ClinVar Miner

List of variants in gene combination POLG, POLGARF reported as uncertain significance for Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis

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Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_002693.3(POLG):c.678G>C (p.Gln226His) rs147282197 0.00052

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