ClinVar Miner

List of variants reported as not provided for Progressive sclerosing poliodystrophy; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; Spinocerebellar ataxia with epilepsy; Mitochondrial DNA depletion syndrome 4b; Progressive external ophthalmoplegia with mitochondrial DNA deletions

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Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_002693.3(POLG):c.3255dup (p.Ser1086fs)	rs1596350386

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