ClinVar Miner

List of variants reported as likely pathogenic for Primary ciliary dyskinesia 5 by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001270974.2(HYDIN):c.11712del (p.Gln3905fs)	rs11337008
NM_001270974.2(HYDIN):c.13402-2A>G	rs1270003368
NM_001270974.2(HYDIN):c.6358C>T (p.Arg2120Ter)	rs1597399325

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