ClinVar Miner

List of variants in gene PAH reported as likely benign for amino acid or protein metabolism disease with epilepsy

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 32
Download table as spreadsheet
HGVS dbSNP
NM_000277.3(PAH):c.*144A>G rs375319584
NM_000277.3(PAH):c.1010G>A (p.Gly337Glu) rs62517206
NM_000277.3(PAH):c.1066-31G>A rs199475685
NM_000277.3(PAH):c.1140G>A (p.Thr380=) rs373763334
NM_000277.3(PAH):c.1152C>G (p.Pro384=) rs281865458
NM_000277.3(PAH):c.1161C>T (p.Tyr387=) rs149595475
NM_000277.3(PAH):c.1199+70G>A rs281865457
NM_000277.3(PAH):c.158G>A (p.Arg53His) rs118092776
NM_000277.3(PAH):c.169-42T>A rs281865459
NM_000277.3(PAH):c.352+11G>C rs371926082
NM_000277.3(PAH):c.399T>C (p.Asn133=) rs145692106
NM_000277.3(PAH):c.424C>T (p.Leu142=) rs375364629
NM_000277.3(PAH):c.442-18G>A rs149538764
NM_000277.3(PAH):c.442-4C>G rs987125136
NM_000277.3(PAH):c.456T>C (p.Pro152=) rs377244118
NM_000277.3(PAH):c.500A>G (p.Asn167Ser) rs77554925
NM_000277.3(PAH):c.588C>T (p.Ser196=) rs755420480
NM_000277.3(PAH):c.609C>T (p.Cys203=) rs1801147
NM_000277.3(PAH):c.612T>C (p.Tyr204=) rs62514928
NM_000277.3(PAH):c.681G>A (p.Leu227=) rs182135145
NM_000277.3(PAH):c.706+17G>T rs62508592
NM_000277.3(PAH):c.707-7A>T rs62508624
NM_000277.3(PAH):c.772C>T (p.Leu258=) rs75065106
NM_000277.3(PAH):c.820A>G (p.Lys274Glu) rs142934616
NM_000277.3(PAH):c.837C>T (p.Pro279=) rs138355741
NM_000277.3(PAH):c.894C>T (p.Ser298=) rs765823928
NM_000277.3(PAH):c.963C>T (p.Leu321=) rs61747292
NM_000277.3(PAH):c.969+7C>T rs80324017
NM_001354304.2(PAH):c.-95-129G>A rs886048892
NM_001354304.2(PAH):c.-95-360del rs113191080
NM_001354304.2(PAH):c.-95-385_-95-382del rs147576673
NM_001354304.2(PAH):c.-95-52C>T rs62517177

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.