ClinVar Miner

List of variants reported as likely pathogenic for Leigh syndrome by Integrated Genetics/Laboratory Corporation of America

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
Download table as spreadsheet
NM_002495.4(NDUFS4):c.472_476dup (p.Tyr160fs)
NM_003172.4(SURF1):c.106+1G>C rs863224926
NM_003172.4(SURF1):c.183_186del (p.Leu62fs)
NM_003172.4(SURF1):c.631_632del (p.Glu211fs) rs1554768333
NM_003172.4(SURF1):c.752-1G>C rs1391748504
NM_078470.6(COX15):c.452C>G (p.Ser151Ter) rs149718203
NM_133259.4(LRPPRC):c.3130C>T (p.Arg1044Ter) rs1558936154

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.