ClinVar Miner

List of variants reported as likely pathogenic for Primary ciliary dyskinesia 3 by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001369.3(DNAH5):c.5503C>T (p.Gln1835Ter)	rs761622153	0.00001
NM_001369.3(DNAH5):c.9720+5G>A	rs763440781	0.00001
NM_001369.3(DNAH5):c.1320+1G>A
NM_001369.3(DNAH5):c.57+1G>A

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