ClinVar Miner

List of variants in gene APC reported as likely pathogenic by Mayo Clinic Genetic Testing Laboratories,Mayo Clinic

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Gene type:
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Total variants: 58
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HGVS dbSNP
NM_000038.5(APC):c.1045C>T (p.Gln349Ter) rs863225307
NM_000038.5(APC):c.1229dupT (p.Leu410Phefs) rs863225308
NM_000038.5(APC):c.135+2T>C rs1554067164
NM_000038.5(APC):c.1433T>G (p.Leu478Ter) rs863225314
NM_000038.5(APC):c.1525_1527delACT (p.Thr509del) rs863225315
NM_000038.5(APC):c.1549-1G>A rs863225316
NM_000038.5(APC):c.1609delA (p.Ser537Valfs) rs863225317
NM_000038.5(APC):c.1626+1G>A rs1554081934
NM_000038.5(APC):c.1866C>A (p.Tyr622Ter) rs876658355
NM_000038.5(APC):c.1867C>T (p.Arg623Trp) rs730881238
NM_000038.5(APC):c.1892_1904delTTATTGAAAGTGGinsAAT (p.Ile631Lysfs) rs863225319
NM_000038.5(APC):c.1997_1999delTACinsA (p.Leu666Terfs) rs863225323
NM_000038.5(APC):c.207delA (p.Glu70Serfs) rs863225325
NM_000038.5(APC):c.2183delA (p.Asn728Ilefs) rs863225326
NM_000038.5(APC):c.220+2T>A rs587781809
NM_000038.5(APC):c.2624dupA (p.Arg876Alafs) rs863225330
NM_000038.5(APC):c.2759delA (p.Asn920Metfs) rs863225331
NM_000038.5(APC):c.2886delT (p.Asp962Glufs) rs863225334
NM_000038.5(APC):c.2926dup (p.Arg976Lysfs) rs1554084587
NM_000038.5(APC):c.301G>T (p.Gly101Ter) rs863225335
NM_000038.5(APC):c.3054_3063delTGGAGAACTA (p.Asp1018Glufs) rs863225336
NM_000038.5(APC):c.3079dupT (p.Tyr1027Leufs) rs863225337
NM_000038.5(APC):c.3135_3136delGA (p.Asn1046Terfs) rs863225339
NM_000038.5(APC):c.3139G>T (p.Glu1047Ter) rs568149455
NM_000038.5(APC):c.3298_3301delTCTC (p.Ser1100Hisfs) rs863225341
NM_000038.5(APC):c.3304_3307delTACA (p.Tyr1102Glyfs) rs863225342
NM_000038.5(APC):c.3535dupT (p.Tyr1179Leufs) rs863225343
NM_000038.5(APC):c.3602C>A (p.Ser1201Ter) rs730881247
NM_000038.5(APC):c.3785dupA (p.Tyr1262Terfs) rs863225345
NM_000038.5(APC):c.3791dupT (p.Glu1265Argfs) rs863225346
NM_000038.5(APC):c.3815C>G (p.Ser1272Ter) rs863225348
NM_000038.5(APC):c.3939_3940dupTA (p.Arg1314Ilefs) rs863225350
NM_000038.5(APC):c.4075A>T (p.Lys1359Ter) rs863225352
NM_000038.5(APC):c.4166delC (p.Ser1389Leufs) rs863225353
NM_000038.5(APC):c.4495G>T (p.Gly1499Ter) rs756912930
NM_000038.5(APC):c.4616C>A (p.Ser1539Ter) rs1554086008
NM_000038.5(APC):c.4634C>G (p.Ser1545Ter) rs863225356
NM_000038.5(APC):c.4647delA (p.Glu1550Argfs) rs879254283
NM_000038.5(APC):c.4733_4734delGT (p.Cys1578Tyrfs) rs863225359
NM_000038.5(APC):c.475dupT (p.Tyr159Leufs) rs863225361
NM_000038.5(APC):c.4793_4800delCTTCAAAAinsTGG (p.Ala1598Valfs) rs886039641
NM_000038.5(APC):c.5145delC (p.Asp1715Glufs) rs863225363
NM_000038.5(APC):c.524_531+4delCTGAAAATGTAA rs863225364
NM_000038.5(APC):c.531+2T>A rs863225365
NM_000038.5(APC):c.531+2T>C rs863225365
NM_000038.5(APC):c.5804dupA (p.Ser1936Valfs) rs863225367
NM_000038.5(APC):c.5936delA (p.Asn1979Thrfs) rs863225368
NM_000038.5(APC):c.5996delC (p.Pro1999Glnfs) rs863225369
NM_000038.5(APC):c.677delA (p.Lys226Argfs) rs863225371
NM_000038.5(APC):c.7511G>A (p.Trp2504Ter) rs755046558
NM_000038.5(APC):c.800delG (p.Gly267Glufs) rs863225372
NM_000038.5(APC):c.935dupT (p.Glu313Glyfs) rs587781451
NM_001127510.2(APC):c.1494del (p.Arg498Serfs) rs1554081719
NM_001127510.2(APC):c.2343del (p.Lys782Argfs) rs1554084080
NM_001127510.2(APC):c.2825del (p.Asn942Ilefs) rs1554084511
NM_001127510.2(APC):c.3578del (p.Gln1193Argfs) rs1554085131
NM_001127510.2(APC):c.5005_5008del (p.Ala1670Leufs) rs1554086363
NM_001127511.2(APC):c.7216_7219del (p.Ser2406Valfs) rs1469278346

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