ClinVar Miner

List of variants reported as pathogenic for digestive system cancer by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (140):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 298
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HGVS dbSNP gnomAD frequency
NM_000251.3(MSH2):c.942+3A>T rs193922376 0.00072
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_000535.7(PMS2):c.2113G>A (p.Glu705Lys) rs267608161 0.00003
NM_000179.3(MSH6):c.10C>T (p.Gln4Ter) rs786201042 0.00002
NM_000179.3(MSH6):c.1168del (p.Asp390fs) rs753796271 0.00002
NM_000179.3(MSH6):c.3202C>T (p.Arg1068Ter) rs63749843 0.00002
NM_000535.7(PMS2):c.1882C>T (p.Arg628Ter) rs63750451 0.00002
NM_000535.7(PMS2):c.2444C>T (p.Ser815Leu) rs587779338 0.00002
NM_000179.3(MSH6):c.1444C>T (p.Arg482Ter) rs63750909 0.00001
NM_000179.3(MSH6):c.2057G>A (p.Gly686Asp) rs587779227 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.467C>G (p.Ser156Ter) rs63749873 0.00001
NM_000179.3(MSH6):c.651dup (p.Lys218Ter) rs63750955 0.00001
NM_000179.3(MSH6):c.742del (p.Arg248fs) rs587781691 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.298C>T (p.Arg100Ter) rs63751221 0.00001
NM_000251.3(MSH2):c.2047G>A (p.Gly683Arg) rs267607995 0.00001
NM_000251.3(MSH2):c.2131C>T (p.Arg711Ter) rs63750636 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.2155C>T (p.Gln719Ter) rs876659480 0.00001
NM_000535.7(PMS2):c.2174+1G>A rs267608172 0.00001
NM_000535.7(PMS2):c.2404C>T (p.Arg802Ter) rs63751466 0.00001
NM_000535.7(PMS2):c.251-2A>T rs587779340 0.00001
NM_000535.7(PMS2):c.2T>C (p.Met1Thr) rs587780059 0.00001
NM_000535.7(PMS2):c.400C>T (p.Arg134Ter) rs63750871 0.00001
NM_000535.7(PMS2):c.809C>G (p.Ser270Ter) rs786201047 0.00001
NM_000535.7(PMS2):c.943C>T (p.Arg315Ter) rs200640585 0.00001
NM_004360.5(CDH1):c.1137+1G>A rs876660771 0.00001
NC_000002.11:g.(47607109_47612304)_(47698202_47702163)del
NC_000002.11:g.(47630542_47635539)_(47635695_47637232)del
NC_000002.11:g.(47630542_47635539)_(47643569_47656880)del
NC_000002.11:g.(47635695_47637232)_(47637512_47639552)del
NC_000002.11:g.(47635695_47637232)_(47643569_47656880)del
NC_000002.11:g.(47635695_47637232)_(47672797_47690169)del
NC_000002.11:g.(47639700_47641407)_(47641558_47643434)del
NC_000002.11:g.(47657081_47672686)_(47708011_47709917)del
NC_000002.11:g.(47657081_47672686)_(47710368_?)del
NC_000002.11:g.(47672797_47690169)_(47690294_47693796)del
NC_000002.11:g.(48010633_48018065)_(48032167_48032756)del
NC_000002.11:g.(48018263_48023032)_(48033791_48033917)del
NC_000002.11:g.(48028295_48030558)_(48032167_48032756)del
NC_000002.11:g.(?_47596286)_(47614168_?)del
NC_000002.11:g.(?_47596286)_(47630542_47635539)del
NC_000002.11:g.(?_47596286)_(47657081_47672686)del
NC_000002.11:g.(?_47596286)_(47710368_?)del
NC_000002.11:g.(?_47630205)_(47630542_47635539)del
NC_000002.11:g.(?_47630205)_(47698202_47702163)del
NC_000002.11:g.(?_47630205)_(47710368_?)del
NC_000002.12:g.(47379970_47385165)_(47387029_?)del
NC_000002.12:g.(47416430_47429741)_(47445658_47463030)del
NC_000002.12:g.(47429942_47445547)_(47445658_47463030)del
NC_000002.12:g.(?_47403066)_(47410373_47412413)del
NC_000002.12:g.(?_47403066)_(47416430_47429741)del
NC_000003.11:g.(37045966_37048481)_(37048555_37050304)del
NC_000003.11:g.(37061955_37067127)_(37067499_37070274)del
NC_000003.11:g.(37061955_37067127)_(37070424_37081676)dup
NC_000003.11:g.(37083823_37089009)_(37089175_37090007)del
NC_000003.12:g.(37042332_37047518)_(37050847_?)del
NC_000003.12:g.(?_36993349)_(37028933_37040185)del
NC_000007.13:g.(6029587_6031603)_(6042268_6043320)del
NC_000007.13:g.(6031689_6035164)_(6038907_6042083)del
NC_000007.13:g.(?_6010555)_(6027252_6029430)del
NC_000007.14:g.(5987621_5989799)_(5989956_5991972)del
NC_000007.14:g.(5987621_5989799)_(5992058_5995533)del
NC_000007.14:g.(?_5970924)_(6009107_?)del
NM_000179.3(MSH6):c.1109T>C (p.Leu370Ser) rs587779204
NM_000179.3(MSH6):c.1135_1139del (p.Arg378_Arg379insTer) rs267608077
NM_000179.3(MSH6):c.1139_1143del (p.Asp380fs) rs587779206
NM_000179.3(MSH6):c.1168_1170delinsAA (p.Asp390fs) rs863225398
NM_000179.3(MSH6):c.1190_1191del (p.Tyr397fs) rs63750439
NM_000179.3(MSH6):c.1512del (p.Lys504fs) rs1572723270
NM_000179.3(MSH6):c.1571dup (p.Tyr524Ter) rs1553412966
NM_000179.3(MSH6):c.1572C>A (p.Tyr524Ter) rs587779215
NM_000179.3(MSH6):c.1637_1638del (p.Glu546fs) rs267608076
NM_000179.3(MSH6):c.1700dup (p.Phe568fs) rs1553413074
NM_000179.3(MSH6):c.1705_1706del (p.Phe569fs) rs587783056
NM_000179.3(MSH6):c.1767T>A (p.Tyr589Ter) rs1558662873
NM_000179.3(MSH6):c.1767del (p.Pro591fs) rs1114167765
NM_000179.3(MSH6):c.1805C>G (p.Ser602Ter) rs730881816
NM_000179.3(MSH6):c.1815_1816del (p.Lys606fs) rs1060502886
NM_000179.3(MSH6):c.2061T>A (p.Cys687Ter) rs267608068
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.2230dup (p.Glu744fs) rs786201050
NM_000179.3(MSH6):c.2300C>T (p.Thr767Ile) rs587781462
NM_000179.3(MSH6):c.2314C>T (p.Arg772Trp) rs63750138
NM_000179.3(MSH6):c.2503C>T (p.Gln835Ter) rs63751321
NM_000179.3(MSH6):c.2690_2691insG (p.Asn897fs) rs1669498074
NM_000179.3(MSH6):c.2690dup (p.Asn897fs) rs1553414010
NM_000179.3(MSH6):c.2764C>T (p.Arg922Ter) rs587779246
NM_000179.3(MSH6):c.2927del (p.Arg976fs)
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.3053_3054del (p.Leu1018fs) rs63751407
NM_000179.3(MSH6):c.3119_3120del (p.Asn1039_Phe1040insTer) rs267608042
NM_000179.3(MSH6):c.3155_3156del (p.Glu1052fs) rs63750833
NM_000179.3(MSH6):c.3172+1G>T rs587779255
NM_000179.3(MSH6):c.3261del (p.Phe1088fs) rs267608078
NM_000179.3(MSH6):c.3332_3335dup (p.Asp1112delinsGluTer) rs587782562
NM_000179.3(MSH6):c.3439-1G>T rs587779263
NM_000179.3(MSH6):c.3439-2A>G rs267608098
NM_000179.3(MSH6):c.3476dup (p.Tyr1159Ter) rs587782111
NM_000179.3(MSH6):c.3477C>A (p.Tyr1159Ter) rs398123231
NM_000179.3(MSH6):c.3477C>G (p.Tyr1159Ter) rs398123231
NM_000179.3(MSH6):c.3477del (p.Cys1158_Tyr1159insTer) rs1114167767
NM_000179.3(MSH6):c.3573dup (p.Val1192fs) rs1057517764
NM_000179.3(MSH6):c.3602_3614delinsACA (p.Leu1201fs)
NM_000179.3(MSH6):c.3605_3614del (p.Met1202fs)
NM_000179.3(MSH6):c.3699_3702del (p.Lys1233fs) rs193922343
NM_000179.3(MSH6):c.3799_3800del (p.Met1267fs) rs267608114
NM_000179.3(MSH6):c.3840_3846del (p.Glu1281fs) rs63751319
NM_000179.3(MSH6):c.3847_3850dup (p.Thr1284fs) rs267608128
NM_000179.3(MSH6):c.3882del (p.Pro1295fs) rs876658817
NM_000179.3(MSH6):c.3938_3941dup (p.Gln1314fs) rs267608126
NM_000179.3(MSH6):c.3939_3940dup (p.Gln1314fs) rs730881830
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.578del (p.Leu193fs) rs587782281
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.900dup (p.Lys301fs) rs863225421
NM_000249.4(MLH1):c.1024_1038+1del rs1553648201
NM_000249.4(MLH1):c.117-2A>G rs267607712
NM_000249.4(MLH1):c.1210_1211del (p.Leu404fs) rs63751015
NM_000249.4(MLH1):c.1219C>T (p.Gln407Ter) rs1057517541
NM_000249.4(MLH1):c.1225C>T (p.Gln409Ter) rs63751153
NM_000249.4(MLH1):c.1381A>T (p.Lys461Ter) rs63750540
NM_000249.4(MLH1):c.1409+1G>C rs267607825
NM_000249.4(MLH1):c.1411_1414del (p.Lys471Aspfs) rs63751592
NM_000249.4(MLH1):c.1459C>T (p.Arg487Ter) rs63749795
NM_000249.4(MLH1):c.1489dup (p.Arg497fs) rs63750855
NM_000249.4(MLH1):c.1512_1513del (p.Ser505fs)
NM_000249.4(MLH1):c.1559-1G>T rs267607837
NM_000249.4(MLH1):c.1667+1G>A rs1434898623
NM_000249.4(MLH1):c.1684C>T (p.Gln562Ter) rs63751460
NM_000249.4(MLH1):c.1731+1G>A rs267607853
NM_000249.4(MLH1):c.1731G>A (p.Ser577=) rs63751657
NM_000249.4(MLH1):c.1758dup (p.Met587fs) rs63749863
NM_000249.4(MLH1):c.1769T>G (p.Leu590Ter) rs1553662753
NM_000249.4(MLH1):c.1772_1775del (p.Asp591fs) rs63749868
NM_000249.4(MLH1):c.1783_1784del (p.Ser595fs) rs63750035
NM_000249.4(MLH1):c.1790G>A (p.Trp597Ter) rs63750604
NM_000249.4(MLH1):c.1790_1791delinsATCTGGACC (p.Trp597fs) rs863225378
NM_000249.4(MLH1):c.1846AAG[2] (p.Lys618del) rs63751247
NM_000249.4(MLH1):c.184C>T (p.Gln62Ter) rs63751428
NM_000249.4(MLH1):c.1855del (p.Ala619fs) rs63749986
NM_000249.4(MLH1):c.1896G>A (p.Glu632=) rs63751632
NM_000249.4(MLH1):c.1975C>T (p.Arg659Ter) rs63751310
NM_000249.4(MLH1):c.199G>A (p.Gly67Arg) rs63750206
NM_000249.4(MLH1):c.199G>C (p.Gly67Arg) rs63750206
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr) rs63750217
NM_000249.4(MLH1):c.2093C>G (p.Ser698Ter) rs587778975
NM_000249.4(MLH1):c.2101C>T (p.Gln701Ter) rs63750114
NM_000249.4(MLH1):c.2103G>C (p.Gln701His) rs63750603
NM_000249.4(MLH1):c.2141G>A (p.Trp714Ter) rs63751022
NM_000249.4(MLH1):c.2142G>A (p.Trp714Ter) rs63750978
NM_000249.4(MLH1):c.2142del (p.Lys713_Trp714insTer)
NM_000249.4(MLH1):c.2162del (p.Tyr721fs) rs786202767
NM_000249.4(MLH1):c.2252_2253dup (p.Val752fs) rs267607901
NM_000249.4(MLH1):c.2266_2269dup (p.Ter757LeuextTer?) rs267607892
NM_000249.4(MLH1):c.229T>C (p.Cys77Arg) rs63749859
NM_000249.4(MLH1):c.245C>T (p.Thr82Ile) rs63750005
NM_000249.4(MLH1):c.306G>T (p.Glu102Asp) rs63751665
NM_000249.4(MLH1):c.350C>T (p.Thr117Met) rs63750781
NM_000249.4(MLH1):c.454-1G>A rs193922370
NM_000249.4(MLH1):c.545+3A>G rs267607760
NM_000249.4(MLH1):c.588+5G>A rs267607768
NM_000249.4(MLH1):c.589-2A>G rs267607767
NM_000249.4(MLH1):c.650del (p.Arg217fs)
NM_000249.4(MLH1):c.676C>T (p.Arg226Ter) rs63751615
NM_000249.4(MLH1):c.677+1G>T rs267607778
NM_000249.4(MLH1):c.677G>A (p.Arg226Gln) rs63751711
NM_000249.4(MLH1):c.67G>T (p.Glu23Ter) rs63750823
NM_000249.4(MLH1):c.67del (p.Glu23fs) rs63750822
NM_000249.4(MLH1):c.731G>A (p.Gly244Asp) rs63750303
NM_000249.4(MLH1):c.790+1G>A rs267607789
NM_000249.4(MLH1):c.790+2dup rs267607791
NM_000249.4(MLH1):c.793C>T (p.Arg265Cys) rs63751194
NM_000249.4(MLH1):c.83C>T (p.Pro28Leu) rs63750792
NM_000249.4(MLH1):c.882C>T (p.Leu294=) rs63751707
NM_000251.3(MSH2):c.1008del (p.Gln337fs) rs879253899
NM_000251.3(MSH2):c.1030C>T (p.Gln344Ter) rs63750245
NM_000251.3(MSH2):c.1035G>A (p.Trp345Ter) rs63750396
NM_000251.3(MSH2):c.1076+1G>A rs267607940
NM_000251.3(MSH2):c.1120C>T (p.Gln374Ter) rs63750558
NM_000251.3(MSH2):c.1147C>T (p.Arg383Ter) rs63749849
NM_000251.3(MSH2):c.1165C>T (p.Arg389Ter) rs587779075
NM_000251.3(MSH2):c.1204C>T (p.Gln402Ter) rs63751412
NM_000251.3(MSH2):c.1216C>T (p.Arg406Ter) rs63751108
NM_000251.3(MSH2):c.1221_1222del (p.Tyr408fs) rs587779076
NM_000251.3(MSH2):c.1226_1227del (p.Gln409fs) rs63750086
NM_000251.3(MSH2):c.1276+1G>A rs267607950
NM_000251.3(MSH2):c.1386+1G>A rs267607957
NM_000251.3(MSH2):c.1477C>T (p.Gln493Ter) rs63750936
NM_000251.3(MSH2):c.1609A>T (p.Lys537Ter) rs980244810
NM_000251.3(MSH2):c.163del (p.Arg55fs) rs63750337
NM_000251.3(MSH2):c.1662-2A>G rs267607971
NM_000251.3(MSH2):c.1705_1706del (p.Glu569fs) rs63750393
NM_000251.3(MSH2):c.1759+1G>A rs587779108
NM_000251.3(MSH2):c.1786_1788del (p.Asn596del) rs63749831
NM_000251.3(MSH2):c.1827del (p.His610fs) rs587779112
NM_000251.3(MSH2):c.1861C>T (p.Arg621Ter) rs63750508
NM_000251.3(MSH2):c.1865C>T (p.Pro622Leu) rs28929483
NM_000251.3(MSH2):c.1885C>T (p.Gln629Ter) rs63750203
NM_000251.3(MSH2):c.1915C>T (p.His639Tyr) rs28929484
NM_000251.3(MSH2):c.2006-2A>G rs267607991
NM_000251.3(MSH2):c.2021G>A (p.Gly674Asp) rs267607996
NM_000251.3(MSH2):c.2038C>T (p.Arg680Ter) rs63749932
NM_000251.3(MSH2):c.2041C>T (p.Gln681Ter) rs730881762
NM_000251.3(MSH2):c.211+1G>C rs1114167883
NM_000251.3(MSH2):c.2113del (p.Val705fs) rs63749811
NM_000251.3(MSH2):c.217_227del (p.Lys73fs) rs1114167863
NM_000251.3(MSH2):c.2211-2A>G rs267608001
NM_000251.3(MSH2):c.2297del (p.Ile766fs) rs863225394
NM_000251.3(MSH2):c.229_230del (p.Ser77fs) rs63749848
NM_000251.3(MSH2):c.2432T>G (p.Leu811Ter) rs63751018
NM_000251.3(MSH2):c.2502_2508del (p.Asn835fs) rs63751447
NM_000251.3(MSH2):c.2579C>A (p.Ser860Ter) rs63750849
NM_000251.3(MSH2):c.2633_2634del (p.Glu878fs) rs63751618
NM_000251.3(MSH2):c.2634+1G>A rs267608019
NM_000251.3(MSH2):c.2634+5G>C rs267608017
NM_000251.3(MSH2):c.2634G>A (p.Glu878=) rs63751624
NM_000251.3(MSH2):c.2653C>T (p.Gln885Ter) rs63750808
NM_000251.3(MSH2):c.34dup (p.Glu12fs) rs63750614
NM_000251.3(MSH2):c.366+1G>A rs267607924
NM_000251.3(MSH2):c.388_389del (p.Gln130fs) rs63750704
NM_000251.3(MSH2):c.425C>G (p.Ser142Ter) rs63750910
NM_000251.3(MSH2):c.472C>T (p.Gln158Ter) rs63751226
NM_000251.3(MSH2):c.478C>T (p.Gln160Ter) rs63751426
NM_000251.3(MSH2):c.484G>A (p.Gly162Arg) rs63750624
NM_000251.3(MSH2):c.490G>A (p.Gly164Arg) rs63750582
NM_000251.3(MSH2):c.528_529del (p.Cys176_Glu177delinsTer) rs587779164
NM_000251.3(MSH2):c.610G>T (p.Gly204Ter) rs63750574
NM_000251.3(MSH2):c.650_654del (p.Ile217fs) rs63751602
NM_000251.3(MSH2):c.687del (p.Ala230fs) rs63749897
NM_000251.3(MSH2):c.704_705del (p.Lys235fs) rs281864944
NM_000251.3(MSH2):c.811_814del (p.Ser271fs) rs587779185
NM_000251.3(MSH2):c.842C>G (p.Ser281Ter) rs63749991
NM_000251.3(MSH2):c.846del (p.Asp282fs)
NM_000251.3(MSH2):c.932del (p.Asn311fs) rs587779979
NM_000251.3(MSH2):c.943-1G>T rs12476364
NM_000251.3(MSH2):c.970_971del (p.Gln324fs) rs63751044
NM_000251.3(MSH2):c.998G>A (p.Cys333Tyr) rs63750828
NM_000535.6:c.(803+1_804-1)_(903+1_904-1)del
NM_000535.7(PMS2):c.1021del (p.Arg341fs) rs63750049
NM_000535.7(PMS2):c.1067del (p.Lys356fs) rs587781395
NM_000535.7(PMS2):c.1076dup (p.Leu359fs) rs267608156
NM_000535.7(PMS2):c.1112_1113delinsTTTA (p.Asn371fs) rs587779326
NM_000535.7(PMS2):c.1239dup (p.Asp414fs) rs267608159
NM_000535.7(PMS2):c.1515del (p.Phe506fs) rs1583319050
NM_000535.7(PMS2):c.1687C>T (p.Arg563Ter) rs587778618
NM_000535.7(PMS2):c.1730dup (p.Arg578fs) rs587779330
NM_000535.7(PMS2):c.1731_1732delinsAGT (p.Arg578fs) rs1057515572
NM_000535.7(PMS2):c.1738A>T (p.Lys580Ter) rs267608169
NM_000535.7(PMS2):c.1743del (p.Glu582fs) rs1057517801
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.2186_2187del (p.Leu729fs) rs587779335
NM_000535.7(PMS2):c.241G>T (p.Glu81Ter) rs730881919
NM_000535.7(PMS2):c.2445+1G>T rs876661113
NM_000535.7(PMS2):c.2500_2501delinsG (p.Met834fs) rs587781626
NM_000535.7(PMS2):c.2506G>T (p.Glu836Ter) rs786201039
NM_000535.7(PMS2):c.2T>A (p.Met1Lys) rs587780059
NM_000535.7(PMS2):c.51_55del (p.Ile18fs)
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.703C>T (p.Gln235Ter) rs63750261
NM_000535.7(PMS2):c.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer) rs267608150
NM_000535.7(PMS2):c.741_742insGTGTGAAG (p.Ser248delinsValTer)
NM_000535.7(PMS2):c.765C>A (p.Tyr255Ter) rs573125799
NM_000535.7(PMS2):c.802del (p.Tyr268fs) rs267608149
NM_000535.7(PMS2):c.802dup (p.Tyr268fs) rs267608149
NM_000535.7(PMS2):c.823C>T (p.Gln275Ter) rs587780062
NM_000535.7(PMS2):c.857_864del (p.Asp286fs) rs267608154
NM_000535.7(PMS2):c.861_864del (p.Arg287fs) rs267608154
NM_000535.7(PMS2):c.862_863del (p.Gln288fs) rs63750246
NM_000535.7(PMS2):c.88C>T (p.Gln30Ter) rs141577476
NM_004360.5(CDH1):c.1137G>A (p.Thr379=) rs587783050
NM_004360.5(CDH1):c.1212del (p.Asn405fs) rs1597895871
NM_004360.5(CDH1):c.1565+2dup rs1555516200
NM_004360.5(CDH1):c.1578G>A (p.Trp526Ter) rs886039590
NM_004360.5(CDH1):c.1921C>T (p.Gln641Ter) rs587782750
NM_004360.5(CDH1):c.2064_2065del (p.Cys688_Glu689delinsTer) rs587781276
NM_004360.5(CDH1):c.382del (p.His128fs) rs1555514492
NM_004360.5(CDH1):c.603del (p.Val202fs) rs1131690809
NM_004360.5(CDH1):c.715G>A (p.Gly239Arg) rs587780537

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