ClinVar Miner

List of variants reported as uncertain significance for Vitamin B12-responsive methylmalonic acidemia type cblA by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
Download table as spreadsheet
NM_172250.3(MMAA):c.1135T>C (p.Phe379Leu)
NM_172250.3(MMAA):c.1142C>T (p.Thr381Ile) rs1057520160
NM_172250.3(MMAA):c.175G>C (p.Asp59His) rs371779800
NM_172250.3(MMAA):c.304G>A (p.Ala102Thr) rs1328584680
NM_172250.3(MMAA):c.347A>G (p.Lys116Arg)
NM_172250.3(MMAA):c.676G>A (p.Glu226Lys)
NM_172250.3(MMAA):c.67T>C (p.Cys23Arg)
NM_172250.3(MMAA):c.800C>T (p.Ala267Val) rs138854691
NM_172250.3(MMAA):c.833G>A (p.Gly278Asp) rs761964238
NM_172250.3(MMAA):c.940C>T (p.Arg314Cys)
NM_172250.3(MMAA):c.947G>A (p.Arg316His)
NM_172250.3(MMAA):c.989G>A (p.Arg330Gln) rs140031911

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.