ClinVar Miner

List of variants reported as benign for Combined oxidative phosphorylation deficiency

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001083614.2(EARS2):c.*380_*384del rs3071379
NM_001083614.2(EARS2):c.*535del rs11300207
NM_020745.4(AARS2):c.*1284del rs35562884
NM_020745.4(AARS2):c.*1635_*1636insAA rs34687863
NM_020745.4(AARS2):c.*555_*556insATAAA rs111990690
NM_020745.4(AARS2):c.*633_*634insGGTATGGGTGCCCT rs112092257

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