ClinVar Miner

List of variants reported as likely pathogenic for Combined oxidative phosphorylation defect type 23 by Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_032620.4(GTPBP3):c.440C>T (p.Ala147Val) rs774708853 0.00001
NM_032620.4(GTPBP3):c.1112T>C (p.Leu371Pro) rs770871640
NM_032620.4(GTPBP3):c.517C>T (p.Arg173Trp) rs1274363168

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