ClinVar Miner

List of variants in gene APC reported as pathogenic by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 26
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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.1370C>G (p.Ser457Ter) rs1060503333
NM_000038.6(APC):c.1825del (p.Ala608_Val609insTer) rs2149842095
NM_000038.6(APC):c.1866C>A (p.Tyr622Ter) rs876658355
NM_000038.6(APC):c.2162del (p.Gly721fs) rs2149862015
NM_000038.6(APC):c.2485del (p.Thr829fs) rs1561577476
NM_000038.6(APC):c.2547_2550del (p.Asp849fs) rs398123118
NM_000038.6(APC):c.2589C>A (p.Tyr863Ter) rs1561578229
NM_000038.6(APC):c.2626C>T (p.Arg876Ter) rs121913333
NM_000038.6(APC):c.311C>G (p.Ser104Ter) rs74953290
NM_000038.6(APC):c.3146G>A (p.Trp1049Ter) rs876658667
NM_000038.6(APC):c.3196del (p.Arg1066fs) rs878853436
NM_000038.6(APC):c.3523C>T (p.Gln1175Ter) rs1554085081
NM_000038.6(APC):c.3786T>G (p.Tyr1262Ter) rs147411334
NM_000038.6(APC):c.3817A>T (p.Arg1273Ter) rs2149899615
NM_000038.6(APC):c.426_427del (p.Leu143fs) rs587782557
NM_000038.6(APC):c.4638_4639del (p.Asn1546fs) rs1561594148
NM_000038.6(APC):c.476_488del (p.Tyr158_Tyr159insTer) rs2149615315
NM_000038.6(APC):c.509_512del (p.Asp170fs) rs387906231
NM_000038.6(APC):c.532-1G>A rs1554072547
NM_000038.6(APC):c.5572C>T (p.Arg1858Ter) rs1270783041
NM_000038.6(APC):c.5826_5829del (p.Asp1942fs) rs864622228
NM_000038.6(APC):c.643C>T (p.Gln215Ter) rs137854577
NM_000038.6(APC):c.834+1G>A rs1554076225
NM_000038.6(APC):c.847C>T (p.Arg283Ter) rs786201856

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