ClinVar Miner

List of variants in gene OPA1 reported as uncertain significance for Elevated serum creatine phosphokinase; Muscle weakness; Ptosis; Hypomimic face; Hepatic steatosis; EMG abnormality; EMG: myopathic abnormalities; EMG: myotonic runs; Progressive proximal muscle weakness

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1
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NM_001354663.2(OPA1):c.-260_-243del rs863224140

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