ClinVar Miner

List of variants reported as pathogenic for amino acid metabolism disease by Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University

Included ClinVar conditions (117):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005957.5(MTHFR):c.1004G>A (p.Arg335His) rs543016186 0.00004
NM_015506.3(MMACHC):c.609G>A (p.Trp203Ter) rs587776889 0.00002
NM_000156.6(GAMT):c.158_181+7del rs2144640849
NM_015506.3(MMACHC):c.658_660del (p.Lys220del) rs398124296

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.