ClinVar Miner

List of variants in gene APC reported as likely pathogenic by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000038.6(APC):c.1409-2A>G rs1064794163
NM_000038.6(APC):c.4255del (p.Ser1419fs) rs727504420
NM_000038.6(APC):c.5585dup (p.Leu1862fs) rs1554086823
NM_000038.6(APC):c.5718del (p.Ala1907fs) rs1554086923
NM_000038.6(APC):c.6542_6545del (p.Ile2181fs) rs1554087515
NM_000038.6(APC):c.7715C>G (p.Ser2572Ter) rs876659280
NM_001127510.3(APC):c.1917dup (p.Arg640fs) rs397515732

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