ClinVar Miner

List of variants studied for Combined oxidative phosphorylation deficiency 43

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_013337.4(TIMM22):c.508+45A>G rs12941159 0.22287
NM_013337.4(TIMM22):c.97G>C (p.Val33Leu) rs149879547 0.00440
NM_013337.4(TIMM22):c.75C>A (p.Tyr25Ter) rs754537066 0.00004

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