ClinVar Miner

List of variants reported as pathogenic for Leigh syndrome by GeneReviews

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 39
Download table as spreadsheet
NC_012920.1:m.10254G>A rs587776438
NC_012920.1:m.11984T>C rs200911567
NC_012920.1:m.13514A>G rs587776440
NC_012920.1:m.14484T>C rs199476104
NC_012920.1:m.1644G>T rs587776441
NC_012920.1:m.3243A>G rs199474657
NC_012920.1:m.3460G>A rs199476118
NC_012920.1:m.3481G>A rs587776433
NC_012920.1:m.3890G>A rs587776434
NC_012920.1:m.3928G>C rs587776442
NC_012920.1:m.5523T>G rs587776435
NC_012920.1:m.5559A>G rs1556423008
NC_012920.1:m.8839G>C rs1556423547
NC_012920.1:m.8851T>C rs199476136
NC_012920.1:m.8989G>C rs587776444
NC_012920.1:m.8993T>C rs199476133
NC_012920.1:m.8993T>G rs199476133
NC_012920.1:m.9176T>C rs199476135
NC_012920.1:m.9176T>G rs199476135
NC_012920.1:m.9185T>C rs199476138
NC_012920.1:m.9191T>C rs1556423632
NC_012920.1:m.9478T>C rs587776437
NM_004092.4(ECHS1):c.518C>T (p.Ala173Val) rs150321966
NM_004092.4(ECHS1):c.538A>G (p.Thr180Ala)
m.10158T>C rs199476117
m.10191T>C rs267606890
m.10197G>A rs267606891
m.11777C>A rs28384199
m.12706T>C rs267606893
m.13513G>A rs267606897
m.14459G>A rs199476105
m.14487T>C rs199476109
m.1624C>T rs199476144
m.4681T>C rs267606889
m.5537_5538insT rs199474672
m.8344A>G rs118192098
m.8363G>A rs118192100
m.9537dupC rs267606614
mitochondrial DNA deletion

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.