ClinVar Miner

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

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Gene type:
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Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_000038.6(APC):c.70C>T (p.Arg24Ter) rs145945630 0.00003
NM_000038.6(APC):c.1213C>T (p.Arg405Ter) rs587779780 0.00001
NM_000038.6(APC):c.646C>T (p.Arg216Ter) rs62619935 0.00001
NM_000038.6(APC):c.1100_1101del (p.Ser367fs) rs387906237
NM_000038.6(APC):c.1234C>T (p.Gln412Ter) rs876660802
NM_000038.6(APC):c.1312+1G>A rs863225310
NM_000038.6(APC):c.1312+3A>G rs863225311
NM_000038.6(APC):c.1312+5G>A rs886039507
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.1548+1G>A rs1114167599
NM_000038.6(APC):c.1624C>T (p.Gln542Ter) rs1580569680
NM_000038.6(APC):c.1674_1680del (p.Asn558fs)
NM_000038.6(APC):c.1690C>T (p.Arg564Ter) rs137854574
NM_000038.6(APC):c.1865dup (p.Tyr622Ter) rs2149842963
NM_000038.6(APC):c.1880dup (p.Asn627fs)
NM_000038.6(APC):c.1972_1975del (p.Glu658fs) rs863225322
NM_000038.6(APC):c.2016_2017del (p.His672fs) rs2149858813
NM_000038.6(APC):c.2096G>A (p.Trp699Ter) rs1060503336
NM_000038.6(APC):c.2396_2397del (p.Tyr799fs)
NM_000038.6(APC):c.2413C>T (p.Arg805Ter) rs587779783
NM_000038.6(APC):c.2805C>A (p.Tyr935Ter) rs137854575
NM_000038.6(APC):c.288T>A (p.Tyr96Ter) rs376213437
NM_000038.6(APC):c.298del (p.Glu100fs) rs1064794224
NM_000038.6(APC):c.301G>T (p.Gly101Ter) rs863225335
NM_000038.6(APC):c.311C>G (p.Ser104Ter) rs74953290
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.3304del (p.Tyr1102fs)
NM_000038.6(APC):c.3340C>T (p.Arg1114Ter) rs121913331
NM_000038.6(APC):c.3349del (p.Ser1117fs)
NM_000038.6(APC):c.3581C>G (p.Ser1194Ter)
NM_000038.6(APC):c.3692_3693insA (p.His1232fs) rs1765495276
NM_000038.6(APC):c.3927_3931del (p.Glu1309fs) rs121913224
NM_000038.6(APC):c.423-2A>C rs879254087
NM_000038.6(APC):c.426_427del (p.Leu143fs) rs587782557
NM_000038.6(APC):c.4612_4613del (p.Glu1538fs) rs387906236
NM_000038.6(APC):c.476dup (p.Tyr159Ter) rs878853451
NM_000038.6(APC):c.477C>G (p.Tyr159Ter) rs863224281
NM_000038.6(APC):c.509_512del (p.Asp170fs) rs387906231
NM_000038.6(APC):c.532-1G>A rs1554072547
NM_000038.6(APC):c.5936_5939del (p.Asn1979fs) rs587781330
NM_000038.6(APC):c.643C>T (p.Gln215Ter) rs137854577
NM_000038.6(APC):c.645+1G>T rs863225370
NM_000038.6(APC):c.667C>T (p.Gln223Ter) rs1554074738
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.7511G>A (p.Trp2504Ter) rs755046558
NM_000038.6(APC):c.7849_7853del (p.Lys2616_Glu2617insTer)
NM_000038.6(APC):c.847C>T (p.Arg283Ter) rs786201856

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