ClinVar Miner

List of variants studied for Mitochondrial complex 1 deficiency, nuclear type 29 by OMIM

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

Total variants: 4

Download table as spreadsheet

HGVS	dbSNP
NM_001350393.1(TMEM126B):c.172+103G>A	rs573006534
NM_018480.5(TMEM126B):c.208C>T (p.Gln70Ter)	rs886037857
NM_018480.5(TMEM126B):c.401del (p.Asn134fs)	rs886037835
NM_018480.5(TMEM126B):c.635G>T (p.Gly212Val)	rs141542003

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.