ClinVar Miner

List of variants reported as pathogenic for Desmoid disease, hereditary

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Total variants: 6
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HGVS dbSNP gnomAD frequency
APC, 2-BP INS, CODON 1924
APC, 4-BP DEL, 7929TCTA
NM_000038.5(APC):c.4575_4576insAlu1
NM_000038.6(APC):c.2413C>T (p.Arg805Ter) rs587779783
NM_000038.6(APC):c.3692_3693insA (p.His1232fs) rs1765495276
NM_000038.6(APC):c.5826_5829del (p.Asp1942fs) rs864622228

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