List of variants in gene combination POLG, POLGARF reported as likely pathogenic 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: 13

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HGVS	dbSNP	gnomAD frequency
NM_002693.3(POLG):c.428C>T (p.Ala143Val)	rs796052899	0.00004
NM_002693.2(POLG):c.[2554C>T];[32G>A]
NM_002693.2(POLG):c.[2693T>C];[924G>T]
NM_002693.3(POLG):c.130C>T (p.Gln44Ter)
NM_002693.3(POLG):c.1362G>T (p.Glu454Asp)	rs1596358408
NM_002693.3(POLG):c.178C>T (p.Gln60Ter)
NM_002693.3(POLG):c.2792T>G (p.Leu931Arg)	rs1484810169
NM_002693.3(POLG):c.45dup (p.Pro16fs)
NM_002693.3(POLG):c.502G>C (p.Ala168Pro)	rs2055619068
NM_002693.3(POLG):c.590_596del (p.Phe197fs)
NM_002693.3(POLG):c.624C>A (p.Cys208Ter)	rs1159974816
NM_002693.3(POLG):c.660-2A>G	rs2141806882
NM_002693.3(POLG):c.67_88del (p.Gly23fs)	rs2055630470

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