ClinVar Miner

List of variants in gene combination CCDC39, TTC14 reported as benign for Primary ciliary dyskinesia

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_181426.2(CCDC39):c.2397G>A (p.Val799=) rs7612917 0.19015
NM_181426.2(CCDC39):c.2301G>A (p.Leu767=) rs11914833 0.09202
NM_181426.2(CCDC39):c.2278A>G (p.Thr760Ala) rs79386936 0.01017
NM_181426.2(CCDC39):c.2660dup (p.Ser888fs) rs200353947 0.00823
NM_181426.2(CCDC39):c.2669+6C>T rs57859179 0.00616
NM_181426.2(CCDC39):c.2432G>A (p.Arg811His) rs61733583 0.00485
NM_181426.2(CCDC39):c.2299T>C (p.Leu767=) rs200913298 0.00238
NM_181426.2(CCDC39):c.2409T>C (p.Cys803=) rs201601768 0.00111
NM_181426.2(CCDC39):c.2266-7del
NM_181426.2(CCDC39):c.2266-7dup rs1287389353
NM_181426.2(CCDC39):c.2408G>A (p.Cys803Tyr) rs561458801

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