ClinVar Miner

List of variants studied for Combined oxidative phosphorylation deficiency 32 by Revvity Omics, Revvity

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_023936.2(MRPS34):c.94C>T (p.Gln32Ter) rs763672163 0.00071
NM_023936.2(MRPS34):c.404T>C (p.Met135Thr)
NM_023936.2(MRPS34):c.532C>T (p.Arg178Ter)

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