ClinVar Miner

List of variants studied for Combined oxidative phosphorylation deficiency 32

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_023936.2(MRPS34):c.97C>A (p.Leu33Ile) rs11552431 0.10486
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.562G>A (p.Glu188Lys) rs1313473522 0.00001
NM_023936.2(MRPS34):c.37G>A (p.Glu13Lys) rs1131692037
NM_023936.2(MRPS34):c.404T>C (p.Met135Thr)
NM_023936.2(MRPS34):c.532C>T (p.Arg178Ter)

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