.Glu716Ter) rs587779241
NM_001281492.1(MSH6):c.2718_2719del (p.Phe907fs) rs1553414519
NM_001281492.1(MSH6):c.2871dup (p.Phe958fs) rs267608078
NM_001281492.1(MSH6):c.778_780delinsAA (p.Asp260fs) rs863225398
NM_001354621.1(MLH1):c.-139-2735del rs63750034
NM_001354621.1(MLH1):c.-13dup rs63750677
NM_001354621.1(MLH1):c.-44_-41dup rs1559544297
NM_001354621.1(MLH1):c.-53dup rs587781554
NM_001354624.1(MLH1):c.-36-5180del rs1553648225

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