ClinVar Miner

List of variants reported as likely benign for Succinate-semialdehyde dehydrogenase deficiency by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001080.3(ALDH5A1):c.*784C>T rs115442722 0.00977
NM_001080.3(ALDH5A1):c.*1239T>G rs191960134 0.00705
NM_001080.3(ALDH5A1):c.*1877A>G rs41271787 0.00686
NM_001080.3(ALDH5A1):c.961G>A (p.Val321Met) rs115784602 0.00349
NM_001080.3(ALDH5A1):c.*1883C>T rs139473699 0.00318
NM_001080.3(ALDH5A1):c.130C>G (p.Leu44Val) rs185042766 0.00257
NM_001080.3(ALDH5A1):c.1348G>A (p.Asp450Asn) rs144177566 0.00229
NM_001080.3(ALDH5A1):c.480C>T (p.Ser160=) rs143486700 0.00217
NM_001080.3(ALDH5A1):c.*40T>C rs146793715 0.00132
NM_001080.3(ALDH5A1):c.*3190A>G rs182106500 0.00117
NM_001080.3(ALDH5A1):c.13A>G (p.Ile5Val) rs200398000 0.00096
NM_001080.3(ALDH5A1):c.293C>G (p.Ala98Gly) rs535825137 0.00076
NM_001080.3(ALDH5A1):c.*1249T>A rs149522807 0.00017
NM_001080.3(ALDH5A1):c.*1515C>T rs368136060 0.00014
NM_001080.3(ALDH5A1):c.62G>A (p.Gly21Asp) rs371923295 0.00014
NM_001080.3(ALDH5A1):c.*1349A>G rs542892289 0.00003
NM_001080.3(ALDH5A1):c.*2778del rs771652776
NM_001080.3(ALDH5A1):c.709G>T (p.Ala237Ser) rs62621664

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.