ClinVar Miner

List of variants studied for inherited renal tubular disease by Genomics England Pilot Project, Genomics England

Included ClinVar conditions (192):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr) rs121912691 0.00175
NM_014270.5(SLC7A9):c.671C>T (p.Ala224Val) rs140873167 0.00006
NM_153717.3(EVC):c.2894+3A>G rs1424976594 0.00001
NM_001126108.2(SLC12A3):c.334G>T (p.Glu112Ter) rs200219778
NM_001126108.2(SLC12A3):c.505+5G>A rs751112698
NM_153717.3(EVC):c.1813C>T (p.Gln605Ter) rs1553889992

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.