ClinVar Miner

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

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

Total variants: 6

Download table as spreadsheet

HGVS	dbSNP
NM_018006.5(TRMU):c.229T>C (p.Tyr77His)	rs118203990
NM_018006.5(TRMU):c.2T>A (p.Met1Lys)	rs118203992
NM_018006.5(TRMU):c.815G>A (p.Gly272Asp)	rs118203991
NM_018006.5(TRMU):c.835G>A (p.Val279Met)	rs387907022
TRMU, IVS11AS, C-G, -3	rs0
TRMU, IVS3AS, G-A, -1	rs0

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.