ClinVar Miner

List of variants reported as benign for Primary ciliary dyskinesia 10 by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_018139.3(DNAAF2):c.1185G>C (p.Ala395=) rs2985686 0.70870
NM_018139.3(DNAAF2):c.498C>T (p.Ala166=) rs2985685 0.65889
NM_018139.3(DNAAF2):c.1482A>G (p.Thr494=) rs2985687 0.65543
NM_018139.3(DNAAF2):c.186G>C (p.Glu62Asp) rs2985684 0.64935
NM_018139.3(DNAAF2):c.2303A>G (p.Asp768Gly) rs9989177 0.40851

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