ClinVar Miner

List of variants in gene GTPBP3 reported as uncertain significance for combined oxidative phosphorylation defect type 23

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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.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.664+18T>G rs369523370 0.00001
NM_032620.4(GTPBP3):c.682G>T (p.Ala228Ser) rs772348422 0.00001
NM_032620.4(GTPBP3):c.1439T>A (p.Ile480Asn) rs558425417
NM_032620.4(GTPBP3):c.413C>A (p.Ala138Glu) rs770906277

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.