ClinVar Miner

List of variants in gene KCNJ11 reported as uncertain significance by Athena Diagnostics Inc

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000525.4(KCNJ11):c.1040G>A (p.Arg347His) rs771797701 0.00002
NM_000525.4(KCNJ11):c.874G>A (p.Glu292Lys) rs1174593640 0.00001
NM_000525.4(KCNJ11):c.174C>G (p.Asp58Glu) rs1237212288
NM_000525.4(KCNJ11):c.245G>A (p.Ser82Asn) rs1564865688
NM_000525.4(KCNJ11):c.346T>C (p.Ser116Pro) rs1953587696
NM_000525.4(KCNJ11):c.406C>A (p.Arg136Ser) rs766891274
NM_000525.4(KCNJ11):c.541C>T (p.Leu181Phe) rs1564865434
NM_000525.4(KCNJ11):c.980C>A (p.Ser327Tyr) rs1554901583
NM_000525.4(KCNJ11):c.989A>T (p.Tyr330Phe) rs193929356

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.