ClinVar Miner

List of variants studied for combined oxidative phosphorylation defect type 23

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 34
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_032620.4(GTPBP3):c.749T>C (p.Val250Ala) rs3810206 0.73925
NM_032620.4(GTPBP3):c.198A>C (p.Thr66=) rs1864112 0.73888
NM_032620.4(GTPBP3):c.974+38G>A rs4808623 0.62097
NM_032620.4(GTPBP3):c.974+37G>C rs11669718 0.24676
NM_032620.4(GTPBP3):c.1175C>G (p.Pro392Arg) rs149578279 0.00256
NM_032620.4(GTPBP3):c.1424G>C (p.Gly475Ala) rs200086297 0.00026
NM_032620.4(GTPBP3):c.169G>C (p.Ala57Pro) rs762821280 0.00009
NM_032620.4(GTPBP3):c.964G>C (p.Ala322Pro) rs372174278 0.00009
NM_032620.4(GTPBP3):c.592-1G>C rs763165541 0.00004
NM_032620.4(GTPBP3):c.776A>G (p.Asn259Ser) rs777934121 0.00004
NM_032620.4(GTPBP3):c.215C>T (p.Pro72Leu) rs542667981 0.00002
NM_032620.4(GTPBP3):c.673G>A (p.Glu225Lys) rs778983997 0.00002
NM_032620.4(GTPBP3):c.1385G>A (p.Arg462Gln) rs753748448 0.00001
NM_032620.4(GTPBP3):c.1409G>A (p.Arg470Gln) rs1228454692 0.00001
NM_032620.4(GTPBP3):c.188G>A (p.Arg63Gln) rs1404625905 0.00001
NM_032620.4(GTPBP3):c.392G>C (p.Ser131Thr) rs767434617 0.00001
NM_032620.4(GTPBP3):c.440C>T (p.Ala147Val) rs774708853 0.00001
NM_032620.4(GTPBP3):c.664+18T>G rs369523370 0.00001
NM_032620.4(GTPBP3):c.682G>T (p.Ala228Ser) rs772348422 0.00001
NM_032620.4(GTPBP3):c.1009G>C (p.Asp337His) rs886037735
NM_032620.4(GTPBP3):c.1112T>C (p.Leu371Pro) rs770871640
NM_032620.4(GTPBP3):c.1291dup (p.Arg431fs) rs869320746
NM_032620.4(GTPBP3):c.1375G>A (p.Glu459Lys) rs886037734
NM_032620.4(GTPBP3):c.1439T>A (p.Ile480Asn) rs558425417
NM_032620.4(GTPBP3):c.187C>T (p.Arg63Ter)
NM_032620.4(GTPBP3):c.32_33delinsGTG (p.Gln11fs) rs886037736
NM_032620.4(GTPBP3):c.413C>A (p.Ala138Glu) rs770906277
NM_032620.4(GTPBP3):c.424G>A (p.Glu142Lys) rs2074392366
NM_032620.4(GTPBP3):c.476A>T (p.Glu159Val) rs730880255
NM_032620.4(GTPBP3):c.517C>T (p.Arg173Trp) rs1274363168
NM_032620.4(GTPBP3):c.521G>C (p.Arg174Pro) rs766510741
NM_032620.4(GTPBP3):c.643G>T (p.Glu215Ter) rs1555726849
NM_032620.4(GTPBP3):c.664+23_664+26del rs765975578
NM_032620.4(GTPBP3):c.967del (p.Arg323fs)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.