ClinVar Miner

List of variants reported as pathogenic for Primary ciliary dyskinesia 3 by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001369.3(DNAH5):c.4348C>T (p.Gln1450Ter)	rs771663107	0.00001
NM_001369.3(DNAH5):c.8498G>A (p.Arg2833His)	rs753130398	0.00001

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