ClinVar Miner

List of variants studied for Primary ciliary dyskinesia 14 by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_181426.2(CCDC39):c.1167+1261A>G rs577069249 0.00048
NM_181426.2(CCDC39):c.1246G>T (p.Glu416Ter)
NM_181426.2(CCDC39):c.830_831del (p.Thr277fs) rs773801386

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