ClinVar Miner

List of variants in gene CCDC39 reported as likely benign for Primary ciliary dyskinesia 14

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_181426.2(CCDC39):c.604G>A (p.Ala202Thr) rs61733578 0.01102
NM_181426.2(CCDC39):c.2159-16A>C rs147028259 0.00812
NM_181426.2(CCDC39):c.233G>A (p.Arg78His) rs115952495 0.00435
NM_181426.2(CCDC39):c.1073C>T (p.Thr358Ile) rs183413880 0.00329
NM_181426.2(CCDC39):c.1433A>G (p.Gln478Arg) rs115545935 0.00312
NM_181426.2(CCDC39):c.1008G>A (p.Lys336=) rs79329972 0.00226
NM_181426.2(CCDC39):c.1363-13del rs374074877

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