List of variants in gene NDUFA12 studied for Mitochondrial complex 1 deficiency, nuclear type 23

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_018838.5(NDUFA12):c.178C>T (p.Arg60Ter)	rs387907139	0.00025
NM_018838.5(NDUFA12):c.69T>G (p.Tyr23Ter)	rs774252307	0.00002
NM_018838.5(NDUFA12):c.121dup (p.Glu41fs)	rs1592708249
NM_018838.5(NDUFA12):c.153CAA[1] (p.Asn52del)
NM_018838.5(NDUFA12):c.224G>A (p.Trp75Ter)	rs2136069811
NM_018838.5(NDUFA12):c.253G>T (p.Glu85Ter)	rs1592704794
NM_018838.5(NDUFA12):c.395del (p.Lys132fs)	rs2136056220
NM_018838.5(NDUFA12):c.4G>T (p.Glu2Ter)	rs1411237396
NM_018838.5(NDUFA12):c.83del (p.Phe28fs)	rs1259705655
NM_018838.5(NDUFA12):c.83dup (p.Arg29fs)	rs1259705655
NM_018838.5(NDUFA12):c.86G>A (p.Arg29Lys)	rs747101350

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.