ClinVar Miner

List of variants in gene APC reported as pathogenic 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.1311_1312+1del rs397514030
NM_000038.6(APC):c.1900dup (p.Ser634fs)
NM_000038.6(APC):c.3927_3931del (p.Glu1309fs) rs121913224
NM_000038.6(APC):c.4778del (p.Lys1593fs) rs1554086185
NM_000038.6(APC):c.509_512del (p.Asp170fs) rs387906231
NM_000038.6(APC):c.532-8G>A rs1060503323
NM_000038.6(APC):c.847C>T (p.Arg283Ter) rs786201856

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