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: 15
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HGVS dbSNP
NM_000038.6(APC):c.1213C>T (p.Arg405Ter) rs587779780
NM_000038.6(APC):c.1370C>G (p.Ser457Ter) rs1060503333
NM_000038.6(APC):c.1866C>A (p.Tyr622Ter) rs876658355
NM_000038.6(APC):c.2100dup (p.Met701fs) rs1561574860
NM_000038.6(APC):c.2485del (p.Thr829fs) rs1561577476
NM_000038.6(APC):c.2589C>A (p.Tyr863Ter) rs1561578229
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.426_427del (p.Leu143fs) rs587782557
NM_000038.6(APC):c.4638_4639del (p.Asn1546fs) rs1561594148
NM_000038.6(APC):c.532-1G>A rs1554072547
NM_000038.6(APC):c.5971_5972insGCAGCATCTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGG (p.Glu1991delinsGlySerIleTer) rs1561604164
NM_000038.6(APC):c.643C>T (p.Gln215Ter) rs137854577
NM_000038.6(APC):c.70C>T (p.Arg24Ter) rs145945630
NM_000038.6(APC):c.834+1G>A rs1554076225

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