ClinVar Miner

List of variants studied for amino acid metabolism disease by Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals

Included ClinVar conditions (436):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006907.4(PYCR1):c.355C>T (p.Arg119Cys) rs121918376 0.00014
NM_006907.4(PYCR1):c.59dup (p.Ala21fs) rs762218403 0.00001
NM_001271.4(CHD2):c.2095C>T (p.Arg699Trp)
NM_004974.4(KCNA2):c.1120A>G (p.Thr374Ala) rs1553181280
NM_004975.4(KCNB1):c.629C>T (p.Thr210Met) rs1555889162

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.