ClinVar Miner

List of variants reported as uncertain significance for Sjogren-Larsson syndrome by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 33
Download table as spreadsheet
HGVS dbSNP
NM_000382.3(ALDH3A2):c.*1030G>T
NM_000382.3(ALDH3A2):c.*1258A>C
NM_000382.3(ALDH3A2):c.*1452C>G
NM_000382.3(ALDH3A2):c.*1600C>G
NM_000382.3(ALDH3A2):c.*1788C>G
NM_000382.3(ALDH3A2):c.*1802A>G
NM_000382.3(ALDH3A2):c.*1900A>G
NM_000382.3(ALDH3A2):c.*1938G>A
NM_000382.3(ALDH3A2):c.*1971A>G
NM_000382.3(ALDH3A2):c.*292G>T
NM_000382.3(ALDH3A2):c.*330T>C
NM_000382.3(ALDH3A2):c.*36G>A
NM_000382.3(ALDH3A2):c.*377_*378TG[2]
NM_000382.3(ALDH3A2):c.*378G>A
NM_000382.3(ALDH3A2):c.*439G>C
NM_000382.3(ALDH3A2):c.*636T>C
NM_000382.3(ALDH3A2):c.*669del
NM_000382.3(ALDH3A2):c.*700G>T
NM_000382.3(ALDH3A2):c.-149C>G
NM_000382.3(ALDH3A2):c.-3G>A
NM_000382.3(ALDH3A2):c.-97G>A
NM_000382.3(ALDH3A2):c.1021C>G (p.Pro341Ala) rs140519419
NM_000382.3(ALDH3A2):c.1188T>G (p.Ser396=)
NM_000382.3(ALDH3A2):c.1270C>T (p.Pro424Ser) rs61737992
NM_000382.3(ALDH3A2):c.1444-4C>T
NM_000382.3(ALDH3A2):c.28C>T (p.Gln10Ter)
NM_000382.3(ALDH3A2):c.417G>A (p.Leu139=)
NM_000382.3(ALDH3A2):c.566T>C (p.Val189Ala)
NM_000382.3(ALDH3A2):c.680G>A (p.Arg227Lys)
NM_000382.3(ALDH3A2):c.786G>A (p.Lys262=)
NM_000382.3(ALDH3A2):c.86C>T (p.Ala29Val)
NM_000382.3(ALDH3A2):c.918T>C (p.Thr306=)
NM_000382.3(ALDH3A2):c.957C>T (p.Thr319=)

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.