ClinVar Miner

List of variants reported as likely benign for Familial adenomatous polyposis 1 by ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000038.6(APC):c.1487C>T (p.Thr496Ile) rs1369979539 0.00001
NM_000038.6(APC):c.4906G>T (p.Asp1636Tyr) rs730882128 0.00001
NM_000038.6(APC):c.123A>G (p.Ala41=) rs1561445056
NM_000038.6(APC):c.235A>G (p.Ser79Gly) rs1001856924
NM_000038.6(APC):c.420G>C (p.Glu140Asp) rs202161017
NM_000038.6(APC):c.645+9C>A rs863224286
NM_000038.6(APC):c.8438C>A (p.Thr2813Lys) rs1060503275

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