ClinVar Miner

List of variants reported as pathogenic for Familial adenomatous polyposis 2 by Labcorp Genetics (formerly Invitae), Labcorp

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ClinVar version:
Total variants: 179
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HGVS dbSNP gnomAD frequency
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342 0.00168
NM_001048174.2(MUTYH):c.737G>A (p.Arg246Gln) rs149866955 0.00023
NM_001048174.2(MUTYH):c.616G>A (p.Val206Met) rs200165598 0.00016
NM_001048174.2(MUTYH):c.849+3A>C rs587780751 0.00013
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His) rs140342925 0.00009
NM_001048174.2(MUTYH):c.1156C>T (p.Gln386Ter) rs766420907 0.00006
NM_001048174.2(MUTYH):c.205C>T (p.Arg69Ter) rs138775799 0.00004
NM_001048174.2(MUTYH):c.241C>T (p.Arg81Trp) rs765123255 0.00004
NM_001048174.2(MUTYH):c.305-1G>C rs372267274 0.00004
NM_001048174.2(MUTYH):c.928C>T (p.Gln310Ter) rs587780082 0.00004
NM_001048174.2(MUTYH):c.1130C>T (p.Pro377Leu) rs529008617 0.00003
NM_001048174.2(MUTYH):c.1393G>T (p.Val465Phe) rs587782228 0.00003
NM_001048174.2(MUTYH):c.383G>A (p.Trp128Ter) rs762307622 0.00002
NM_001048174.2(MUTYH):c.460C>T (p.Arg154Cys) rs747993448 0.00002
NM_001048174.2(MUTYH):c.49del (p.Ala17fs) rs587781704 0.00002
NM_001048174.2(MUTYH):c.637C>T (p.Arg213Trp) rs34126013 0.00002
NM_001048174.2(MUTYH):c.649C>T (p.Arg217Cys) rs200495564 0.00002
NM_001048174.2(MUTYH):c.655C>T (p.Arg219Ter) rs587782885 0.00002
NM_001048174.2(MUTYH):c.715C>T (p.Gln239Ter) rs786203115 0.00002
NM_001048174.2(MUTYH):c.1087C>T (p.Gln363Ter) rs587783057 0.00001
NM_001048174.2(MUTYH):c.1102+1G>A rs587781337 0.00001
NM_001048174.2(MUTYH):c.1103-2A>G rs587781628 0.00001
NM_001048174.2(MUTYH):c.1390A>T (p.Lys464Ter) rs863224502 0.00001
NM_001048174.2(MUTYH):c.164C>G (p.Ser55Ter) rs370124822 0.00001
NM_001048174.2(MUTYH):c.170A>G (p.His57Arg) rs558707786 0.00001
NM_001048174.2(MUTYH):c.254G>A (p.Trp85Ter) rs888691362 0.00001
NM_001048174.2(MUTYH):c.268G>T (p.Glu90Ter) rs1553129892 0.00001
NM_001048174.2(MUTYH):c.386C>T (p.Pro129Leu) rs777184451 0.00001
NM_001048174.2(MUTYH):c.437G>A (p.Trp146Ter) rs1306473047 0.00001
NM_001048174.2(MUTYH):c.43C>T (p.Gln15Ter) rs768386527 0.00001
NM_001048174.2(MUTYH):c.493-5A>G rs758377868 0.00001
NM_001048174.2(MUTYH):c.502G>T (p.Glu168Ter) rs745921592 0.00001
NM_001048174.2(MUTYH):c.544C>T (p.Gln182Ter) rs376561094 0.00001
NM_001048174.2(MUTYH):c.559G>A (p.Val187Met) rs776487884 0.00001
NM_001048174.2(MUTYH):c.604C>T (p.Gln202Ter) rs1064796630 0.00001
NM_001048174.2(MUTYH):c.694C>T (p.Gln232Ter) rs773087549 0.00001
NM_001048174.2(MUTYH):c.705G>A (p.Trp235Ter) rs1338038953 0.00001
NM_001048174.2(MUTYH):c.736C>T (p.Arg246Trp) rs769237459 0.00001
NM_001048174.2(MUTYH):c.773G>A (p.Gly258Glu) rs730881833 0.00001
NM_001048174.2(MUTYH):c.800C>T (p.Pro267Leu) rs374950566 0.00001
NM_001048174.2(MUTYH):c.856C>T (p.Gln286Ter) rs587781338 0.00001
NC_000001.10:g.(?_45793451)_(45798111_?)del
NC_000001.10:g.(?_45794978)_(45799285_?)del
NC_000001.10:g.(?_45794978)_(45800193_?)del
NC_000001.10:g.(?_45798269)_(45801500_?)del
NC_000001.10:g.(?_45798384)_(45798589_?)del
NC_000001.10:g.(?_45805881)_(45809328_?)del
NC_000001.11:g.(?_45329296)_(45333334_?)del
NC_000001.11:g.(?_45329300)_(45333609_?)del
NC_000001.11:g.(?_45329306)_(45333324_?)del
NC_000001.11:g.(?_45329306)_(45333334_?)del
NC_000001.11:g.(?_45332568)_(45334517_?)del
NM_001048174.2(MUTYH):c.-6-1317_583del
NM_001048174.2(MUTYH):c.-6-95_42delinsC rs1570465624
NM_001048174.2(MUTYH):c.1003_1006dup (p.Arg336fs)
NM_001048174.2(MUTYH):c.1017del (p.Arg340fs) rs768130289
NM_001048174.2(MUTYH):c.1017dup (p.Arg340fs) rs768130289
NM_001048174.2(MUTYH):c.102_103insGT (p.Ser35fs)
NM_001048174.2(MUTYH):c.1051C>T (p.Gln351Ter) rs745910470
NM_001048174.2(MUTYH):c.1063del (p.Ala357fs) rs587778536
NM_001048174.2(MUTYH):c.1079T>C (p.Leu360Pro) rs1060501335
NM_001048174.2(MUTYH):c.1102+1G>T rs587781337
NM_001048174.2(MUTYH):c.1102+2T>C rs1644886403
NM_001048174.2(MUTYH):c.1112_1119del (p.Ala371fs)
NM_001048174.2(MUTYH):c.1121G>A (p.Trp374Ter)
NM_001048174.2(MUTYH):c.1130_1140del (p.Pro377fs) rs863224501
NM_001048174.2(MUTYH):c.1134del (p.Ser378_Val379insTer) rs1570376147
NM_001048174.2(MUTYH):c.1143_1144dup (p.Glu382fs) rs587780078
NM_001048174.2(MUTYH):c.1160_1167dup (p.Lys390fs) rs2149120039
NM_001048174.2(MUTYH):c.1180C>T (p.Gln394Ter) rs1437789978
NM_001048174.2(MUTYH):c.1182_1194del (p.Gln394fs)
NM_001048174.2(MUTYH):c.1183G>T (p.Glu395Ter) rs1060501321
NM_001048174.2(MUTYH):c.1185del (p.Glu395fs) rs2149119265
NM_001048174.2(MUTYH):c.1196_1205del (p.Trp399fs) rs1553125677
NM_001048174.2(MUTYH):c.1197G>A (p.Trp399Ter) rs1060501325
NM_001048174.2(MUTYH):c.1213del (p.Ala405fs) rs1553125622
NM_001048174.2(MUTYH):c.1237del (p.Glu413fs) rs1064795480
NM_001048174.2(MUTYH):c.1239+1G>A
NM_001048174.2(MUTYH):c.1269dup (p.Thr424fs)
NM_001048174.2(MUTYH):c.1272del (p.Tyr425fs) rs1553125243
NM_001048174.2(MUTYH):c.1275T>G (p.Tyr425Ter) rs774968843
NM_001048174.2(MUTYH):c.1276C>T (p.Gln426Ter) rs769152217
NM_001048174.2(MUTYH):c.127C>T (p.Gln43Ter)
NM_001048174.2(MUTYH):c.1305_1315dup (p.Thr439delinsArgProGlnTer)
NM_001048174.2(MUTYH):c.1312del (p.Pro437_Val438insTer)
NM_001048174.2(MUTYH):c.1341G>A (p.Trp447Ter) rs2149112121
NM_001048174.2(MUTYH):c.1350GGA[1] (p.Glu452del) rs587778541
NM_001048174.2(MUTYH):c.1351G>T (p.Glu451Ter) rs376790729
NM_001048174.2(MUTYH):c.1354G>T (p.Glu452Ter) rs121908381
NM_001048174.2(MUTYH):c.136del (p.Glu46fs) rs2149175646
NM_001048174.2(MUTYH):c.1387A>T (p.Lys463Ter) rs876660774
NM_001048174.2(MUTYH):c.13C>T (p.Arg5Ter) rs587780088
NM_001048174.2(MUTYH):c.1425del (p.Thr476fs) rs2149103038
NM_001048174.2(MUTYH):c.1434+1G>T rs876659420
NM_001048174.2(MUTYH):c.1434+4A>G rs876658323
NM_001048174.2(MUTYH):c.148C>T (p.Gln50Ter) rs1645377813
NM_001048174.2(MUTYH):c.168C>A (p.Tyr56Ter) rs1645371113
NM_001048174.2(MUTYH):c.184del (p.Asp61_Val62insTer)
NM_001048174.2(MUTYH):c.192dup (p.Val65fs) rs1570443585
NM_001048174.2(MUTYH):c.1A>G (p.Met1Val) rs1570467133
NM_001048174.2(MUTYH):c.210del (p.Ser71fs) rs1557486313
NM_001048174.2(MUTYH):c.224G>A (p.Trp75Ter) rs1553130185
NM_001048174.2(MUTYH):c.225G>A (p.Trp75Ter) rs748170941
NM_001048174.2(MUTYH):c.228C>A (p.Tyr76Ter) rs121908380
NM_001048174.2(MUTYH):c.228C>G (p.Tyr76Ter) rs121908380
NM_001048174.2(MUTYH):c.230_242del (p.Asp77fs)
NM_001048174.2(MUTYH):c.249dup (p.Pro84fs) rs878854189
NM_001048174.2(MUTYH):c.274del (p.Glu92fs) rs786203213
NM_001048174.2(MUTYH):c.300T>A (p.Tyr100Ter) rs774798236
NM_001048174.2(MUTYH):c.305-1G>A rs372267274
NM_001048174.2(MUTYH):c.305-2A>G rs863224452
NM_001048174.2(MUTYH):c.307T>A (p.Trp103Arg) rs730881832
NM_001048174.2(MUTYH):c.308G>A (p.Trp103Ter)
NM_001048174.2(MUTYH):c.309G>A (p.Trp103Ter) rs587781295
NM_001048174.2(MUTYH):c.309_322dup (p.Met108fs) rs1553129652
NM_001048174.2(MUTYH):c.310del (p.Val104fs) rs1553129676
NM_001048174.2(MUTYH):c.310dup (p.Val104fs) rs1553129676
NM_001048174.2(MUTYH):c.317_318del (p.Glu106fs) rs2149166157
NM_001048174.2(MUTYH):c.337del (p.Gln113fs) rs1553129638
NM_001048174.2(MUTYH):c.359dup (p.Tyr120Ter)
NM_001048174.2(MUTYH):c.364dup (p.Thr122fs) rs2149164805
NM_001048174.2(MUTYH):c.369_374dup (p.Trp124_Met125insIleTrp) rs876660190
NM_001048174.2(MUTYH):c.371G>A (p.Trp124Ter) rs1645261795
NM_001048174.2(MUTYH):c.376_377del (p.Gln126fs) rs2149164388
NM_001048174.2(MUTYH):c.379-1G>C rs1057520660
NM_001048174.2(MUTYH):c.379-2A>G
NM_001048174.2(MUTYH):c.379A>T (p.Lys127Ter) rs876660787
NM_001048174.2(MUTYH):c.409del (p.Ala137fs) rs2149160869
NM_001048174.2(MUTYH):c.420+19_420+31del rs781222233
NM_001048174.2(MUTYH):c.424del (p.Glu141_Val142insTer) rs1553129062
NM_001048174.2(MUTYH):c.442_451del (p.Gly148fs) rs1057517457
NM_001048174.2(MUTYH):c.461G>A (p.Arg154His) rs143353451
NM_001048174.2(MUTYH):c.475C>T (p.Gln159Ter) rs1553128813
NM_001048174.2(MUTYH):c.497dup (p.Glu167fs)
NM_001048174.2(MUTYH):c.507del (p.Gly171fs) rs2149152823
NM_001048174.2(MUTYH):c.527del (p.Thr176fs)
NM_001048174.2(MUTYH):c.541C>T (p.Gln181Ter) rs2149151527
NM_001048174.2(MUTYH):c.549_576del (p.Leu184fs) rs1570415363
NM_001048174.2(MUTYH):c.60del (p.Arg22fs) rs1060501336
NM_001048174.2(MUTYH):c.627del (p.Asn210fs) rs1645098684
NM_001048174.2(MUTYH):c.632_637delinsCAGCTGCT (p.Val211fs) rs1064793197
NM_001048174.2(MUTYH):c.640del (p.Val214fs)
NM_001048174.2(MUTYH):c.684_702dup (p.Trp235fs) rs2149142768
NM_001048174.2(MUTYH):c.685del (p.Val230fs) rs2149143211
NM_001048174.2(MUTYH):c.704G>A (p.Trp235Ter) rs1570406302
NM_001048174.2(MUTYH):c.718C>T (p.Gln240Ter)
NM_001048174.2(MUTYH):c.727dup (p.Asp243fs)
NM_001048174.2(MUTYH):c.752A>G (p.Asn251Ser) rs587778534
NM_001048174.2(MUTYH):c.764_772del (p.Met255_Gly258delinsArg) rs1645038575
NM_001048174.2(MUTYH):c.775del (p.Ala259fs) rs761468459
NM_001048174.2(MUTYH):c.775dup (p.Ala259fs) rs761468459
NM_001048174.2(MUTYH):c.779_780del (p.Thr260fs) rs2149138656
NM_001048174.2(MUTYH):c.793C>T (p.Gln265Ter) rs1553127659
NM_001048174.2(MUTYH):c.811C>T (p.Gln271Ter) rs2149137694
NM_001048174.2(MUTYH):c.862C>T (p.Gln288Ter)
NM_001048174.2(MUTYH):c.879del (p.Ser294fs) rs776362892
NM_001048174.2(MUTYH):c.887C>A (p.Ser296Ter) rs558173961
NM_001048174.2(MUTYH):c.890_891insACTAAGCCTCAGGGAGCCTGTCGGG (p.Ser298fs)
NM_001048174.2(MUTYH):c.90_93del (p.Ser30fs) rs1645561773
NM_001048174.2(MUTYH):c.914-1G>T rs2149130255
NM_001048174.2(MUTYH):c.91C>T (p.Gln31Ter)
NM_001048174.2(MUTYH):c.924_925del (p.Gly309fs) rs2149129901
NM_001048174.2(MUTYH):c.928del (p.Gln310fs)
NM_001048174.2(MUTYH):c.940_962del (p.Cys314fs) rs1553126848
NM_001048174.2(MUTYH):c.955G>T (p.Glu319Ter)
NM_001048174.2(MUTYH):c.963G>A (p.Trp321Ter) rs1060501324
NM_001048174.2(MUTYH):c.993dup (p.Arg332fs)
NM_001048174.2(MUTYH):c.994del (p.Arg332fs) rs1057517456
NM_001128425.2(MUTYH):c.177_178insCA (p.Glu60fs) rs2149176927
NM_001128425.2(MUTYH):c.178G>T (p.Glu60Ter) rs1557487793
NM_001128425.2(MUTYH):c.178dup (p.Glu60fs)
NM_001128425.2(MUTYH):c.196del (p.Ala66fs)
NM_001128425.2(MUTYH):c.1_7dup (p.Pro3fs) rs1646822375
NM_001128425.2(MUTYH):c.200del (p.Gly67fs) rs746449748
NM_001128425.2(MUTYH):c.27_28del (p.Ser9fs)
NM_001128425.2(MUTYH):c.35G>A (p.Trp12Ter) rs1064795596
NM_001128425.2(MUTYH):c.36G>A (p.Trp12Ter) rs767402084
NM_001128425.2(MUTYH):c.933_933+1del rs1553127514

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