ClinVar Miner

List of variants reported as uncertain significance for Primary ciliary dyskinesia 18 by Baylor Genetics

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_017802.4(DNAAF5):c.1487G>A (p.Arg496His) rs149610399 0.00005
NM_017802.4(DNAAF5):c.802G>A (p.Val268Met) rs370267615 0.00003
NM_017802.4(DNAAF5):c.1679G>A (p.Arg560His) rs760358814
NM_017802.4(DNAAF5):c.218G>C (p.Trp73Ser)
NM_017802.4(DNAAF5):c.788G>A (p.Arg263Gln) rs201059622

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