ClinVar Miner

List of variants studied for Primary ciliary dyskinesia 3 by Prenatal Genetic Diagnosis Laboratory, The Chinese University of Hong Kong

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001369.3(DNAH5):c.5563dup (p.Ile1855fs) rs752925056
NM_001369.3(DNAH5):c.6442C>T (p.Gln2148Ter) rs777303718

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