List of variants reported as likely pathogenic for combined oxidative phosphorylation defect type 17

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

Total variants: 19

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_018127.7(ELAC2):c.2030-2A>G	rs1033730754	0.00002
NM_018127.7(ELAC2):c.1305-2A>G	rs779254943	0.00001
NM_018127.7(ELAC2):c.1444G>T (p.Glu482Ter)	rs763770476	0.00001
NM_018127.7(ELAC2):c.1489C>T (p.Arg497Ter)	rs550032922	0.00001
NM_018127.7(ELAC2):c.245+2T>A	rs748684065	0.00001
NM_018127.7(ELAC2):c.432+1G>A	rs769454280	0.00001
NM_018127.7(ELAC2):c.1028T>G (p.Met343Arg)	rs1555575927
NM_018127.7(ELAC2):c.1080-1G>C	rs2143607002
NM_018127.7(ELAC2):c.1521-2A>G
NM_018127.7(ELAC2):c.1699-1G>A
NM_018127.7(ELAC2):c.1809-1G>A
NM_018127.7(ELAC2):c.1908+1G>A	rs1014558424
NM_018127.7(ELAC2):c.2029+1G>A
NM_018127.7(ELAC2):c.2109-6_2111del
NM_018127.7(ELAC2):c.225C>A (p.Tyr75Ter)
NM_018127.7(ELAC2):c.246-2A>G	rs2143692659
NM_018127.7(ELAC2):c.797+1G>A
NM_018127.7(ELAC2):c.929A>C (p.Glu310Ala)	rs1555576642
NM_018127.7(ELAC2):c.984-2A>G

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.