ClinVar Miner

List of variants reported as likely benign for Phenylketonuria by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000277.3(PAH):c.707-7A>T rs62508624 0.02868
NM_000277.2(PAH):c.-147C>T rs62517177 0.02849
NM_000277.3(PAH):c.963C>T (p.Leu321=) rs61747292 0.01582
NM_000277.3(PAH):c.158G>A (p.Arg53His) rs118092776 0.00091
NM_000277.3(PAH):c.*144A>G rs375319584 0.00007
NM_000277.2(PAH):c.-224G>A rs886048892
NM_000277.2(PAH):c.-460delG rs113191080
NM_001354304.2(PAH):c.-95-385_-95-382del rs147576673

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.