ClinVar Miner

List of variants in gene APC studied for connective tissue neoplasm

Included ClinVar conditions (122):
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Gene type:
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Total variants: 47
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HGVS dbSNP
APC, 1-BP DEL, 3720T
APC, 2-BP INS, CODON 1924
APC, 4-BP DEL, 7929TCTA
NM_000038.5(APC):c.4575_4576insAlu1
NM_000038.6(APC):c.-2_136-2903del
NM_000038.6(APC):c.1312+3A>G rs863225311
NM_000038.6(APC):c.1458T>C (p.Tyr486=) rs2229992
NM_000038.6(APC):c.1553C>T (p.Thr518Met) rs371453363
NM_000038.6(APC):c.1606G>A (p.Glu536Lys) rs138098808
NM_000038.6(APC):c.1660C>T (p.Arg554Ter) rs137854573
NM_000038.6(APC):c.1762G>A (p.Val588Ile) rs372416031
NM_000038.6(APC):c.2413C>T (p.Arg805Ter) rs587779783
NM_000038.6(APC):c.245T>C (p.Phe82Ser) rs1179254201
NM_000038.6(APC):c.2474A>G (p.Tyr825Cys) rs186641437
NM_000038.6(APC):c.2805C>A (p.Tyr935Ter) rs137854575
NM_000038.6(APC):c.3183_3187del (p.Lys1061_Gln1062insTer) rs587779352
NM_000038.6(APC):c.319T>G (p.Ser107Ala) rs1485866385
NM_000038.6(APC):c.3689A>G (p.Gln1230Arg) rs764706774
NM_000038.6(APC):c.3692_3693insA (p.His1232fs)
NM_000038.6(APC):c.3867T>A (p.Cys1289Ter) rs1554085355
NM_000038.6(APC):c.4372C>T (p.Pro1458Ser) rs143796828
NM_000038.6(APC):c.4473dup (p.Ala1492fs) rs398123122
NM_000038.6(APC):c.4847A>T (p.Lys1616Ile) rs1554086241
NM_000038.6(APC):c.5105G>A (p.Gly1702Glu) rs769273526
NM_000038.6(APC):c.5363G>A (p.Arg1788His) rs201472075
NM_000038.6(APC):c.5801C>T (p.Pro1934Leu) rs587780600
NM_000038.6(APC):c.5826_5829del (p.Asp1942fs) rs864622228
NM_000038.6(APC):c.607C>G (p.Gln203Glu) rs141576417
NM_000038.6(APC):c.6257C>G (p.Pro2086Arg) rs786202975
NM_000038.6(APC):c.637C>T (p.Arg213Ter) rs587781392
NM_000038.6(APC):c.646C>T (p.Arg216Ter) rs62619935
NM_000038.6(APC):c.6639G>A (p.Met2213Ile) rs35540155
NM_000038.6(APC):c.6724A>G (p.Ser2242Gly) rs201375478
NM_000038.6(APC):c.6736G>A (p.Val2246Ile) rs1055180096
NM_000038.6(APC):c.694C>T (p.Arg232Ter) rs397515734
NM_000038.6(APC):c.7036C>T (p.Pro2346Ser) rs200756935
NM_000038.6(APC):c.70C>T (p.Arg24Ter) rs145945630
NM_000038.6(APC):c.7166G>A (p.Ser2389Asn) rs779287035
NM_000038.6(APC):c.791A>G (p.Gln264Arg) rs369345931
NM_000038.6(APC):c.8276G>A (p.Arg2759His) rs538289470
NM_000038.6(APC):c.8389A>G (p.Ser2797Gly) rs147287751
NM_000038.6(APC):c.8462A>G (p.Asp2821Gly) rs780049836
NM_000038.6(APC):c.847C>T (p.Arg283Ter) rs786201856
NM_000038.6(APC):c.933+1G>A rs876660765
NM_001127511.3(APC):c.-128G>C rs543098847
NM_001127511.3(APC):c.-204A>G rs554351451
NM_001127511.3(APC):c.1A>G (p.Met1Val) rs189807660

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