ClinVar Miner

List of variants reported as pathogenic for Desmoid disease, hereditary; Familial adenomatous polyposis 1

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NC_000005.9:g.(?_112073556)_(112179823_?)del
NM_000038.6(APC):c.1354_1355dup (p.Leu453fs) rs1554080698
NM_000038.6(APC):c.1409-2del rs2149808371
NM_000038.6(APC):c.4192_4193del (p.Arg1399fs) rs2149908617
NM_000038.6(APC):c.423-1_531+199del
NM_001127511.3(APC):c.166-28468_166-27547del

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