ClinVar Miner

List of variants in gene APC studied for Desmoid disease, hereditary

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000038.6(APC):c.2719G>C (p.Gly907Arg) rs771458366 0.00006
NM_000038.6(APC):c.3689A>G (p.Gln1230Arg) rs764706774 0.00002
APC, 2-BP INS, CODON 1924
APC, 4-BP DEL, 7929TCTA
NM_000038.5(APC):c.4575_4576insAlu1
NM_000038.6(APC):c.1820G>C (p.Cys607Ser) rs1554083153
NM_000038.6(APC):c.2413C>T (p.Arg805Ter) rs587779783
NM_000038.6(APC):c.245T>C (p.Phe82Ser) rs1179254201
NM_000038.6(APC):c.3692_3693insA (p.His1232fs) rs1765495276
NM_000038.6(APC):c.5826_5829del (p.Asp1942fs) rs864622228
NM_000038.6(APC):c.7403C>T (p.Ser2468Leu)

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