ClinVar Miner

List of variants reported as pathogenic for autosomal recessive proximal renal tubular acidosis

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001098484.3(SLC4A4):c.1661G>A (p.Arg554His) rs121908857 0.00001
NM_001098484.3(SLC4A4):c.1026A>C (p.Arg342Ser) rs121908856
NM_001098484.3(SLC4A4):c.831del (p.Lys277fs) rs1553913019
NM_003759.4(SLC4A4):c.85C>T (p.Gln29Ter) rs121908858

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.