List of variants in gene POLG, POLGARF studied for Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_002693.3(POLG):c.678G>C (p.Gln226His)	rs147282197	0.00056
NM_002693.3(POLG):c.428C>T (p.Ala143Val)	rs796052899	0.00004
NM_002693.2(POLG):c.[2693T>C];[924G>T]
NM_002693.3(POLG):c.1362G>T (p.Glu454Asp)	rs1596358408
NM_002693.3(POLG):c.2515del (p.Ala839fs)	rs1596352895
NM_002693.3(POLG):c.2792T>G (p.Leu931Arg)	rs1484810169
NM_002693.3(POLG):c.3574_3577del (p.Lys1191_Glu1192insTer)	rs1596348443
NM_002693.3(POLG):c.3630C>A (p.Tyr1210Ter)	rs139562274
NM_002693.3(POLG):c.624C>A (p.Cys208Ter)	rs1159974816

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