ClinVar Miner

List of variants in gene KCNJ5 reported by OMIM

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000890.5(KCNJ5):c.1159G>C (p.Gly387Arg) rs199830292 0.00008
NM_000890.5(KCNJ5):c.739G>A (p.Gly247Arg) rs200170681 0.00005
NM_000890.5(KCNJ5):c.451G>A (p.Gly151Arg) rs386352319
NM_000890.5(KCNJ5):c.452G>A (p.Gly151Glu) rs587777437
NM_000890.5(KCNJ5):c.470T>G (p.Ile157Ser) rs587777438
NM_000890.5(KCNJ5):c.472A>G (p.Thr158Ala) rs387906778
NM_000890.5(KCNJ5):c.736G>A (p.Glu246Lys) rs587777439

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.