ClinVar Miner

List of variants reported as likely benign for Methylmalonic acidemia with homocystinuria cblD by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
Download table as spreadsheet
HGVS dbSNP
NM_015702.3(MMADHC):c.515A>C (p.Lys172Thr) rs147318949
NM_015702.3(MMADHC):c.707C>T (p.Pro236Leu) rs143753228
NM_015702.3(MMADHC):c.855A>T (p.Pro285=) rs768988562

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.