ClinVar Miner

List of variants in gene APC reported as pathogenic for Familial adenomatous polyposis

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Gene type:
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Total variants: 137
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HGVS dbSNP
NM_000038.5(APC):c.(?_-37541)_(-27791_?)del
NM_000038.5(APC):c.-85-?_-19+?del
NM_000038.5(APC):c.-85-?_1048+?del
NM_000038.5(APC):c.-85-?_1743+?del
NM_000038.5(APC):c.-85-?_834+?del
NM_000038.5(APC):c.1-?_1408+?del
NM_000038.5(APC):c.1-?_1958+?del
NM_000038.5(APC):c.1-?_8532+?del
NM_000038.5(APC):c.1313-?_8532+?del
NM_000038.5(APC):c.1409-?_1626+?del
NM_000038.5(APC):c.2155-?_3960+?del
NM_000038.5(APC):c.3146-?_8532+?del
NM_000038.5(APC):c.423-?_729+?del
NM_000038.6(APC):c.1048_1141del (p.Ser350fs) rs1554079988
NM_000038.6(APC):c.1121G>A (p.Arg374Gln) rs141582813
NM_000038.6(APC):c.1213C>T (p.Arg405Ter) rs587779780
NM_000038.6(APC):c.1213del (p.Arg405fs) rs1554080070
NM_000038.6(APC):c.1312+3A>G rs863225311
NM_000038.6(APC):c.1343dup (p.Ala449fs) rs1554080695
NM_000038.6(APC):c.1348_1349GT[5] (p.Leu453fs) rs1554080698
NM_000038.6(APC):c.1370C>A (p.Ser457Ter) rs1060503333
NM_000038.6(APC):c.1409-1G>A rs863225313
NM_000038.6(APC):c.1440A>C (p.Gln480His) rs863224537
NM_000038.6(APC):c.147_150del (p.Lys49fs) rs587781694
NM_000038.6(APC):c.1495C>T (p.Arg499Ter) rs137854580
NM_000038.6(APC):c.1548G>C (p.Lys516Asn) rs879254090
NM_000038.6(APC):c.1605_1606del (p.Glu536fs) rs1554081906
NM_000038.6(APC):c.1621C>T (p.Gln541Ter) rs137854572
NM_000038.6(APC):c.1657del (p.Trp553fs) rs1114167594
NM_000038.6(APC):c.1766_1767dup (p.Ser590Ter) rs1554083122
NM_000038.6(APC):c.1779G>A (p.Trp593Ter) rs1554083132
NM_000038.6(APC):c.1787C>G (p.Ser596Ter) rs1554083134
NM_000038.6(APC):c.1866C>A (p.Tyr622Ter) rs876658355
NM_000038.6(APC):c.1886T>G (p.Leu629Ter) rs1019221239
NM_000038.6(APC):c.190G>T (p.Gly64Ter) rs79323615
NM_000038.6(APC):c.1956C>T (p.His652=) rs1064793716
NM_000038.6(APC):c.1958+1G>A rs1114167569
NM_000038.6(APC):c.1958+3A>G rs879254032
NM_000038.6(APC):c.1959-2A>G rs876658214
NM_000038.6(APC):c.1970_1971GA[2] (p.Asn659fs) rs863225322
NM_000038.6(APC):c.2031_2034del (p.Ser678fs) rs878853422
NM_000038.6(APC):c.203T>G (p.Leu68Ter) rs1554069549
NM_000038.6(APC):c.2093T>G (p.Leu698Ter) rs137854582
NM_000038.6(APC):c.2105G>A (p.Gly702Glu) rs876658289
NM_000038.6(APC):c.2161_2170del (p.Gly721fs) rs1554083981
NM_000038.6(APC):c.2186_2187insGCAGCTT (p.Met730fs) rs1554083998
NM_000038.6(APC):c.220+1G>A rs1554069570
NM_000038.6(APC):c.220+2T>A rs587781809
NM_000038.6(APC):c.220G>T (p.Glu74Ter) rs876658941
NM_000038.6(APC):c.2413C>T (p.Arg805Ter) rs587779783
NM_000038.6(APC):c.2547_2550del (p.Asp849fs) rs398123118
NM_000038.6(APC):c.2570del (p.Gly857fs) rs876658472
NM_000038.6(APC):c.2626C>T (p.Arg876Ter) rs121913333
NM_000038.6(APC):c.2677G>T (p.Glu893Ter) rs199740875
NM_000038.6(APC):c.2694del (p.His898fs) rs1554084389
NM_000038.6(APC):c.2802_2805del (p.Tyr935fs) rs1131691143
NM_000038.6(APC):c.2805C>A (p.Tyr935Ter) rs137854575
NM_000038.6(APC):c.2805C>G (p.Tyr935Ter) rs137854575
NM_000038.6(APC):c.2819del (p.Ser940fs) rs1554084508
NM_000038.6(APC):c.2895_2896del (p.Asn965fs) rs1554084576
NM_000038.6(APC):c.2938A>T (p.Lys980Ter) rs1554084592
NM_000038.6(APC):c.2950G>T (p.Glu984Ter) rs1254176854
NM_000038.6(APC):c.2995C>T (p.Gln999Ter) rs75239284
NM_000038.6(APC):c.3028del (p.Ser1010fs) rs1554084648
NM_000038.6(APC):c.3067dup (p.Thr1023fs) rs876658724
NM_000038.6(APC):c.3114_3115del (p.Gly1039fs) rs1554084698
NM_000038.6(APC):c.3183_3187del (p.Lys1061_Gln1062insTer) rs587779352
NM_000038.6(APC):c.3190G>T (p.Glu1064Ter) rs1462312032
NM_000038.6(APC):c.3202_3205del (p.Ser1068fs) rs587779353
NM_000038.6(APC):c.325G>T (p.Glu109Ter) rs1414406816
NM_000038.6(APC):c.3340C>T (p.Arg1114Ter) rs121913331
NM_000038.6(APC):c.3444_3447del (p.Glu1149fs) rs1554085005
NM_000038.6(APC):c.3454C>T (p.Gln1152Ter) rs1064795228
NM_000038.6(APC):c.3467_3470del (p.Glu1156fs) rs1554085029
NM_000038.6(APC):c.346_359del (p.Gly116fs) rs1554069805
NM_000038.6(APC):c.3497_3501del (p.Lys1165_Tyr1166insTer) rs1554085053
NM_000038.6(APC):c.3542T>A (p.Leu1181Ter) rs1554085102
NM_000038.6(APC):c.3567dup (p.Ser1190fs) rs1554085117
NM_000038.6(APC):c.3682C>T (p.Gln1228Ter) rs1554085227
NM_000038.6(APC):c.3707_3708CA[1] (p.Gln1237fs) rs1554085246
NM_000038.6(APC):c.3725del (p.Gln1242fs) rs1554085258
NM_000038.6(APC):c.3766C>T (p.Gln1256Ter) rs77056664
NM_000038.6(APC):c.3786_3787del (p.Tyr1262_Cys1263delinsTer) rs1554085307
NM_000038.6(APC):c.3827_3829delinsA (p.Ser1276fs) rs1554085335
NM_000038.6(APC):c.3901dup (p.Thr1301fs) rs1554085382
NM_000038.6(APC):c.3922_3926AAAGA[1] (p.Glu1309fs) rs121913224
NM_000038.6(APC):c.3982C>T (p.Gln1328Ter) rs398123121
NM_000038.6(APC):c.4060delinsAA (p.Phe1354fs) rs1554085479
NM_000038.6(APC):c.423-1G>A rs397514031
NM_000038.6(APC):c.423G>T (p.Arg141Ser) rs863224458
NM_000038.6(APC):c.4241del (p.Val1414fs) rs1554085659
NM_000038.6(APC):c.426_427del (p.Leu143fs) rs587782557
NM_000038.6(APC):c.4348C>T (p.Arg1450Ter) rs121913332
NM_000038.6(APC):c.4353del (p.Val1452fs) rs1554085817
NM_000038.6(APC):c.4384_4385del (p.Lys1462fs) rs1554085846
NM_000038.6(APC):c.4385_4386AG[3] (p.Glu1464fs) rs387906234
NM_000038.6(APC):c.4385_4386AG[4] (p.Ser1465fs) rs387906234
NM_000038.6(APC):c.4405C>T (p.Gln1469Ter) rs1060503288
NM_000038.6(APC):c.458del (p.Lys153fs) rs1554071521
NM_000038.6(APC):c.4645dup (p.Gln1549fs) rs1554086036
NM_000038.6(APC):c.4660G>T (p.Glu1554Ter) rs1392778905
NM_000038.6(APC):c.4671del (p.Ile1557fs) rs1554086084
NM_000038.6(APC):c.4726G>T (p.Glu1576Ter) rs1554086134
NM_000038.6(APC):c.472dup (p.Tyr158fs) rs1554071555
NM_000038.6(APC):c.4735_4736del (p.Ile1579fs) rs1554086138
NM_000038.6(APC):c.4778_4781AGCC[1] (p.Ala1595fs) rs1554086196
NM_000038.6(APC):c.487C>T (p.Gln163Ter) rs863225362
NM_000038.6(APC):c.492_495del (p.Asn164fs) rs1554071590
NM_000038.6(APC):c.4953_4954del (p.Ser1652fs) rs1554086327
NM_000038.6(APC):c.5017G>T (p.Glu1673Ter) rs587779796
NM_000038.6(APC):c.502del (p.Arg168fs) rs1554071602
NM_000038.6(APC):c.532-8G>A rs1060503323
NM_000038.6(APC):c.539T>A (p.Leu180Ter) rs1554072560
NM_000038.6(APC):c.5541del (p.Pro1848fs) rs1554086805
NM_000038.6(APC):c.5582_5585del (p.Asp1860_Ser1861insTer) rs587776520
NM_000038.6(APC):c.562C>T (p.Gln188Ter) rs869312753
NM_000038.6(APC):c.594dup (p.Ala199fs) rs1554072616
NM_000038.6(APC):c.5978del (p.Pro1993fs) rs1554087123
NM_000038.6(APC):c.6135del (p.Ala2046fs) rs1554087239
NM_000038.6(APC):c.637C>T (p.Arg213Ter) rs587781392
NM_000038.6(APC):c.646-1G>C rs78847145
NM_000038.6(APC):c.646C>T (p.Arg216Ter) rs62619935
NM_000038.6(APC):c.667C>T (p.Gln223Ter) rs1554074738
NM_000038.6(APC):c.6857C>T (p.Ala2286Val) rs200587641
NM_000038.6(APC):c.685delinsTT (p.Leu229fs) rs1554074762
NM_000038.6(APC):c.694C>T (p.Arg232Ter) rs397515734
NM_000038.6(APC):c.706C>T (p.Gln236Ter) rs1554074786
NM_000038.6(APC):c.70C>T (p.Arg24Ter) rs145945630
NM_000038.6(APC):c.730-1G>C rs1554076129
NM_000038.6(APC):c.7960del (p.Thr2654fs) rs1305971005
NM_000038.6(APC):c.839C>G (p.Ser280Ter) rs137854569
NM_000038.6(APC):c.8416C>G (p.Pro2806Ala) rs587780608
NM_000038.6(APC):c.847C>T (p.Arg283Ter) rs786201856
NM_000038.6(APC):c.889_890AC[2] (p.His298fs) rs1114167567
NM_000038.6(APC):c.904C>T (p.Arg302Ter) rs137854568
NM_000038.6(APC):c.937_938del (p.Glu313fs) rs387906239
NM_000038.6(APC):c.994C>T (p.Arg332Ter) rs775126020

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