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NameGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review statusChrLocation
(GRCh38)
1.
POLGAutosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1, not providedGO-ESP:0.00785(C)
GMAF:0.00180(C)
Pathogenic/Likely pathogenic
(Oct 25, 2013)
classified by multiple submitters1589321842