ClinVar Miner

List of variants in gene APC reported as pathogenic by Color Diagnostics, LLC DBA Color Health

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Gene type:
ClinVar version:
Total variants: 77
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HGVS dbSNP gnomAD frequency
NM_000038.6(APC):c.1213C>T (p.Arg405Ter) rs587779780 0.00001
NM_000038.6(APC):c.1032T>A (p.Cys344Ter) rs1762819450
NM_000038.6(APC):c.1072C>T (p.Gln358Ter) rs863224455
NM_000038.6(APC):c.1239dup (p.Arg414fs) rs879254088
NM_000038.6(APC):c.1312+5G>A rs886039507
NM_000038.6(APC):c.1370C>A (p.Ser457Ter) rs1060503333
NM_000038.6(APC):c.1394del (p.Ala465fs) rs1763190657
NM_000038.6(APC):c.145A>T (p.Lys49Ter) rs1581160030
NM_000038.6(APC):c.1495C>T (p.Arg499Ter) rs137854580
NM_000038.6(APC):c.1500T>A (p.Tyr500Ter) rs387906230
NM_000038.6(APC):c.154C>T (p.Gln52Ter) rs786202584
NM_000038.6(APC):c.1620_1621insGA (p.Gln541fs) rs1131691555
NM_000038.6(APC):c.1660C>T (p.Arg554Ter) rs137854573
NM_000038.6(APC):c.1690C>T (p.Arg564Ter) rs137854574
NM_000038.6(APC):c.1744-2A>G rs587783035
NM_000038.6(APC):c.1972_1975del (p.Glu658fs) rs863225322
NM_000038.6(APC):c.203T>A (p.Leu68Ter) rs1554069549
NM_000038.6(APC):c.2107dup (p.Ala703fs) rs587783030
NM_000038.6(APC):c.221-2A>G rs786201291
NM_000038.6(APC):c.2373_2374del (p.His791fs)
NM_000038.6(APC):c.2388T>G (p.Tyr796Ter) rs1554084124
NM_000038.6(APC):c.2390dup (p.Gly797_Asp798insTer) rs1561576755
NM_000038.6(APC):c.2547_2550del (p.Asp849fs) rs398123118
NM_000038.6(APC):c.2657del (p.Gln886fs) rs1765237683
NM_000038.6(APC):c.2677G>T (p.Glu893Ter) rs199740875
NM_000038.6(APC):c.2692_2693insT (p.His898fs) rs1561579040
NM_000038.6(APC):c.2711_2712del (p.Arg904fs) rs1554084403
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.2840_2841del (p.Cys947fs) rs1554084531
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.3203C>G (p.Ser1068Ter) rs1554084848
NM_000038.6(APC):c.3211C>T (p.Gln1071Ter) rs876659539
NM_000038.6(APC):c.3286C>T (p.Gln1096Ter) rs587783029
NM_000038.6(APC):c.3298dup (p.Ser1100fs) rs2149888975
NM_000038.6(APC):c.3340C>T (p.Arg1114Ter) rs121913331
NM_000038.6(APC):c.3429T>A (p.Tyr1143Ter)
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.3730C>T (p.Gln1244Ter) rs79122263
NM_000038.6(APC):c.3815C>G (p.Ser1272Ter) rs863225348
NM_000038.6(APC):c.3880C>T (p.Gln1294Ter) rs1554085373
NM_000038.6(APC):c.3916G>T (p.Glu1306Ter) rs121913462
NM_000038.6(APC):c.3927_3931del (p.Glu1309fs) rs121913224
NM_000038.6(APC):c.423-1G>A rs397514031
NM_000038.6(APC):c.426_427del (p.Leu143fs) rs587782557
NM_000038.6(APC):c.4367_4368del (p.Lys1456fs) rs1765664365
NM_000038.6(APC):c.4391_4394del (p.Glu1464fs) rs387906234
NM_000038.6(APC):c.4634C>A (p.Ser1545Ter) rs863225356
NM_000038.6(APC):c.4638_4642del (p.Asn1546fs) rs1554086030
NM_000038.6(APC):c.4666dup (p.Thr1556fs) rs587783031
NM_000038.6(APC):c.4733_4734del (p.Cys1578fs) rs863225359
NM_000038.6(APC):c.475dup (p.Tyr159fs) rs863225361
NM_000038.6(APC):c.4782_4785del (p.Ala1595fs) rs1554086196
NM_000038.6(APC):c.479del (p.Ala160fs)
NM_000038.6(APC):c.4938del (p.Thr1647fs)
NM_000038.6(APC):c.4970dup (p.Ser1658fs) rs1554086340
NM_000038.6(APC):c.509_512del (p.Asp170fs) rs387906231
NM_000038.6(APC):c.546del (p.Asp183fs)
NM_000038.6(APC):c.5490_5493del (p.Asn1830fs) rs730881273
NM_000038.6(APC):c.574G>T (p.Glu192Ter)
NM_000038.6(APC):c.5813_5814del (p.Lys1938fs) rs1766053215
NM_000038.6(APC):c.6676C>T (p.Arg2226Ter) rs1064794626
NM_000038.6(APC):c.6709C>T (p.Arg2237Ter) rs768922431
NM_000038.6(APC):c.694C>T (p.Arg232Ter) rs397515734
NM_000038.6(APC):c.7057dup (p.Thr2353fs)
NM_000038.6(APC):c.7226del (p.Gly2409fs) rs1766419869
NM_000038.6(APC):c.7489dup (p.Ser2497fs) rs1409414498
NM_000038.6(APC):c.7513C>T (p.Arg2505Ter) rs79630786
NM_000038.6(APC):c.7709C>G (p.Ser2570Ter) rs1561617778
NM_000038.6(APC):c.7772_7773del (p.His2591fs) rs2149993527
NM_000038.6(APC):c.904C>T (p.Arg302Ter) rs137854568
NM_000038.6(APC):c.935dup (p.Glu313fs) rs587781451
NM_000038.6(APC):c.937_938del (p.Glu313fs) rs387906239
NM_000038.6(APC):c.961dup (p.Met321fs)
NM_000038.6(APC):c.994C>T (p.Arg332Ter) rs775126020

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