ClinVar Miner

List of variants 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 by Fulgent Genetics, Fulgent Genetics

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000038.6(APC):c.3901dup (p.Thr1301fs) rs1554085382
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.994C>T (p.Arg332Ter) rs775126020

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