ClinVar Miner

List of variants reported as pathogenic for Lynch syndrome by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 112
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HGVS dbSNP gnomAD frequency
NM_000251.3(MSH2):c.942+3A>T rs193922376 0.00072
NM_000249.4(MLH1):c.1039-7_1040del rs1559551447 0.00061
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_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.1346T>C (p.Leu449Pro) rs63750741 0.00001
NM_000179.3(MSH6):c.2731C>T (p.Arg911Ter) rs63751017 0.00001
NM_000179.3(MSH6):c.3103C>T (p.Arg1035Ter) rs63749999 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.892C>T (p.Arg298Ter) rs146816935 0.00001
NM_000249.4(MLH1):c.2059C>T (p.Arg687Trp) rs63751275 0.00001
NM_000249.4(MLH1):c.244A>G (p.Thr82Ala) rs587778998 0.00001
NM_000249.4(MLH1):c.298C>T (p.Arg100Ter) rs63751221 0.00001
NM_000535.7(PMS2):c.1261C>T (p.Arg421Ter) rs587778617 0.00001
NM_000535.7(PMS2):c.1927C>T (p.Gln643Ter) rs63751422 0.00001
NM_000535.7(PMS2):c.2174+1G>A rs267608172 0.00001
NM_000535.7(PMS2):c.251-2A>T rs587779340 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.1039_1040insC (p.Glu347fs) rs1553412441
NM_000179.3(MSH6):c.1483C>T (p.Arg495Ter) rs587779212
NM_000179.3(MSH6):c.1634_1635del (p.Lys545fs) rs267608064
NM_000179.3(MSH6):c.1634_1637del (p.Lys545fs) rs63749874
NM_000179.3(MSH6):c.1805C>G (p.Ser602Ter) rs730881816
NM_000179.3(MSH6):c.1806_1809del (p.Glu604fs) rs63750735
NM_000179.3(MSH6):c.1993G>T (p.Glu665Ter) rs1333555322
NM_000179.3(MSH6):c.2079dup (p.Cys694fs) rs267608083
NM_000179.3(MSH6):c.2150_2153del (p.Val717fs) rs267608058
NM_000179.3(MSH6):c.2194C>T (p.Arg732Ter) rs63751127
NM_000179.3(MSH6):c.2419G>T (p.Glu807Ter) rs587779923
NM_000179.3(MSH6):c.2739_2740dup (p.Thr914fs) rs1553414092
NM_000179.3(MSH6):c.3013C>T (p.Arg1005Ter) rs63750563
NM_000179.3(MSH6):c.3037_3041del (p.Lys1013fs) rs587782712
NM_000179.3(MSH6):c.3067G>T (p.Glu1023Ter) rs267608059
NM_000179.3(MSH6):c.3108_3109del (p.Phe1037fs) rs1553414519
NM_000179.3(MSH6):c.3261del (p.Phe1088fs) rs267608078
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs) rs267608078
NM_000179.3(MSH6):c.3332_3335dup (p.Asp1112delinsGluTer) rs587782562
NM_000179.3(MSH6):c.3439-2A>G rs267608098
NM_000179.3(MSH6):c.3476dup (p.Tyr1159Ter) rs587782111
NM_000179.3(MSH6):c.3513_3514del (p.Asp1171fs) rs63750194
NM_000179.3(MSH6):c.3556+1G>T rs1060502926
NM_000179.3(MSH6):c.3768T>G (p.Tyr1256Ter) rs63751058
NM_000179.3(MSH6):c.3847_3850dup (p.Thr1284fs) rs267608128
NM_000179.3(MSH6):c.3934_3937dup (p.Ile1313fs) rs760190301
NM_000179.3(MSH6):c.3959_3962del (p.Ala1320fs) rs267608120
NM_000179.3(MSH6):c.3980_3983dup (p.Leu1330fs) rs1553333738
NM_000179.3(MSH6):c.3984_3987dup (p.Leu1330fs) rs267608121
NM_000179.3(MSH6):c.3991C>T (p.Arg1331Ter) rs267608094
NM_000179.3(MSH6):c.4001G>A (p.Arg1334Gln) rs267608122
NM_000179.3(MSH6):c.642C>G (p.Tyr214Ter) rs1800937
NM_000179.3(MSH6):c.718C>T (p.Arg240Ter) rs63750019
NM_000179.3(MSH6):c.742C>T (p.Arg248Ter) rs63749980
NM_000179.3(MSH6):c.845dup (p.Asp284fs) rs1553412283
NM_000179.3(MSH6):c.900dup (p.Lys301fs) rs863225421
NM_000249.3(MLH1):c.(?_1732)_(2271_?)del
NM_000249.4(MLH1):c.1039-1G>A rs267607819
NM_000249.4(MLH1):c.1039-1G>T
NM_000249.4(MLH1):c.1381A>T (p.Lys461Ter) rs63750540
NM_000249.4(MLH1):c.1409+1G>A rs267607825
NM_000249.4(MLH1):c.1410-2_1410-1delinsCC rs1559558071
NM_000249.4(MLH1):c.1668-1G>A rs267607845
NM_000249.4(MLH1):c.1731G>A (p.Ser577=) rs63751657
NM_000249.4(MLH1):c.1989+1G>A rs267607879
NM_000249.4(MLH1):c.199G>A (p.Gly67Arg) rs63750206
NM_000249.4(MLH1):c.2141G>A (p.Trp714Ter) rs63751022
NM_000249.4(MLH1):c.350C>T (p.Thr117Met) rs63750781
NM_000249.4(MLH1):c.589-2A>G rs267607767
NM_000249.4(MLH1):c.791-2A>G rs267607794
NM_000249.4(MLH1):c.793C>T (p.Arg265Cys) rs63751194
NM_000249.4(MLH1):c.885-2A>G rs267607805
NM_000251.3(MSH2):c.115dup (p.Arg39fs)
NM_000251.3(MSH2):c.1204del (p.Gln402fs) rs63751413
NM_000251.3(MSH2):c.1216C>T (p.Arg406Ter) rs63751108
NM_000251.3(MSH2):c.1251_1268delinsAGTT (p.Ile418fs) rs863225388
NM_000251.3(MSH2):c.1293dup (p.Leu432fs) rs1553361162
NM_000251.3(MSH2):c.1384C>T (p.Gln462Ter) rs876657701
NM_000251.3(MSH2):c.1520del (p.Pro507fs) rs1553366510
NM_000251.3(MSH2):c.1637dup (p.Asn547fs) rs1553366642
NM_000251.3(MSH2):c.1662-1G>A rs267607970
NM_000251.3(MSH2):c.2038C>T (p.Arg680Ter) rs63749932
NM_000251.3(MSH2):c.212-1G>A rs267607914
NM_000251.3(MSH2):c.2210+1G>A rs267608002
NM_000251.3(MSH2):c.28C>T (p.Gln10Ter) rs63751099
NM_000251.3(MSH2):c.645+2T>C rs876658996
NM_000251.3(MSH2):c.704_705del (p.Lys235fs) rs281864944
NM_000251.3(MSH2):c.969_970del (p.Gln324fs)
NM_000535.5(PMS2):c.(?_989-5)_(2445+5_?)del
NM_000535.7(PMS2):c.1021del (p.Arg341fs) rs63750049
NM_000535.7(PMS2):c.1275_1279del (p.Leu426fs) rs1554297962
NM_000535.7(PMS2):c.1831dup (p.Ile611fs) rs63750250
NM_000535.7(PMS2):c.1840A>T (p.Lys614Ter) rs63750490
NM_000535.7(PMS2):c.1874del (p.Ser624_Leu625insTer) rs786203073
NM_000535.7(PMS2):c.1939A>T (p.Lys647Ter) rs201451115
NM_000535.7(PMS2):c.2117del (p.Lys706fs) rs587782704
NM_000535.7(PMS2):c.2192_2196del (p.Leu731fs) rs63750695
NM_000535.7(PMS2):c.2239A>T (p.Arg747Ter) rs1554294448
NM_000535.7(PMS2):c.2T>A (p.Met1Lys) rs587780059
NM_000535.7(PMS2):c.338C>A (p.Ser113Ter)
NM_000535.7(PMS2):c.543T>G (p.Tyr181Ter) rs1583387894
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.780del (p.Asp261fs) rs587779344
NM_000535.7(PMS2):c.802dup (p.Tyr268fs) rs267608149
NM_000535.7(PMS2):c.823C>T (p.Gln275Ter) rs587780062
NM_000535.7(PMS2):c.861_864del (p.Arg287fs) rs267608154
NM_000535.7(PMS2):c.88C>T (p.Gln30Ter) rs141577476
NM_000535.7(PMS2):c.989-1G>T rs587780064

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