ClinVar Miner

List of variants reported as pathogenic for Primary ciliary dyskinesia 14 by Revvity Omics, Revvity

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Total variants: 5
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HGVS dbSNP gnomAD frequency
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.1999-2A>T rs1399517463 0.00001
NM_181426.2(CCDC39):c.1456dup (p.Glu486fs) rs1164781857
NM_181426.2(CCDC39):c.2061dup (p.Ala688fs) rs2108406611

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