ClinVar Miner

List of variants reported as pathogenic for Leber hereditary optic neuropathy by Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine

Included ClinVar conditions (7):

Kearns-Sayre syndrome; Leber optic atrophy; MERRF syndrome; Juvenile myopathy, encephalopathy, lactic acidosis AND stroke; NARP syndrome; Leigh syndrome; Progressive external ophthalmoplegia
Leber optic atrophy
Leber optic atrophy and dystonia
Leber optic atrophy, susceptibility to
Leber optic atrophy; Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
Leber optic atrophy; Juvenile myopathy, encephalopathy, lactic acidosis AND stroke; Mitochondrial DNA-Associated Leigh Syndrome and NARP
Leber optic atrophy; NARP syndrome; Mitochondrial DNA-Associated Leigh Syndrome and NARP

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NC_012920.1:m.11778G>A	rs199476112
NC_012920.1:m.14484T>C	rs199476104
NC_012920.1:m.3460G>A	rs199476118
m.10663T>C	rs1556423844
m.11777C>A	rs28384199
m.13042G>A	rs267606898

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