ClinVar Miner

List of variants in gene combination FANCI, POLG reported as benign for Progressive sclerosing poliodystrophy; Mitochondrial DNA depletion syndrome 1; 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.3708G>T (p.Gln1236His)	rs3087374	0.06272
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly)	rs2307441	0.02704

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