ClinVar Miner

List of variants in gene PAH reported as uncertain significance by Eurofins NTD LLC (GA)

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000277.3(PAH):c.506G>A (p.Arg169His) rs199475679 0.00020
NM_000277.3(PAH):c.1002C>T (p.Cys334=) rs140243918 0.00004
NM_000277.3(PAH):c.169G>A (p.Glu57Lys) rs140945592 0.00001
NM_000277.3(PAH):c.310_318del (p.Ala104_Val106del) rs398123291 0.00001
NM_000277.3(PAH):c.356C>T (p.Pro119Leu) rs374999809 0.00001
NM_000277.3(PAH):c.520A>G (p.Ile174Val) rs199475632 0.00001
NM_000277.3(PAH):c.535T>A (p.Tyr179Asn) rs199475671 0.00001
NM_000277.3(PAH):c.590T>G (p.Leu197Trp) rs886042078 0.00001
NM_000277.3(PAH):c.716G>T (p.Gly239Val) rs62507283 0.00001
NM_000277.3(PAH):c.1003A>G (p.Lys335Glu) rs886042068
NM_000277.3(PAH):c.1065+3A>G rs62508689
NM_000277.3(PAH):c.1156T>C (p.Tyr386His) rs199475691
NM_000277.3(PAH):c.1198A>C (p.Arg400=) rs199475593
NM_000277.3(PAH):c.1210G>C (p.Ala404Pro) rs886043085
NM_000277.3(PAH):c.1286A>C (p.Gln429Pro) rs794727047
NM_000277.3(PAH):c.464G>C (p.Arg155Pro) rs199475663
NM_000277.3(PAH):c.500A>T (p.Asn167Ile) rs77554925
NM_000277.3(PAH):c.607T>A (p.Cys203Ser) rs1555204715
NM_000277.3(PAH):c.841C>T (p.Pro281Ser) rs199475654
NM_000277.3(PAH):c.983C>T (p.Thr328Ile) rs886042096

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.