List of variants in gene POLG, POLGARF studied 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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 11

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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.460G>A (p.Ala154Thr)	rs753858440	0.00009
NM_002693.3(POLG):c.331G>C (p.Gly111Arg)	rs760170099	0.00004
NM_002693.3(POLG):c.191C>G (p.Ser64Trp)	rs1397887879	0.00001
NM_002693.3(POLG):c.679C>T (p.Arg227Trp)	rs121918056	0.00001
NM_002693.3(POLG):c.86C>G (p.Ser29Cys)	rs796052895	0.00001
NM_002693.3(POLG):c.130C>T (p.Gln44Ter)
NM_002693.3(POLG):c.178C>T (p.Gln60Ter)
NM_002693.3(POLG):c.45dup (p.Pro16fs)
NM_002693.3(POLG):c.590_596del (p.Phe197fs)
NM_002693.3(POLG):c.660-2A>G	rs2141806882

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