List of variants reported as likely pathogenic for combined oxidative phosphorylation deficiency by Genetics and Molecular Pathology, SA Pathology

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001083614.2(EARS2):c.320G>A (p.Arg107His)	rs1021330566	0.00001
NM_025150.5(TARS2):c.695+3A>G	rs587777594	0.00001
NM_032620.4(GTPBP3):c.521G>C (p.Arg174Pro)	rs766510741

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