ClinVar Miner

List of variants studied for inborn disorder of amino acid metabolism by Medical Laboratory Center, Huzhou Maternal and Child Health Hospital

Included ClinVar conditions (416):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000277.3(PAH):c.721C>T (p.Arg241Cys) rs76687508 0.00009
NM_000255.4(MMUT):c.1286A>G (p.Tyr429Cys) rs201741770 0.00005
NM_000277.3(PAH):c.1285C>A (p.Gln429Lys) rs764974157
NM_000277.3(PAH):c.722G>A (p.Arg241His) rs62508730

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.