ClinVar Miner

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

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Gene type:
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Total variants: 70
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HGVS dbSNP gnomAD frequency
NM_000038.6(APC):c.1213C>T (p.Arg405Ter) rs587779780 0.00001
NM_000038.5(APC):c.1409-?_1743+?del
NM_000038.5(APC):c.1744-?_1958+?del (p.(?))
NM_000038.5(APC):c.423-?_531+?del (p.(?))
NM_000038.6(APC):c.1297C>T (p.Gln433Ter) rs863225309
NM_000038.6(APC):c.1312+1G>A rs863225310
NM_000038.6(APC):c.1312+3A>G rs863225311
NM_000038.6(APC):c.1409-1G>T rs863225313
NM_000038.6(APC):c.1500T>A (p.Tyr500Ter) rs387906230
NM_000038.6(APC):c.1658G>A (p.Trp553Ter) rs863225318
NM_000038.6(APC):c.1690C>T (p.Arg564Ter) rs137854574
NM_000038.6(APC):c.1875_1878del (p.Asn627fs) rs878853420
NM_000038.6(APC):c.1879_1882del (p.Asn627fs) rs1060503360
NM_000038.6(APC):c.1959-1G>A rs863225321
NM_000038.6(APC):c.1972_1975del (p.Glu658fs) rs863225322
NM_000038.6(APC):c.2170dup (p.Ala724fs) rs1554083984
NM_000038.6(APC):c.221-1G>A rs863225327
NM_000038.6(APC):c.2325del (p.Asn775fs) rs863225328
NM_000038.6(APC):c.2547_2550del (p.Asp849fs) rs398123118
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.2804dup (p.Tyr935Ter) rs863225332
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.2806_2813dup (p.Lys939fs) rs863225333
NM_000038.6(APC):c.288T>G (p.Tyr96Ter) rs376213437
NM_000038.6(APC):c.3125del (p.Ser1042fs) rs863225338
NM_000038.6(APC):c.3147G>A (p.Trp1049Ter) rs863225340
NM_000038.6(APC):c.3183_3187del (p.Lys1061_Gln1062insTer) rs587779352
NM_000038.6(APC):c.3202_3205del (p.Ser1068fs) rs587779353
NM_000038.6(APC):c.3264del (p.Lys1088fs) rs1554084885
NM_000038.6(APC):c.3286C>T (p.Gln1096Ter) rs587783029
NM_000038.6(APC):c.3473_3474dup (p.Pro1159fs) rs786203020
NM_000038.6(APC):c.3527del (p.Pro1176fs) rs1554085084
NM_000038.6(APC):c.3571C>T (p.Gln1191Ter) rs1114167547
NM_000038.6(APC):c.3577C>T (p.Gln1193Ter) rs1554085128
NM_000038.6(APC):c.3688C>T (p.Gln1230Ter) rs863225344
NM_000038.6(APC):c.3807_3808del (p.Ile1269fs) rs786203760
NM_000038.6(APC):c.3810T>A (p.Cys1270Ter) rs863225347
NM_000038.6(APC):c.3827C>G (p.Ser1276Ter) rs1060503299
NM_000038.6(APC):c.3927_3931del (p.Glu1309fs) rs121913224
NM_000038.6(APC):c.3982C>T (p.Gln1328Ter) rs398123121
NM_000038.6(APC):c.4025dup (p.Leu1342fs) rs863225351
NM_000038.6(APC):c.423-1G>C rs397514031
NM_000038.6(APC):c.426_427del (p.Leu143fs) rs587782557
NM_000038.6(APC):c.4393_4394del (p.Ser1465fs) rs387906234
NM_000038.6(APC):c.450_453del (p.Glu151fs) rs863225355
NM_000038.6(APC):c.453del (p.Glu152fs) rs863224820
NM_000038.6(APC):c.4645C>T (p.Gln1549Ter) rs863225357
NM_000038.6(APC):c.4652_4655del (p.Lys1551fs) rs863225358
NM_000038.6(APC):c.4666dup (p.Thr1556fs) rs587783031
NM_000038.6(APC):c.471G>A (p.Trp157Ter) rs1060503328
NM_000038.6(APC):c.4748_4752del (p.Met1583fs) rs863225360
NM_000038.6(APC):c.476dup (p.Tyr159Ter) rs878853451
NM_000038.6(APC):c.477C>G (p.Tyr159Ter) rs863224281
NM_000038.6(APC):c.487C>T (p.Gln163Ter) rs863225362
NM_000038.6(APC):c.509_512del (p.Asp170fs) rs387906231
NM_000038.6(APC):c.531+1G>C rs876659973
NM_000038.6(APC):c.541C>T (p.Gln181Ter) rs863225366
NM_000038.6(APC):c.5826_5829del (p.Asp1942fs) rs864622228
NM_000038.6(APC):c.5936_5939del (p.Asn1979fs) rs587781330
NM_000038.6(APC):c.637C>T (p.Arg213Ter) rs587781392
NM_000038.6(APC):c.643C>T (p.Gln215Ter) rs137854577
NM_000038.6(APC):c.645+1G>A rs863225370
NM_000038.6(APC):c.694C>T (p.Arg232Ter) rs397515734
NM_000038.6(APC):c.734C>A (p.Ser245Ter) rs1554076133
NM_000038.6(APC):c.832C>T (p.Gln278Ter) rs1554076217
NM_000038.6(APC):c.847C>T (p.Arg283Ter) rs786201856
NM_000038.6(APC):c.904C>T (p.Arg302Ter) rs137854568
NM_000038.6(APC):c.994C>T (p.Arg332Ter) rs775126020

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