List of variants in gene POLG reported as likely pathogenic 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: 3

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HGVS	dbSNP	gnomAD frequency
NM_002693.3(POLG):c.3104+1G>A	rs138917386	0.00005
NM_002693.3(POLG):c.3286C>T (p.Arg1096Cys)	rs201732356	0.00003
NM_002693.3(POLG):c.3104+2T>A	rs747632869	0.00001

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