ClinVar Miner

List of variants in gene ALDH7A1 reported as pathogenic by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
Download table as spreadsheet
NM_001182.5(ALDH7A1):c.1003C>T (p.Arg335Ter)
NM_001182.5(ALDH7A1):c.1193G>T (p.Gly398Val) rs864622557
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln) rs121912707
NM_001182.5(ALDH7A1):c.1513G>C (p.Gly505Arg) rs556400964
NM_001182.5(ALDH7A1):c.1566-1G>T rs140845195
NM_001182.5(ALDH7A1):c.328C>T (p.Arg110Ter) rs121912708
NM_001182.5(ALDH7A1):c.34del (p.Ala12fs) rs750693623
NM_001182.5(ALDH7A1):c.43_46dup (p.Ser16fs) rs767805540
NM_001182.5(ALDH7A1):c.530C>A (p.Ala177Glu) rs764417585
NM_001182.5(ALDH7A1):c.532_542del (p.Leu178fs) rs765119568
NM_001182.5(ALDH7A1):c.584A>G (p.Asn195Ser) rs372660425
NM_001182.5(ALDH7A1):c.589C>T (p.Pro197Ser) rs779652673
NM_001182.5(ALDH7A1):c.796C>T (p.Arg266Ter) rs1270423610
NM_001182.5(ALDH7A1):c.834G>A (p.Val278=)
NM_001182.5(ALDH7A1):c.986G>A (p.Arg329Lys) rs864622558

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.