ClinVar Miner

List of variants reported as likely pathogenic for Mitochondrial myopathy with reversible cytochrome C oxidase deficiency by Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NC_012920.1(MT-ATP6):m.8719G>A rs28624611
NC_012920.1(MT-CO1):m.6145G>A rs1603220294
NC_012920.1(MT-CO1):m.7222A>G rs1603220834
NC_012920.1(MT-CYB):m.15579A>G rs207460002
NC_012920.1(MT-ND1):m.3502T>C rs1603218987
NC_012920.1(MT-ND1):m.3571del rs1603219020
NC_012920.1(MT-ND2):m.5367_5385del rs1603219920
m.15615G>A rs207459997

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