ClinVar Miner

List of variants in gene UPK3A reported as benign for renal hypodysplasia/aplasia 1

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006953.4(UPK3A):c.460G>C (p.Ala154Pro) rs1057353 0.78464
NM_006953.4(UPK3A):c.402C>T (p.Val134=) rs2673088 0.61535
NM_006953.4(UPK3A):c.549A>G (p.Ser183=) rs1135360 0.56430
NM_006953.4(UPK3A):c.858A>G (p.Gln286=) rs1057356 0.50960
NM_006953.4(UPK3A):c.465C>T (p.Pro155=) rs62001037 0.02422
NM_006953.4(UPK3A):c.272A>T (p.Gln91Leu) rs6006979 0.01361

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.