ClinVar Miner

List of variants in gene combination POLG, POLGARF reported as uncertain significance 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

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_002693.3(POLG):c.328C>T (p.His110Tyr)	rs139599587	0.00026
NM_002693.3(POLG):c.331G>C (p.Gly111Arg)	rs760170099	0.00004

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