ClinVar Miner

List of variants reported as uncertain significance for Maple syrup urine disease by Fulgent Genetics, Fulgent Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000709.4(BCKDHA):c.664G>A (p.Ala222Thr) rs141086188 0.00036
NM_000709.4(BCKDHA):c.1277C>T (p.Ser426Phe) rs557058340 0.00005
NM_000709.4(BCKDHA):c.946C>T (p.Arg316Trp) rs758442329 0.00003
NM_000709.4(BCKDHA):c.1087C>T (p.Arg363Trp) rs942815730 0.00002
NM_000709.4(BCKDHA):c.277G>A (p.Glu93Lys) rs753452195 0.00001
NM_000709.4(BCKDHA):c.944G>A (p.Arg315Gln) rs201109190 0.00001
NM_001918.5(DBT):c.673A>C (p.Ile225Leu) rs1472099889 0.00001
NM_183050.4(BCKDHB):c.119C>T (p.Ala40Val) rs752892659 0.00001
NM_183050.4(BCKDHB):c.529T>C (p.Cys177Arg) rs398124583 0.00001
NM_000709.4(BCKDHA):c.495G>A (p.Met165Ile) rs754327984
NM_183050.4(BCKDHB):c.951+4T>C rs778135997

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.