ClinVar Miner

List of variants studied for Primary ciliary dyskinesia 13 by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_178452.6(DNAAF1):c.1794C>G (p.Leu598=) rs2288019 0.51384
NM_178452.6(DNAAF1):c.1296G>C (p.Glu432Asp) rs9972733 0.07717

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