ClinVar Miner

List of variants reported as pathogenic for Primary ciliary dyskinesia 14 by Fulgent Genetics, Fulgent Genetics

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_181426.2(CCDC39):c.1167+1261A>G rs577069249 0.00048
NM_181426.2(CCDC39):c.610-2A>G rs756235547 0.00009
NM_181426.2(CCDC39):c.357+1G>C rs397515392 0.00007
NM_181426.2(CCDC39):c.2596G>T (p.Glu866Ter) rs757823891 0.00004
NM_181426.2(CCDC39):c.1045del (p.Thr349fs) rs747980515
NM_181426.2(CCDC39):c.1714C>T (p.Arg572Ter)
NM_181426.2(CCDC39):c.2040_2043del (p.Cys680fs) rs1174553107
NM_181426.2(CCDC39):c.2357_2359delinsT (p.Ser786fs) rs587778821
NM_181426.2(CCDC39):c.526_527del (p.Leu176fs) rs780175755
NM_181426.2(CCDC39):c.830_831del (p.Thr277fs) rs773801386

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