List of variants in gene POLG 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)
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_002693.3(POLG):c.1550G>T (p.Gly517Val)	rs61752783	0.00516
NM_002693.3(POLG):c.803G>C (p.Gly268Ala)	rs61752784	0.00364
NM_002693.3(POLG):c.1837C>T (p.His613Tyr)	rs147407423	0.00166
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp)	rs145843073	0.00063
NM_002693.3(POLG):c.2021G>A (p.Gly674Asp)	rs200257554	0.00017
NM_002693.3(POLG):c.2218A>G (p.Asn740Asp)	rs78347903	0.00006
NM_002693.3(POLG):c.3323A>T (p.Tyr1108Phe)	rs765949668	0.00001
NM_002693.3(POLG):c.862C>T (p.Arg288Cys)	rs564582352	0.00001
NM_002693.3(POLG):c.2466C>G (p.Pro822=)	rs1235161601
NM_002693.3(POLG):c.3482+6C>T	rs55779802

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