ClinVar Miner

List of variants studied for Combined oxidative phosphorylation deficiency 32 by OMIM

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Total variants: 4
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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.322-10G>A rs563189672 0.00015
NM_023936.1(MRPS34):c.321+1G>T rs1161932777 0.00001
NM_023936.2(MRPS34):c.37G>A (p.Glu13Lys) rs1131692037

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