ClinVar Miner

List of variants reported as pathogenic for Familial adenomatous polyposis 1 by Department of Molecular Diagnostics, Institute of Oncology Ljubljana

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_000038.6(APC):c.1490dup (p.Arg498fs) rs1763782834
NM_000038.6(APC):c.1744G>T (p.Glu582Ter) rs1764693751
NM_000038.6(APC):c.2093T>A (p.Leu698Ter) rs137854582
NM_000038.6(APC):c.2510del (p.Ser836_Ser837insTer) rs1765200218
NM_000038.6(APC):c.3183_3187del (p.Lys1061_Gln1062insTer) rs587779352
NM_000038.6(APC):c.3927_3931del (p.Glu1309fs) rs121913224
NM_000038.6(APC):c.4549C>T (p.Gln1517Ter) rs1114167596
NM_000038.6(APC):c.4901del (p.Pro1634fs) rs1057518901
NM_000038.6(APC):c.994C>T (p.Arg332Ter) rs775126020

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