ClinVar Miner

List of variants in gene PAH reported as likely benign for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000277.3(PAH):c.707-7A>T rs62508624 0.02868
NM_000277.3(PAH):c.60+299C>G rs75094967 0.01299
NM_000277.3(PAH):c.168+267A>T rs113190378 0.01283
NM_001354304.2(PAH):c.-95-532G>A rs77411738 0.01268
NM_000277.3(PAH):c.509+140G>A rs112222839 0.01009
NM_000277.3(PAH):c.772C>T (p.Leu258=) rs75065106 0.00272
NM_000277.3(PAH):c.30C>G (p.Gly10=) rs1801145 0.00069
NM_000277.3(PAH):c.1161C>T (p.Tyr387=) rs149595475 0.00023
NM_000277.3(PAH):c.352+305del rs3062651
NM_000277.3(PAH):c.414T>C (p.Tyr138=) rs1592968741
NM_000277.3(PAH):c.510-20_510-18dup rs398123293

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.