ClinVar Miner

List of variants in gene ACE reported as uncertain significance by Gharavi Laboratory, Columbia University

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000789.4(ACE):c.1743dup (p.Gln582fs) rs1568039403
NM_000789.4(ACE):c.1922-309C>A rs532464035
NM_000789.4(ACE):c.1922-336dup rs1156450082
NM_000789.4(ACE):c.2173C>T (p.Gln725Ter) rs139263584
NM_000789.4(ACE):c.2192_2193inv (p.Ala731Val)
NM_000789.4(ACE):c.3335A>G (p.Asp1112Gly) rs1568047328
NM_000789.4(ACE):c.3538_3539delinsGT (p.Pro1180Val) rs1568048955

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.