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

Included ClinVar conditions (1):

Combined oxidative phosphorylation defect type 23

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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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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