ClinVar Miner

List of variants in gene APC reported as pathogenic by Mendelics

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000038.5(APC):c.792del (p.Gly265Glufs) rs863224459
NM_000038.6(APC):c.1467_1479del (p.Asn490fs) rs1580565026
NM_000038.6(APC):c.1798del (p.Thr600fs) rs2149841625
NM_000038.6(APC):c.1886T>A (p.Leu629Ter) rs1019221239
NM_000038.6(APC):c.1895_1958+28del rs1561569140
NM_000038.6(APC):c.2334_2337del (p.Asn778fs) rs1580620655
NM_000038.6(APC):c.3183_3187del (p.Lys1061_Gln1062insTer) rs587779352
NM_000038.6(APC):c.3374dup (p.Ser1126fs) rs1561584336
NM_000038.6(APC):c.412G>T (p.Glu138Ter) rs1756477033
NM_000038.6(APC):c.4203dup (p.Ala1402fs) rs1580645285
NM_000038.6(APC):c.4434_4437del (p.Arg1478fs) rs2149914657
NM_000038.6(APC):c.4501del (p.Ser1501fs) rs1580648975
NM_000038.6(APC):c.833_834insT (p.Gln278fs) rs2149712600
NM_000038.6(APC):c.904C>T (p.Arg302Ter) rs137854568

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