ClinVar Miner

List of variants reported as pathogenic for Progressive sclerosing poliodystrophy; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; Mitochondrial DNA depletion syndrome 4b by Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili

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Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_002693.3(POLG):c.1457G>A (p.Trp486Ter)	rs2055531147

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