ClinVar Miner

List of variants in gene ALDH7A1 reported as likely benign for Pyridoxine-dependent epilepsy

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
Download table as spreadsheet
NM_001182.4(ALDH7A1):c.-117G>T rs146562077
NM_001182.4(ALDH7A1):c.-60G>A rs144272515
NM_001182.5(ALDH7A1):c.*1368A>T rs115645125
NM_001182.5(ALDH7A1):c.*1672A>G rs78029541
NM_001182.5(ALDH7A1):c.*1741T>A rs744720
NM_001182.5(ALDH7A1):c.*1804C>T rs744723
NM_001182.5(ALDH7A1):c.*2254T>A rs76249070
NM_001182.5(ALDH7A1):c.*548C>T rs1060856
NM_001182.5(ALDH7A1):c.1016A>G (p.His339Arg) rs199767457
NM_001182.5(ALDH7A1):c.1224T>C (p.Tyr408=) rs121912710
NM_001182.5(ALDH7A1):c.1234A>G (p.Thr412Ala) rs2306618
NM_001182.5(ALDH7A1):c.1315A>C (p.Lys439Gln) rs12514417
NM_001182.5(ALDH7A1):c.1567A>G (p.Thr523Ala) rs61757684
NM_001182.5(ALDH7A1):c.273T>C (p.Thr91=) rs60720055
NM_001182.5(ALDH7A1):c.417C>T (p.Ile139=) rs772201739
NM_001182.5(ALDH7A1):c.518-12T>G rs79544459
NM_001182.5(ALDH7A1):c.675C>T (p.Leu225=) rs57902950
NM_001182.5(ALDH7A1):c.852G>C (p.Leu284=) rs747107627
NM_001182.5(ALDH7A1):c.871+8T>G rs750152298

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.