ClinVar Miner

List of variants in gene APC reported as pathogenic for Desmoid disease, hereditary; Familial adenomatous polyposis 1; Hepatocellular carcinoma; Gastric cancer; Colorectal cancer; Gastric adenocarcinoma and proximal polyposis of the stomach

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000038.6(APC):c.3149del (p.Ala1050fs) rs730882135 0.00001
NM_000038.6(APC):c.646C>T (p.Arg216Ter) rs62619935 0.00001
NM_000038.6(APC):c.1380del (p.Glu461fs)
NM_000038.6(APC):c.1779G>A (p.Trp593Ter) rs1554083132
NM_000038.6(APC):c.3901dup (p.Thr1301fs) rs1554085382
NM_000038.6(APC):c.3927_3931del (p.Glu1309fs) rs121913224
NM_000038.6(APC):c.3982C>T (p.Gln1328Ter) rs398123121
NM_000038.6(APC):c.4612_4613del (p.Glu1538fs) rs387906236
NM_000038.6(APC):c.4831C>T (p.Gln1611Ter) rs774847203
NM_000038.6(APC):c.643C>T (p.Gln215Ter) rs137854577
NM_000038.6(APC):c.74_75del (p.Gln25fs) rs1554067124
NM_000038.6(APC):c.835-17A>G rs1580511131
NM_000038.6(APC):c.847C>T (p.Arg283Ter) rs786201856
NM_000038.6(APC):c.994C>T (p.Arg332Ter) rs775126020

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