List of variants in gene combination POLG, POLGARF reported as pathogenic for Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 10

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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.752C>T (p.Thr251Ile)	rs113994094	0.00159
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg)	rs121918054	0.00096
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr)	rs113994095	0.00068
NM_002693.3(POLG):c.2542G>A (p.Gly848Ser)	rs113994098	0.00028
NM_002693.3(POLG):c.911T>G (p.Leu304Arg)	rs121918044	0.00004
NM_002693.3(POLG):c.2557C>T (p.Arg853Trp)	rs121918053	0.00003
NM_002693.3(POLG):c.2419C>T (p.Arg807Cys)	rs769827124	0.00001
NM_002693.3(POLG):c.915C>G (p.Ser305Arg)	rs769410130	0.00001
NM_002693.3(POLG):c.8G>C (p.Arg3Pro)	rs121918045

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