ClinVar Miner

List of variants in gene APC reported as likely pathogenic by Counsyl

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Gene type:
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Total variants: 20
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HGVS dbSNP
NM_000038.6(APC):c.1312+3A>G rs863225311
NM_000038.6(APC):c.1530dup (p.Gly511fs) rs1554081749
NM_000038.6(APC):c.1548+2T>C rs1057517561
NM_000038.6(APC):c.1705del (p.Ser568_Val569insTer) rs1554082135
NM_000038.6(APC):c.1917dup (p.Arg640fs) rs397515732
NM_000038.6(APC):c.2804dup (p.Tyr935Ter) rs863225332
NM_000038.6(APC):c.3013_3019del (p.Ala1005fs) rs1057517553
NM_000038.6(APC):c.3785dup (p.Tyr1262Ter) rs863225345
NM_000038.6(APC):c.388del (p.Ser130fs) rs1554069828
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155
NM_000038.6(APC):c.422+2T>C rs879254169
NM_000038.6(APC):c.4617_4618AG[1] (p.Glu1540fs) rs1554086015
NM_000038.6(APC):c.476dup (p.Tyr159Ter) rs878853451
NM_000038.6(APC):c.531+1G>C rs876659973
NM_000038.6(APC):c.5659_5663del (p.Asn1887fs) rs1554086854
NM_000038.6(APC):c.5669C>G (p.Ser1890Ter) rs1554086862
NM_000038.6(APC):c.5952_5955del (p.Glu1985fs) rs1057517544
NM_000038.6(APC):c.6371T>A (p.Leu2124Ter) rs1057517568
NM_000038.6(APC):c.70C>T (p.Arg24Ter) rs145945630
NM_000038.6(APC):c.933+2T>C rs1057517559

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