ClinVar Miner

List of variants in gene DNAH5 reported as pathogenic by Genomics England Pilot Project, Genomics England

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001369.3(DNAH5):c.3484C>T (p.Gln1162Ter)	rs760081822	0.00001
NM_001369.3(DNAH5):c.13458dup (p.Asn4487Ter)	rs775696136

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