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Results: 2

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
ChrMT:14484
GRCh38:
ChrMT:14484
MT-ND6Leber's optic atrophy, Leigh's diseasePathogenic
(Apr 17, 2014)
no assertion criteria provided
2.
GRCh37:
ChrMT:7445
GRCh38:
ChrMT:7445
MT-CO1, MT-TS1Keratoderma palmoplantar deafness, Deafness, nonsyndromic sensorineural, mitochondrialPathogenic
(Mar 19, 2013)
no assertion criteria provided