ClinVar Miner

List of variants reported as likely pathogenic for Primary ciliary dyskinesia 13 by Fulgent Genetics, Fulgent Genetics

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_178452.6(DNAAF1):c.1012del (p.Arg338fs) rs762843285 0.00001
NM_178452.6(DNAAF1):c.1300_1322del (p.Gly434fs) rs745495583

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