ClinVar Miner

List of variants in gene PAH reported as pathogenic by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp) rs5030858 0.00092
NM_000277.3(PAH):c.1208C>T (p.Ala403Val) rs5030857 0.00057
NM_000277.3(PAH):c.734T>C (p.Val245Ala) rs76212747 0.00049
NM_000277.3(PAH):c.1315+1G>A rs5030861 0.00040
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937 0.00036
NM_000277.3(PAH):c.165T>G (p.Phe55Leu) rs199475598 0.00023
NM_000277.3(PAH):c.1243G>A (p.Asp415Asn) rs62644499 0.00011
NM_000277.3(PAH):c.117C>G (p.Phe39Leu) rs62642926 0.00009
NM_000277.3(PAH):c.434A>T (p.Asp145Val) rs140175796 0.00009
NM_000277.3(PAH):c.1045T>C (p.Ser349Pro) rs62508646 0.00008
NM_000277.3(PAH):c.1169A>G (p.Glu390Gly) rs5030856 0.00008
NM_000277.3(PAH):c.261C>A (p.Ser87Arg) rs62516151 0.00004
NM_000277.3(PAH):c.727C>T (p.Arg243Ter) rs5030846 0.00004
NM_000277.3(PAH):c.311C>A (p.Ala104Asp) rs62642929 0.00003
NM_000277.3(PAH):c.1066-3C>T rs62507344 0.00002
NM_000277.3(PAH):c.169-13T>G rs62507341 0.00001
NM_000277.3(PAH):c.1055del (p.Gly352fs) rs62516094
NM_000277.3(PAH):c.638T>C (p.Leu213Pro) rs62516109

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.