ClinVar Miner

List of variants in gene APC reported as pathogenic by Counsyl

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000038.6(APC):c.3149del (p.Ala1050fs) rs730882135 0.00001
NM_000038.6(APC):c.1495C>T (p.Arg499Ter) rs137854580
NM_000038.6(APC):c.2309C>G (p.Ser770Ter) rs1060503310
NM_000038.6(APC):c.3183_3187del (p.Lys1061_Gln1062insTer) rs587779352
NM_000038.6(APC):c.3523C>T (p.Gln1175Ter) rs1554085081
NM_000038.6(APC):c.3927_3931del (p.Glu1309fs) rs121913224
NM_000038.6(APC):c.3956del (p.Pro1319fs) rs1057517558
NM_000038.6(APC):c.4012C>T (p.Gln1338Ter) rs121913327

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