ClinVar Miner

List of variants in gene combination DNAH11, LOC126859962 reported as pathogenic for Primary ciliary dyskinesia

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001277115.2(DNAH11):c.13059CCT[2] (p.Leu4356del)
NM_001277115.2(DNAH11):c.13069C>T (p.Arg4357Ter) rs775720394
NM_001277115.2(DNAH11):c.13075C>T (p.Arg4359Ter) rs774903187

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