ClinVar Miner

List of variants reported as pathogenic for Primary ciliary dyskinesia by Center of Genomic medicine, Geneva, University Hospital of Geneva

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001256715.2(DNAAF3):c.1271dup (p.Phe426fs) rs1349668884
NM_001369.3(DNAH5):c.2283_2284del (p.Arg761fs) rs1462578042

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