ClinVar Miner

List of variants reported as likely pathogenic for Vitamin B12-responsive methylmalonic acidemia type cblB by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
Download table as spreadsheet
NM_052845.4(MMAB):c.1A>C (p.Met1Leu)
NM_052845.4(MMAB):c.2T>G (p.Met1Arg)
NM_052845.4(MMAB):c.519+1G>A rs1592998207
NM_052845.4(MMAB):c.557G>A (p.Arg186Gln) rs773059864
NM_052845.4(MMAB):c.581_582del (p.Arg194fs) rs1592997663
NM_052845.4(MMAB):c.644+1G>A rs1592996077

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.