ClinVar Miner

List of variants in gene APC reported as pathogenic for Colorectal cancer

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_000038.6(APC):c.1383_1390delinsATGAATGA (p.His462_His464delinsTer) rs2149792567
NM_000038.6(APC):c.1720G>T (p.Glu574Ter) rs1764024563
NM_000038.6(APC):c.1798del (p.Thr600fs) rs2149841625
NM_000038.6(APC):c.2798_2804del (p.Asn933fs) rs2149877627
NM_000038.6(APC):c.3753_3754del (p.Ser1252fs) rs1765511794
NM_000038.6(APC):c.3927_3931del (p.Glu1309fs) rs121913224
NM_000038.6(APC):c.3956del (p.Pro1319fs) rs1057517558
NM_000038.6(APC):c.412G>T (p.Glu138Ter) rs1756477033
NM_000038.6(APC):c.4434_4437del (p.Arg1478fs) rs2149914657
NM_000038.6(APC):c.5490_5493del (p.Asn1830fs) rs730881273
NM_000038.6(APC):c.6907G>T (p.Gly2303Ter) rs544549596
NM_000038.6(APC):c.833_834insT (p.Gln278fs) rs2149712600
NM_000038.6(APC):c.847C>T (p.Arg283Ter) rs786201856

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