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Results: 5

NameGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review statusChrLocation
(GRCh38)
1.
COA6not providedUncertain significance
(Aug 21, 2014)
classified by single submitter
2.
AGKCataract and cardiomyopathyPathogenic
(Jul 20, 2012)
classified by single submitter
3.
AGKCataract and cardiomyopathyPathogenic
(Jul 20, 2012)
classified by single submitter
4.
AGKCataract and cardiomyopathyPathogenic
(Jul 20, 2012)
classified by single submitter
5.
NDUFB3Mitochondrial complex I deficiencyPathogenic
(Dec 4, 2012)
classified by single submitter

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