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What This Variant Does
"CLNSIG=5
Associated Conditions
MELAS syndrome
Leigh syndrome
Leber optic atrophy
Mitochondrial disease
Primary mitochondrial disorders
MELAS syndrome
Leigh syndrome
Leber optic atrophy
Mitochondrial disease
Primary mitochondrial disorders
Other Variants in covers 22 genes, none of which curated to show dosage sensitivity