List of variants studied for Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins by Counsyl

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 5

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_018006.5(TRMU):c.28G>T (p.Ala10Ser)	rs11090865	0.13476
NM_018006.5(TRMU):c.835G>A (p.Val279Met)	rs387907022	0.00011
NM_018006.5(TRMU):c.40G>A (p.Gly14Ser)	rs751248771	0.00004
NM_018006.5(TRMU):c.1073_1081dup (p.Gln358_Val360dup)	rs753112330
NM_018006.5(TRMU):c.880del (p.Arg294fs)	rs1490906786

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.