List of variants in gene POLG reported as likely pathogenic for Mitochondrial DNA depletion syndrome

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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: 7

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HGVS	dbSNP	gnomAD frequency
NM_002693.3(POLG):c.868C>T (p.Arg290Cys)	rs753416225	0.00006
NM_002693.3(POLG):c.2557C>T (p.Arg853Trp)	rs121918053	0.00003
NM_002693.3(POLG):c.3317T>C (p.Val1106Ala)	rs1354582663	0.00001
NM_002693.3(POLG):c.2391G>T (p.Met797Ile)	rs2152062357
NM_002693.3(POLG):c.2768G>A (p.Gly923Asp)
NM_002693.3(POLG):c.3286C>G (p.Arg1096Gly)	rs201732356
NM_002693.3(POLG):c.830A>T (p.His277Leu)	rs138929605

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