ClinVar Miner

List of variants studied for Combined oxidative phosphorylation defect type 23 by OMIM

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_032620.4(GTPBP3):c.964G>C (p.Ala322Pro) rs372174278 0.00009
NM_032620.4(GTPBP3):c.1009G>C (p.Asp337His) rs886037735
NM_032620.4(GTPBP3):c.1291dup (p.Arg431fs) rs869320746
NM_032620.4(GTPBP3):c.1375G>A (p.Glu459Lys) rs886037734
NM_032620.4(GTPBP3):c.32_33delinsGTG (p.Gln11fs) rs886037736
NM_032620.4(GTPBP3):c.476A>T (p.Glu159Val) rs730880255

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