ClinVar Miner

List of variants reported as uncertain significance for Maple syrup urine disease, type 3 by Illumina Clinical Services Laboratory,Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 41
Download table as spreadsheet
HGVS dbSNP
NM_000108.5(DLD):c.*1027T>G
NM_000108.5(DLD):c.*1088A>G rs886061912
NM_000108.5(DLD):c.*1092C>T rs546777301
NM_000108.5(DLD):c.*1145A>T
NM_000108.5(DLD):c.*1231A>G
NM_000108.5(DLD):c.*1307C>T rs568807016
NM_000108.5(DLD):c.*1401G>T
NM_000108.5(DLD):c.*1422C>T
NM_000108.5(DLD):c.*1505C>T
NM_000108.5(DLD):c.*167T>C rs886061909
NM_000108.5(DLD):c.*1724C>G rs886061913
NM_000108.5(DLD):c.*1857A>C rs774099916
NM_000108.5(DLD):c.*1877A>G rs182010485
NM_000108.5(DLD):c.*225C>T rs553824101
NM_000108.5(DLD):c.*355A>G rs886061910
NM_000108.5(DLD):c.*374G>T
NM_000108.5(DLD):c.*394A>G
NM_000108.5(DLD):c.*498T>G rs886061911
NM_000108.5(DLD):c.*739G>A
NM_000108.5(DLD):c.*845G>A
NM_000108.5(DLD):c.*898C>T
NM_000108.5(DLD):c.-10C>T
NM_000108.5(DLD):c.-8G>T rs372155330
NM_000108.5(DLD):c.100A>G (p.Thr34Ala) rs138002793
NM_000108.5(DLD):c.116C>T (p.Pro39Leu) rs766396602
NM_000108.5(DLD):c.117G>A (p.Pro39=) rs751621846
NM_000108.5(DLD):c.1228A>C (p.Lys410Gln) rs886061907
NM_000108.5(DLD):c.1313T>C (p.Met438Thr)
NM_000108.5(DLD):c.1465-7C>G rs886061908
NM_000108.5(DLD):c.1503G>A (p.Ala501=) rs766286119
NM_000108.5(DLD):c.226C>T (p.Leu76Phe)
NM_000108.5(DLD):c.30C>A (p.Ser10=)
NM_000108.5(DLD):c.321A>G (p.Ala107=) rs138398782
NM_000108.5(DLD):c.375G>A (p.Glu125=) rs559057715
NM_000108.5(DLD):c.520A>G (p.Ile174Val)
NM_000108.5(DLD):c.55C>G (p.Arg19Gly) rs144038427
NM_000108.5(DLD):c.677T>C (p.Val226Ala) rs750449027
NM_000108.5(DLD):c.74A>C (p.Gln25Pro) rs61749951
NM_000108.5(DLD):c.763A>C (p.Met255Leu) rs533405046
NM_000108.5(DLD):c.788G>A (p.Arg263His) rs145670503
NM_000108.5(DLD):c.860G>A (p.Gly287Glu) rs202125745

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.