ClinVar Miner

List of variants reported as uncertain significance for Combined oxidative phosphorylation defect type 23 by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 3

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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.392G>C (p.Ser131Thr)	rs767434617	0.00001
NM_032620.4(GTPBP3):c.673G>A (p.Glu225Lys)	rs778983997	0.00001

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