ClinVar Miner

List of variants in gene combination ALDH4A1, LOC129929550 reported as likely benign for hyperprolinemia type 2

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003748.4(ALDH4A1):c.-4C>A rs9426797 0.03554
NM_003748.4(ALDH4A1):c.47C>T (p.Pro16Leu) rs146450609 0.02500
NM_003748.4(ALDH4A1):c.-7A>G rs9426679 0.02115
NM_003748.4(ALDH4A1):c.42C>G (p.Ser14=)

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.