ClinVar Miner

List of variants in gene APC reported as pathogenic by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 218
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HGVS dbSNP
NM_000038.5(APC):c.104delC (p.Thr35Lysfs) rs1114167593
NM_000038.5(APC):c.1100_1101delCT (p.Ser367Cysfs) rs387906237
NM_000038.5(APC):c.1101delT (p.Val368Tyrfs) rs587782744
NM_000038.5(APC):c.1124delG (p.Gly375Alafs) rs876658538
NM_000038.5(APC):c.1141delG (p.Ala381Profs) rs1554080036
NM_000038.5(APC):c.1178C>G (p.Ser393Ter) rs1114167545
NM_000038.5(APC):c.1213C>T (p.Arg405Ter) rs587779780
NM_000038.5(APC):c.1219delC (p.Leu407Phefs) rs1114167558
NM_000038.5(APC):c.1229dupT (p.Leu410Phefs) rs863225308
NM_000038.5(APC):c.1234C>T (p.Gln412Ter) rs876660802
NM_000038.5(APC):c.1246_1249delTACT (p.Tyr416Valfs) rs1554080089
NM_000038.5(APC):c.1251T>A (p.Cys417Ter) rs1114167607
NM_000038.5(APC):c.1307delA (p.Asn436Ilefs) rs1554080162
NM_000038.5(APC):c.1312+1G>A rs863225310
NM_000038.5(APC):c.1312+2T>C rs1114167579
NM_000038.5(APC):c.1312+5G>A rs886039507
NM_000038.5(APC):c.1333C>T (p.Gln445Ter) rs876658802
NM_000038.5(APC):c.1358delT (p.Leu453Glnfs) rs1554080702
NM_000038.5(APC):c.1370C>G (p.Ser457Ter) rs1060503333
NM_000038.5(APC):c.1409-1G>T rs863225313
NM_000038.5(APC):c.1417C>T (p.Gln473Ter) rs876658868
NM_000038.5(APC):c.1431delA (p.Glu477Aspfs) rs1554081640
NM_000038.5(APC):c.1433delT (p.Leu478Tyrfs) rs1240024893
NM_000038.5(APC):c.1464_1467delTACT (p.Thr489Metfs) rs1114167602
NM_000038.5(APC):c.147_150delACAA (p.Lys49Asnfs) rs587781694
NM_000038.5(APC):c.1485dup (p.Thr496Tyrfs) rs1131691137
NM_000038.5(APC):c.1495C>T (p.Arg499Ter) rs137854580
NM_000038.5(APC):c.1531G>T (p.Gly511Ter) rs876658811
NM_000038.5(APC):c.1548+1G>C rs1114167599
NM_000038.5(APC):c.1548+1G>T rs1114167599
NM_000038.5(APC):c.1548G>A (p.Lys516=) rs879254090
NM_000038.5(APC):c.1548G>C (p.Lys516Asn) rs879254090
NM_000038.5(APC):c.1606G>T (p.Glu536Ter) rs138098808
NM_000038.5(APC):c.1617delCinsTGT (p.Leu540Valfs) rs1114167613
NM_000038.5(APC):c.1621C>T (p.Gln541Ter) rs137854572
NM_000038.5(APC):c.163_164insG (p.Ile55Serfs) rs1554069524
NM_000038.5(APC):c.1654_1658delTCTTG (p.Ser552Alafs) rs876659452
NM_000038.5(APC):c.1657delT (p.Trp553Glyfs) rs1114167594
NM_000038.5(APC):c.1658G>A (p.Trp553Ter) rs863225318
NM_000038.5(APC):c.1660C>T (p.Arg554Ter) rs137854573
NM_000038.5(APC):c.1690C>T (p.Arg564Ter) rs137854574
NM_000038.5(APC):c.1866C>A (p.Tyr622Ter) rs876658355
NM_000038.5(APC):c.1873C>T (p.Gln625Ter) rs876659517
NM_000038.5(APC):c.1886T>G (p.Leu629Ter) rs1019221239
NM_000038.5(APC):c.1886dupT (p.Leu629Phefs) rs863224817
NM_000038.5(APC):c.1957A>C (p.Arg653=) rs1114167580
NM_000038.5(APC):c.1957A>G (p.Arg653Gly) rs1114167580
NM_000038.5(APC):c.1958+1G>A rs1114167569
NM_000038.5(APC):c.1958G>T (p.Arg653Met) rs1060503318
NM_000038.5(APC):c.1968_1969delAA (p.Asn659Glnfs) rs1114167597
NM_000038.5(APC):c.1999C>T (p.Gln667Ter) rs876660130
NM_000038.5(APC):c.2004delC (p.Leu669Terfs) rs587782303
NM_000038.5(APC):c.2036dup (p.Asn679Lysfs) rs1131691140
NM_000038.5(APC):c.2096G>A (p.Trp699Ter) rs1060503336
NM_000038.5(APC):c.2129delT (p.Leu710Profs) rs1114167584
NM_000038.5(APC):c.2138C>G (p.Ser713Ter) rs137854570
NM_000038.5(APC):c.2185_2336del152 (p.Leu729Lysfs) rs1554083990
NM_000038.5(APC):c.220G>T (p.Glu74Ter) rs876658941
NM_000038.5(APC):c.221-2A>G rs786201291
NM_000038.5(APC):c.22C>T (p.Gln8Ter) rs1554067110
NM_000038.5(APC):c.2336dup (p.Leu779Phefs) rs1554084079
NM_000038.5(APC):c.233_236delATAG (p.Asp78Alafs) rs1064793020
NM_000038.5(APC):c.2365C>T (p.Gln789Ter) rs398123117
NM_000038.5(APC):c.2413C>T (p.Arg805Ter) rs587779783
NM_000038.5(APC):c.2426delA (p.Asn809Ilefs) rs1114167573
NM_000038.5(APC):c.2434_2437delGACA (p.Asp812Ilefs) rs1131691136
NM_000038.5(APC):c.2483delC (p.Thr828Ilefs) rs886042600
NM_000038.5(APC):c.2496_2502delCAGCTCC (p.Ser833Leufs) rs1114167576
NM_000038.5(APC):c.2547_2550delTAGA (p.Asp849Glufs) rs398123118
NM_000038.5(APC):c.2570delG (p.Gly857Glufs) rs876658472
NM_000038.5(APC):c.2612delG (p.Gly871Glufs) rs1554084299
NM_000038.5(APC):c.2626C>T (p.Arg876Ter) rs121913333
NM_000038.5(APC):c.2656C>T (p.Gln886Ter) rs755806668
NM_000038.5(APC):c.266C>G (p.Ser89Ter) rs876658846
NM_000038.5(APC):c.2680_2686dupGTGTCAG (p.Ala896Glyfs) rs587781910
NM_000038.5(APC):c.2701C>T (p.Gln901Ter) rs1114167559
NM_000038.5(APC):c.2802_2805delTTAC (p.Tyr935Ilefs) rs1131691143
NM_000038.5(APC):c.2804dupA (p.Tyr935Terfs) rs863225332
NM_000038.5(APC):c.2805C>A (p.Tyr935Ter) rs137854575
NM_000038.5(APC):c.2805C>G (p.Tyr935Ter) rs137854575
NM_000038.5(APC):c.2879_2883delCAAAT (p.Ser960Terfs) rs876660496
NM_000038.5(APC):c.288T>G (p.Tyr96Ter) rs376213437
NM_000038.5(APC):c.2905_2906insC (p.Ser969Thrfs) rs1131691139
NM_000038.5(APC):c.2971G>T (p.Glu991Ter) rs786202995
NM_000038.5(APC):c.2991_2996delTGGTCA (p.Tyr997_Lys1333delinsTer) rs1114167562
NM_000038.5(APC):c.3002delC (p.Pro1001Glnfs) rs1114167586
NM_000038.5(APC):c.301G>T (p.Gly101Ter) rs863225335
NM_000038.5(APC):c.3067dupA (p.Thr1023Asnfs) rs876658724
NM_000038.5(APC):c.311C>G (p.Ser104Ter) rs74953290
NM_000038.5(APC):c.3146G>A (p.Trp1049Ter) rs876658667
NM_000038.5(APC):c.3147G>A (p.Trp1049Ter) rs863225340
NM_000038.5(APC):c.3149delC (p.Ala1050Glufs) rs730882135
NM_000038.5(APC):c.3164_3168delTAATA (p.Ile1055Argfs) rs1554084772
NM_000038.5(APC):c.3183_3187delACAAA (p.Gln1062Terfs) rs587779352
NM_000038.5(APC):c.3183dup (p.Gln1062Thrfs) rs1114167582
NM_000038.5(APC):c.3184_3187delCAAA (p.Gln1062Valfs) rs1114167551
NM_000038.5(APC):c.3202_3205delTCAA (p.Ser1068Glyfs) rs587779353
NM_000038.5(APC):c.3211C>T (p.Gln1071Ter) rs876659539
NM_000038.5(APC):c.3286C>T (p.Gln1096Ter) rs587783029
NM_000038.5(APC):c.3340C>T (p.Arg1114Ter) rs121913331
NM_000038.5(APC):c.3347delG (p.Gly1116Valfs) rs1114167554
NM_000038.5(APC):c.3386delT (p.Leu1129Cysfs) rs1114167616
NM_000038.5(APC):c.3391C>T (p.Gln1131Ter) rs878853438
NM_000038.5(APC):c.3463_3467delGAAGA (p.Glu1155Argfs) rs1114167589
NM_000038.5(APC):c.3471_3474delGAGA (p.Glu1157Aspfs) rs786203020
NM_000038.5(APC):c.3473_3474delGA (p.Arg1158Thrfs) rs786203020
NM_000038.5(APC):c.3486_3487delTA (p.Tyr1162Terfs) rs786202348
NM_000038.5(APC):c.350C>A (p.Ser117Ter) rs1064793535
NM_000038.5(APC):c.3571C>T (p.Gln1191Ter) rs1114167547
NM_000038.5(APC):c.3596dup (p.Ser1200Glufs) rs864622106
NM_000038.5(APC):c.3665C>A (p.Ser1222Ter) rs1114167614
NM_000038.5(APC):c.3688C>T (p.Gln1230Ter) rs863225344
NM_000038.5(APC):c.3734dup (p.Ala1246Glyfs) rs1114167595
NM_000038.5(APC):c.3749_3750delAA (p.Lys1250Serfs) rs1114167583
NM_000038.5(APC):c.3757delT (p.Ser1253Leufs) rs1114167571
NM_000038.5(APC):c.3807_3808delAT (p.Ile1269Metfs) rs786203760
NM_000038.5(APC):c.3810T>A (p.Cys1270Ter) rs863225347
NM_000038.5(APC):c.3920T>A (p.Ile1307Lys) rs1801155
NM_000038.5(APC):c.3925_3928delGAAA (p.Glu1309Argfs) rs876659647
NM_000038.5(APC):c.3927_3931delAAAGA (p.Glu1309Aspfs) rs121913224
NM_000038.5(APC):c.3982C>T (p.Gln1328Ter) rs398123121
NM_000038.5(APC):c.4031C>G (p.Ser1344Ter) rs1114167578
NM_000038.5(APC):c.4054delG (p.Val1352Leufs) rs1114167566
NM_000038.5(APC):c.4057G>T (p.Glu1353Ter) rs1114167568
NM_000038.5(APC):c.4067C>G (p.Ser1356Ter) rs1554085480
NM_000038.5(APC):c.4141_4142insGGTC (p.Pro1381Argfs) rs1554085560
NM_000038.5(APC):c.4167dup (p.Val1390Cysfs) rs1131691146
NM_000038.5(APC):c.4216C>T (p.Gln1406Ter) rs587782518
NM_000038.5(APC):c.423-1G>A rs397514031
NM_000038.5(APC):c.4241dup (p.Ser1415Lysfs) rs1554085654
NM_000038.5(APC):c.426_427delAT (p.Leu143Alafs) rs587782557
NM_000038.5(APC):c.4319delC (p.Pro1440Hisfs) rs1131691145
NM_000038.5(APC):c.4348C>T (p.Arg1450Ter) rs121913332
NM_000038.5(APC):c.4391_4394delAGAG (p.Glu1464Valfs) rs387906234
NM_000038.5(APC):c.4463delT (p.Leu1488Tyrfs) rs1114167577
NM_000038.5(APC):c.4474delG (p.Ala1492Profs) rs1131691144
NM_000038.5(APC):c.453delA (p.Glu152Lysfs) rs863224820
NM_000038.5(APC):c.4549C>T (p.Gln1517Ter) rs1114167596
NM_000038.5(APC):c.4621C>T (p.Gln1541Ter) rs786201801
NM_000038.5(APC):c.4643_4645delACCinsT (p.Asn1548Ilefs) rs1114167601
NM_000038.5(APC):c.4652_4655delAAGA (p.Lys1551Argfs) rs863225358
NM_000038.5(APC):c.465delA (p.Asp156Thrfs) rs1554071529
NM_000038.5(APC):c.4666dup (p.Thr1556Asnfs) rs587783031
NM_000038.5(APC):c.4669_4670delAT (p.Ile1557Terfs) rs786201118
NM_000038.5(APC):c.4682delA (p.Lys1561Argfs) rs1114167552
NM_000038.5(APC):c.4706_4707delAT (p.Asp1569Glyfs) rs876660454
NM_000038.5(APC):c.475dupT (p.Tyr159Leufs) rs863225361
NM_000038.5(APC):c.4770delA (p.Ala1591Glnfs) rs1554086182
NM_000038.5(APC):c.4778delA (p.Lys1593Serfs) rs1554086185
NM_000038.5(APC):c.481C>T (p.Gln161Ter) rs876658325
NM_000038.5(APC):c.4824_4827delACCAinsTAC (p.Lys1608Asnfs) rs786202276
NM_000038.5(APC):c.4890delT (p.Ser1631Valfs) rs1114167606
NM_000038.5(APC):c.4950_4951dup (p.Phe1651Serfs) rs1554086324
NM_000038.5(APC):c.4970dup (p.Ser1658Lysfs) rs1554086340
NM_000038.5(APC):c.497_499delCTAinsTT (p.Thr166Ilefs) rs1114167588
NM_000038.5(APC):c.5038C>T (p.Gln1680Ter) rs754122018
NM_000038.5(APC):c.506_510delTAGAT (p.Ile169Lysfs) rs1554071607
NM_000038.5(APC):c.509_512delATAG (p.Asp170Valfs) rs387906231
NM_000038.5(APC):c.5145delC (p.Asp1715Glufs) rs863225363
NM_000038.5(APC):c.5158delG (p.Glu1720Lysfs) rs876659652
NM_000038.5(APC):c.524_531+4delCTGAAAATGTAA rs863225364
NM_000038.5(APC):c.531+1G>C rs876659973
NM_000038.5(APC):c.531+2T>C rs863225365
NM_000038.5(APC):c.532-8G>A rs1060503323
NM_000038.5(APC):c.5490_5493delTGAA (p.Asn1830Lysfs) rs730881273
NM_000038.5(APC):c.5520delT (p.Phe1840Leufs) rs1114167555
NM_000038.5(APC):c.5572C>T (p.Arg1858Ter) rs1270783041
NM_000038.5(APC):c.568_569dupGA (p.Tyr191Asnfs) rs876658176
NM_000038.5(APC):c.5757delT (p.Arg1920Glufs) rs786201134
NM_000038.5(APC):c.5826_5829delCAGA (p.Asp1942Glufs) rs864622228
NM_000038.5(APC):c.5920delG (p.Asp1974Thrfs) rs1554087070
NM_000038.5(APC):c.5934_5937delAAAC (p.Asn1979Thrfs) rs587781330
NM_000038.5(APC):c.5944A>T (p.Lys1982Ter) rs876660665
NM_000038.5(APC):c.5973delG (p.Glu1991Aspfs) rs876659015
NM_000038.5(APC):c.6053delC (p.Pro2018Glnfs) rs1131691142
NM_000038.5(APC):c.6059_6062delGTTT (p.Cys2020Serfs) rs876660174
NM_000038.5(APC):c.607C>T (p.Gln203Ter) rs141576417
NM_000038.5(APC):c.6126_6141del16 (p.Ile2043Glnfs) rs786203024
NM_000038.5(APC):c.622C>T (p.Gln208Ter) rs137854583
NM_000038.5(APC):c.6344T>G (p.Leu2115Ter) rs876659022
NM_000038.5(APC):c.637C>T (p.Arg213Ter) rs587781392
NM_000038.5(APC):c.6390_6391delTG (p.Asp2131Phefs) rs1554087390
NM_000038.5(APC):c.643C>T (p.Gln215Ter) rs137854577
NM_000038.5(APC):c.645+1G>T rs863225370
NM_000038.5(APC):c.646C>T (p.Arg216Ter) rs62619935
NM_000038.5(APC):c.6709C>T (p.Arg2237Ter) rs768922431
NM_000038.5(APC):c.6905C>G (p.Ser2302Ter) rs767372014
NM_000038.5(APC):c.694C>T (p.Arg232Ter) rs397515734
NM_000038.5(APC):c.697C>T (p.Gln233Ter) rs1554074772
NM_000038.5(APC):c.70C>T (p.Arg24Ter) rs145945630
NM_000038.5(APC):c.723dup (p.Ala242Serfs) rs1114167565
NM_000038.5(APC):c.7271C>G (p.Ser2424Ter) rs1554088206
NM_000038.5(APC):c.7477_7478delCT (p.Leu2493Ilefs) rs1554088391
NM_000038.5(APC):c.7512G>A (p.Trp2504Ter) rs1554088413
NM_000038.5(APC):c.7715C>G (p.Ser2572Ter) rs876659280
NM_000038.5(APC):c.7744delG (p.Glu2582Lysfs) rs1554088632
NM_000038.5(APC):c.7932_7935delTTAT (p.Tyr2645Lysfs) rs1554088762
NM_000038.5(APC):c.8047delA (p.Ile2683Leufs) rs1114167604
NM_000038.5(APC):c.825delT (p.Asn276Metfs) rs1554076216
NM_000038.5(APC):c.847C>T (p.Arg283Ter) rs786201856
NM_000038.5(APC):c.875T>A (p.Leu292Ter) rs876660439
NM_000038.5(APC):c.891_894delACAC (p.His298Leufs) rs1114167567
NM_000038.5(APC):c.896_897delCT (p.Ser299Cysfs) rs397515735
NM_000038.5(APC):c.904C>T (p.Arg302Ter) rs137854568
NM_000038.5(APC):c.933+1G>A rs876660765
NM_000038.5(APC):c.935dupT (p.Glu313Glyfs) rs587781451
NM_000038.5(APC):c.93delC (p.Asn32Ilefs) rs1114167561
NM_000038.5(APC):c.994C>T (p.Arg332Ter) rs775126020
NM_001127510.2(APC):c.258dup (p.Leu87Thrfs) rs1114167546
NM_001127510.2(APC):c.3259_3260del (p.Leu1087Glnfs) rs587782305
NM_001127510.2(APC):c.4682dup (p.Asp1562Glyfs) rs1114167552
NM_001127510.2(APC):c.5822dup (p.Asp1942Argfs) rs1114167549
NM_001127510.2(APC):c.6371_6374del (p.Ser2125Aspfs) rs587782505
NM_001127510.2(APC):c.762dup (p.His255Thrfs) rs1114167608
NM_001127511.2(APC):c.2326dup (p.Ser776Lysfs) rs1114167564
NM_001127511.2(APC):c.3246dup (p.Pro1083Serfs) rs1114167609
NM_001127511.2(APC):c.3940dup (p.Thr1314Asnfs) rs1114167544
NM_001127511.2(APC):c.4683dup (p.Ile1562Tyrfs) rs1114167587

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