ClinVar Miner

List of variants in gene ALDH7A1 reported as likely pathogenic by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
Download table as spreadsheet
HGVS dbSNP
NM_001182.5(ALDH7A1):c.1232C>T (p.Pro411Leu) rs780233639
NM_001182.5(ALDH7A1):c.1301A>G (p.Tyr434Cys) rs747597620
NM_001182.5(ALDH7A1):c.1375A>T (p.Ile459Phe) rs186558364
NM_001182.5(ALDH7A1):c.1442T>A (p.Val481Glu) rs144701796
NM_001182.5(ALDH7A1):c.1551G>A (p.Met517Ile) rs1064794774
NM_001182.5(ALDH7A1):c.246+1G>A rs764588746
NM_001182.5(ALDH7A1):c.285_286insG (p.Arg96fs) rs758414053
NM_001182.5(ALDH7A1):c.529G>C (p.Ala177Pro) rs140102105
NM_001182.5(ALDH7A1):c.545G>A (p.Trp182Ter) rs1554100454
NM_001182.5(ALDH7A1):c.575C>T (p.Thr192Met) rs376917645
NM_001182.5(ALDH7A1):c.589C>T (p.Pro197Ser) rs779652673
NM_001182.5(ALDH7A1):c.5G>A (p.Trp2Ter) rs1554101995
NM_001182.5(ALDH7A1):c.632G>T (p.Cys211Phe) rs1131691976
NM_001182.5(ALDH7A1):c.664A>G (p.Thr222Ala) rs777829351
NM_001182.5(ALDH7A1):c.773+5G>A rs1131691580
NM_001182.5(ALDH7A1):c.826A>C (p.Thr276Pro) rs796052260
NM_001182.5(ALDH7A1):c.979G>A (p.Gly327Ser) rs1554099008

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.