List of variants in gene DNAH5 reported as likely pathogenic by Yale Center for Mendelian Genomics, Yale University

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: 34

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001369.3(DNAH5):c.10815del (p.Pro3606fs)	rs397515540	0.00021
NM_001369.3(DNAH5):c.7502G>C (p.Arg2501Pro)	rs78853309	0.00011
NM_001369.3(DNAH5):c.13486C>T (p.Arg4496Ter)	rs200901816	0.00006
NM_001369.3(DNAH5):c.6249G>A (p.Met2083Ile)	rs753614861	0.00006
NM_001369.3(DNAH5):c.3905del (p.Leu1302fs)	rs754698253	0.00003
NM_001369.3(DNAH5):c.5710-2A>G	rs548521732	0.00003
NM_001369.3(DNAH5):c.12617G>A (p.Trp4206Ter)	rs372118787	0.00002
NM_001369.3(DNAH5):c.1432C>T (p.Arg478Ter)	rs747900131	0.00002
NM_001369.3(DNAH5):c.12107G>A (p.Trp4036Ter)	rs760104757	0.00001
NM_001369.3(DNAH5):c.4348C>T (p.Gln1450Ter)	rs771663107	0.00001
NM_001369.3(DNAH5):c.5983C>T (p.Arg1995Ter)	rs773711154	0.00001
NM_001369.3(DNAH5):c.6335_6336insT (p.Gln2112fs)	rs779506456	0.00001
NM_001369.3(DNAH5):c.7096C>T (p.Arg2366Trp)	rs868151020	0.00001
NM_001369.3(DNAH5):c.7915C>T (p.Arg2639Ter)	rs375053470	0.00001
NM_001369.3(DNAH5):c.8010+3A>G	rs748171209	0.00001
NM_001369.3(DNAH5):c.8147T>C (p.Ile2716Thr)	rs746501395	0.00001
NM_001369.3(DNAH5):c.832del (p.Ala278fs)	rs727502977	0.00001
NM_001369.3(DNAH5):c.8383C>T (p.Arg2795Ter)	rs560398270	0.00001
NM_001369.3(DNAH5):c.9637del (p.Ala3213fs)	rs1305797678	0.00001
NM_001369.3(DNAH5):c.12009G>A (p.Trp4003Ter)	rs2126564103
NM_001369.3(DNAH5):c.13760A>G (p.Tyr4587Cys)	rs1320036244
NM_001369.3(DNAH5):c.1731-2A>T	rs2151963411
NM_001369.3(DNAH5):c.2772del (p.Thr924_Leu925insTer)	rs1554090622
NM_001369.3(DNAH5):c.3037_3040del (p.Val1014fs)	rs1580731750
NM_001369.3(DNAH5):c.3598+2T>C	rs981267400
NM_001369.3(DNAH5):c.4117-2A>G	rs1467301649
NM_001369.3(DNAH5):c.5147G>C (p.Arg1716Pro)	rs74799487
NM_001369.3(DNAH5):c.5588del (p.Phe1863fs)	rs2151860332
NM_001369.3(DNAH5):c.6037C>T (p.Arg2013Ter)	rs1273352530
NM_001369.3(DNAH5):c.6932_6935del (p.Asp2311fs)	rs1554062097
NM_001369.3(DNAH5):c.6988+2T>C	rs2151806960
NM_001369.3(DNAH5):c.8092_8097del (p.Val2698_Asp2699del)	rs1757363484
NM_001369.3(DNAH5):c.8141del (p.Asn2714fs)	rs2126910254
NM_001369.3(DNAH5):c.9799C>T (p.Gln3267Ter)	rs923842695

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.