ClinVar Miner

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

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Total variants: 68
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HGVS dbSNP gnomAD frequency
NM_000179.3(MSH6):c.3660_3663dup (p.Phe1222fs) rs752404604 0.00001
NM_000249.4(MLH1):c.244A>G (p.Thr82Ala) rs587778998 0.00001
NM_000535.7(PMS2):c.538-2A>G rs758304323 0.00001
NM_000179.3(MSH6):c.1128_1132del (p.Arg378_Arg379insTer) rs1114167801
NM_000179.3(MSH6):c.1255_1268del (p.Gln419fs) rs876661251
NM_000179.3(MSH6):c.1352del (p.Phe451fs) rs869312769
NM_000179.3(MSH6):c.1610_1613del (p.Lys537fs) rs863224829
NM_000179.3(MSH6):c.1933del (p.Glu645fs) rs1558663559
NM_000179.3(MSH6):c.2124_2126dup (p.Tyr709Ter) rs1558664335
NM_000179.3(MSH6):c.2535dup (p.Glu846Ter) rs587779241
NM_000179.3(MSH6):c.2983G>T (p.Glu995Ter) rs63750258
NM_000179.3(MSH6):c.3108_3109del (p.Phe1037fs) rs1553414519
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs) rs267608078
NM_000179.3(MSH6):c.3463C>T (p.Gln1155Ter) rs1553332166
NM_000179.3(MSH6):c.3556+1del rs1064793489
NM_000179.3(MSH6):c.3646+1G>T rs1553332772
NM_000179.3(MSH6):c.3699_3702dup (p.Leu1235fs) rs193922343
NM_000179.3(MSH6):c.3814_3827dup (p.Asp1277fs) rs1558393070
NM_000179.3(MSH6):c.3850dup (p.Thr1284fs) rs1553333421
NM_000179.3(MSH6):c.3922_3944dup (p.Lys1315fs) rs1553333599
NM_000179.3(MSH6):c.4001+1G>C rs1114167729
NM_000249.4(MLH1):c.1011dup (p.Asn338fs) rs63750677
NM_000249.4(MLH1):c.1032del (p.Phe344fs) rs1553648225
NM_000249.4(MLH1):c.1038G>A (p.Gln346=) rs63751715
NM_000249.4(MLH1):c.1409+1G>A rs267607825
NM_000249.4(MLH1):c.1410-2_1410-1delinsCC rs1559558071
NM_000249.4(MLH1):c.1558+1G>A rs267607832
NM_000249.4(MLH1):c.156del (p.Glu53fs) rs63750028
NM_000249.4(MLH1):c.1597del (p.Cys533fs) rs1559575107
NM_000249.4(MLH1):c.1731+1G>T rs267607853
NM_000249.4(MLH1):c.174_175delinsT (p.Leu58fs) rs876660860
NM_000249.4(MLH1):c.187G>A (p.Asp63Asn) rs63750850
NM_000249.4(MLH1):c.1989+1G>T rs267607879
NM_000249.4(MLH1):c.2038T>C (p.Cys680Arg) rs63750809
NM_000249.4(MLH1):c.2084C>A (p.Ser695Ter) rs63749995
NM_000249.4(MLH1):c.347del (p.Thr116fs) rs876661159
NM_000249.4(MLH1):c.454-1G>C rs193922370
NM_000249.4(MLH1):c.469dup (p.Tyr157fs) rs63751101
NM_000249.4(MLH1):c.860del (p.Asn287fs) rs63750034
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.1077-66_1146del rs193922372
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.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.1838dup (p.Asn613fs) rs1114167815
NM_000251.3(MSH2):c.211G>C (p.Gly71Arg) rs587782659
NM_000251.3(MSH2):c.2335dup (p.Met779fs) rs63750149
NM_000251.3(MSH2):c.2425G>T (p.Glu809Ter) rs202145681
NM_000251.3(MSH2):c.2466T>A (p.Cys822Ter) rs63749846
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.75del (p.Met26fs) rs1553348760
NM_000251.3(MSH2):c.792+1del rs1064794155
NM_000251.3(MSH2):c.845_848del (p.Asp282fs) rs1553352462
NM_000251.3(MSH2):c.860dup (p.Gln288fs) rs193922375
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.1634_1635del (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.2533del (p.His845fs) rs1064796500
NM_000535.7(PMS2):c.733_741delinsGCTGTGCTGTGAAG (p.Leu245_Pro247delinsAlaValLeuTer) rs1554301495
NM_000535.7(PMS2):c.851del (p.Ser283_Ser284insTer) rs876658964

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