List of variants reported as pathogenic for Primary ciliary dyskinesia by Centre for Genomic and Experimental Medicine, University of Edinburgh

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001369.3(DNAH5):c.10815del (p.Pro3606fs)	rs397515540	0.00019
NM_130810.4(DNAAF4):c.856G>T (p.Glu286Ter)	rs770136467	0.00002
NC_000005.10:g.13830078_13842859del
NM_001277115.2(DNAH11):c.10221_10222del (p.Cys3408fs)	rs886042735
NM_001369.3(DNAH5):c.13458dup (p.Asn4487Ter)	rs775696136
NM_001369.3(DNAH5):c.3949C>T (p.Gln1317Ter)	rs1769508571
NM_001369.3(DNAH5):c.5281C>T (p.Arg1761Ter)	rs148891849
NM_130810.3(DNAAF4):c.1048-149_*1048del
NM_130810.4(DNAAF4):c.784-1037_894-2012del

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