ClinVar Miner

List of variants studied for Leigh syndrome by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002496.4(NDUFS8):c.598G>A (p.Ala200Thr) rs578145610 0.00006
NM_004168.4(SDHA):c.1462G>A (p.Ala488Thr) rs369100772 0.00005
NM_002495.4(NDUFS4):c.355G>C (p.Asp119His) rs747359752 0.00001
NM_004168.4(SDHA):c.1660C>T (p.Arg554Trp) rs9809219 0.00001
NM_002496.4(NDUFS8):c.484G>A (p.Val162Met) rs1277027467
NM_003172.4(SURF1):c.794_795dup (p.Thr266fs) rs1588688823
NM_003172.4(SURF1):c.808_814dup (p.Leu272fs) rs1554768224
NM_004168.4(SDHA):c.1794+105dup rs1561011159
NM_017547.4(FOXRED1):c.568C>T (p.Pro190Ser) rs1555065162
NM_152416.4(NDUFAF6):c.719G>T (p.Gly240Val) rs762620949

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.