List of variants in gene ACE reported as likely pathogenic for Renal tubular dysgenesis of genetic origin

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000789.4(ACE):c.1342+1G>T	rs1404223383	0.00001
NM_000789.4(ACE):c.2062C>T (p.Gln688Ter)
NM_000789.4(ACE):c.2T>C (p.Met1Thr)	rs1005792910
NM_000789.4(ACE):c.3503+1G>C	rs779188587
NM_000789.4(ACE):c.3G>T (p.Met1Ile)	rs2510680823
NM_000789.4(ACE):c.798C>A (p.Tyr266Ter)	rs121912704
NM_000789.4(ACE):c.973del (p.Val325fs)	rs2510687443

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.