ClinVar Miner

List of variants studied for Combined oxidative phosphorylation defect type 4 by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_003321.5(TUFM):c.198C>T (p.Ile66=) rs11542257 0.02831
NM_003321.5(TUFM):c.520-8A>T rs145900455 0.00116

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