ClinVar Miner

List of variants studied for Mitochondrial complex III deficiency nuclear type 6

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001916.5(CYC1):c.226A>G (p.Met76Val) rs7820984 0.95875
NM_001916.5(CYC1):c.99T>G (p.Arg33=) rs11541475 0.86270
NM_001916.5(CYC1):c.772+19_772+20del rs200379271 0.85101
NM_001916.5(CYC1):c.873+7G>A rs200281879 0.00202
NM_001916.5(CYC1):c.11C>T (p.Ala4Val)
NM_001916.5(CYC1):c.288G>T (p.Trp96Cys) rs587777041
NM_001916.5(CYC1):c.643C>T (p.Leu215Phe) rs587777042
NM_001916.5(CYC1):c.949C>T (p.Arg317Trp) rs374087453

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.