ClinVar Miner

List of variants in gene SURF1 reported as likely benign for Leigh syndrome

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP
NM_003172.3(SURF1):c.211G>C (p.Val71Leu) rs147993882
NM_003172.3(SURF1):c.280T>C (p.Leu94=) rs28615629
NM_003172.3(SURF1):c.303G>A (p.Glu101=) rs1554768670
NM_003172.3(SURF1):c.54+9_54+22delCGGGTGCGGGGTGC rs782659731
NM_003172.3(SURF1):c.543C>T (p.Phe181=) rs62637580
NM_003172.3(SURF1):c.573C>G (p.Thr191=) rs28715079
NM_003172.3(SURF1):c.603G>A (p.Val201=) rs782635006
NM_003172.3(SURF1):c.604G>C (p.Asp202His) rs72619327
NM_003172.3(SURF1):c.687T>C (p.Tyr229=) rs373154583
NM_003172.3(SURF1):c.879C>T (p.Phe293=) rs145088629

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.