ClinVar Miner

List of variants in gene NDUFS7 reported as uncertain significance for Leigh syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_024407.5(NDUFS7):c.153C>T (p.Ala51=) rs140236960 0.00196
NM_024407.5(NDUFS7):c.*16C>T rs573586959 0.00070
NM_024407.5(NDUFS7):c.270C>T (p.Ala90=) rs375120743 0.00016
NM_024407.5(NDUFS7):c.138G>A (p.Leu46=) rs147710123 0.00012
NM_024407.5(NDUFS7):c.525C>T (p.Pro175=) rs757488156 0.00007
NM_024407.5(NDUFS7):c.*8G>A rs756081375 0.00006
NM_024407.5(NDUFS7):c.52C>T (p.Arg18Cys) rs769894226 0.00006
NM_024407.5(NDUFS7):c.158C>T (p.Ala53Val) rs565395435 0.00004
NM_024407.5(NDUFS7):c.455+13C>T rs376025020 0.00004
NM_024407.5(NDUFS7):c.322G>A (p.Val108Met) rs368174338 0.00003
NM_024407.5(NDUFS7):c.5C>T (p.Ala2Val) rs775410920 0.00003
NM_024407.5(NDUFS7):c.613C>G (p.Arg205Gly) rs775856806 0.00003
NM_024407.5(NDUFS7):c.*94G>A rs1329105128 0.00001
NM_024407.5(NDUFS7):c.21T>C (p.Pro7=) rs201222388 0.00001
NM_024407.5(NDUFS7):c.45T>G (p.Leu15=) rs1193585808 0.00001
NM_024407.5(NDUFS7):c.*3CCG[4] rs3065757
NM_024407.5(NDUFS7):c.*3CCG[5] rs3065757
NM_024407.5(NDUFS7):c.561C>A (p.Ala187=) rs144570086

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.