ClinVar Miner

List of variants studied for Primary ciliary dyskinesia 14 by Johns Hopkins Genomics, Johns Hopkins University

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_181426.2(CCDC39):c.1073C>T (p.Thr358Ile) rs183413880 0.00329
NM_181426.2(CCDC39):c.2507_2508del (p.Lys836fs) rs781526810

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