ClinVar Miner

List of variants in gene APC reported as likely pathogenic by Department of Molecular Diagnostics, Institute of Oncology Ljubljana

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Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000038.6(APC):c.1408+743_1408+745delinsACG rs2149794988
NM_000038.6(APC):c.1908_1909dup (p.Gly637fs) rs1764733583
NM_000038.6(APC):c.2057_2058del (p.Asn686fs) rs1561574581
NM_000038.6(APC):c.2743del (p.Cys914_Val915insTer) rs1765255282
NM_000038.6(APC):c.281_282del (p.Arg94fs) rs1561464190
NM_000038.6(APC):c.3991A>T (p.Arg1331Ter) rs1765576393
NM_000038.6(APC):c.531+1G>A rs876659973

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