ClinVar Miner

List of variants in gene APC reported as pathogenic by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

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Total variants: 10
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HGVS dbSNP
NC_000005.9:g.(?_112090588)_(112179768_?)del
NM_000038.6(APC):c.1660C>T (p.Arg554Ter) rs137854573
NM_000038.6(APC):c.2805C>A (p.Tyr935Ter) rs137854575
NM_000038.6(APC):c.3162del (p.His1054fs) rs397515733
NM_000038.6(APC):c.3922_3926AAAGA[1] (p.Glu1309fs) rs121913224
NM_000038.6(APC):c.5936_5939del (p.Asn1979fs) rs587781330
NM_000038.6(APC):c.637C>T (p.Arg213Ter) rs587781392
NM_000038.6(APC):c.694C>T (p.Arg232Ter) rs397515734
NM_000038.6(APC):c.70C>T (p.Arg24Ter) rs145945630
NM_000038.6(APC):c.894_895CT[1] (p.Ser299fs) rs397515735

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