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
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HGVS dbSNP
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

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