List of variants in gene combination POLG, POLGARF reported as likely benign for hereditary skeletal muscle disorder

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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: 6

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HGVS	dbSNP	gnomAD frequency
NM_002693.3(POLG):c.30C>T (p.Ala10=)	rs1060504037	0.00001
NM_002693.3(POLG):c.126GCA[12] (p.Gln55dup)	rs41550117
NM_002693.3(POLG):c.126GCA[14] (p.Gln53_Gln55dup)	rs41550117
NM_002693.3(POLG):c.126GCA[5] (p.Gln50_Gln55del)	rs41550117
NM_002693.3(POLG):c.126GCA[8] (p.Gln53_Gln55del)	rs41550117
NM_002693.3(POLG):c.126GCA[9] (p.Gln54_Gln55del)	rs41550117

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