List of variants in gene POLG reported as 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: 5

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HGVS	dbSNP	gnomAD frequency
NM_002693.3(POLG):c.2554C>T (p.Arg852Cys)	rs144500145	0.00006
NM_002693.3(POLG):c.911T>G (p.Leu304Arg)	rs121918044	0.00004
NM_002693.3(POLG):c.2143C>T (p.Gln715Ter)	rs1254855971	0.00001
NM_002693.3(POLG):c.3643+2T>C	rs1335880349
NM_002693.3(POLG):c.925C>T (p.Arg309Cys)	rs886041592

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