List of variants in gene combination POLG, POLGARF reported as likely pathogenic for 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: 5

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HGVS	dbSNP	gnomAD frequency
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu)	rs113994096	0.00160
NM_002693.3(POLG):c.3286C>T (p.Arg1096Cys)	rs201732356	0.00003
NM_002693.3(POLG):c.1816dup (p.Thr606fs)	rs1319481399	0.00001
NM_002693.3(POLG):c.3317T>C (p.Val1106Ala)	rs1354582663	0.00001
NM_002693.3(POLG):c.844T>G (p.Tyr282Asp)	rs1290567099

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