ClinVar Miner

List of variants in gene NDUFAF2 studied for Inborn genetic diseases

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_174889.5(NDUFAF2):c.131A>C (p.Gln44Pro) rs775605330 0.00007
NM_174889.5(NDUFAF2):c.196G>C (p.Asp66His) rs769579395 0.00005
NM_174889.5(NDUFAF2):c.139C>T (p.Arg47Ter) rs137852863 0.00004
NM_174889.5(NDUFAF2):c.98A>G (p.Tyr33Cys) rs779872068 0.00002
NM_174889.5(NDUFAF2):c.167A>G (p.Asn56Ser) rs750914742 0.00001
NM_174889.5(NDUFAF2):c.62A>G (p.Glu21Gly)
NM_174889.5(NDUFAF2):c.80A>T (p.Gln27Leu) rs753215899
NM_174889.5(NDUFAF2):c.95A>G (p.Tyr32Cys)

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.