ClinVar Miner

List of variants reported as likely pathogenic by ClinGen PAH Variant Curation Expert Panel,

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Total variants: 49
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HGVS dbSNP
NM_000277.3(PAH):c.1033G>A (p.Ala345Thr) rs62516062
NM_000277.3(PAH):c.1065+3A>G rs62508689
NM_000277.3(PAH):c.1101G>A (p.Leu367=) rs62508648
NM_000277.3(PAH):c.110T>C (p.Leu37Pro) rs869312996
NM_000277.3(PAH):c.1216A>G (p.Ile406Val) rs749613899
NM_000277.3(PAH):c.1217T>C (p.Ile406Thr) rs62644469
NM_000277.3(PAH):c.1218A>G (p.Ile406Met) rs773526027
NM_000277.3(PAH):c.1285C>A (p.Gln429Lys) rs764974157
NM_000277.3(PAH):c.1315+2T>C rs1799970
NM_000277.3(PAH):c.136G>C (p.Gly46Arg) rs74603784
NM_000277.3(PAH):c.164T>C (p.Phe55Ser) rs281865438
NM_000277.3(PAH):c.169G>A (p.Glu57Lys) rs140945592
NM_000277.3(PAH):c.194T>A (p.Ile65Asn) rs75193786
NM_000277.3(PAH):c.224A>G (p.Asp75Gly) rs1565866547
NM_000277.3(PAH):c.224A>T (p.Asp75Val) rs1565866547
NM_000277.3(PAH):c.242C>A (p.Thr81Asn) rs796064502
NM_000277.3(PAH):c.355C>T (p.Pro119Ser) rs398123292
NM_000277.3(PAH):c.434A>T (p.Asp145Val) rs140175796
NM_000277.3(PAH):c.464G>C (p.Arg155Pro) rs199475663
NM_000277.3(PAH):c.470G>C (p.Arg157Thr) rs199475611
NM_000277.3(PAH):c.473G>C (p.Arg158Pro) rs5030843
NM_000277.3(PAH):c.490A>G (p.Ile164Val) rs199475647
NM_000277.3(PAH):c.500A>T (p.Asn167Ile) rs77554925
NM_000277.3(PAH):c.506G>A (p.Arg169His) rs199475679
NM_000277.3(PAH):c.511G>A (p.Gly171Arg) rs199475613
NM_000277.3(PAH):c.520A>G (p.Ile174Val) rs199475632
NM_000277.3(PAH):c.535T>A (p.Tyr179Asn) rs199475671
NM_000277.3(PAH):c.581T>C (p.Leu194Pro) rs5030844
NM_000277.3(PAH):c.688G>A (p.Val230Ile) rs62516152
NM_000277.3(PAH):c.694C>G (p.Gln232Glu) rs62507348
NM_000277.3(PAH):c.712A>G (p.Thr238Ala) rs199475577
NM_000277.3(PAH):c.739G>A (p.Gly247Ser) rs62508731
NM_000277.3(PAH):c.739G>C (p.Gly247Arg) rs62508731
NM_000277.3(PAH):c.773T>C (p.Leu258Pro) rs1565846899
NM_000277.3(PAH):c.785T>G (p.Val262Gly) rs281865445
NM_000277.3(PAH):c.796A>C (p.Thr266Pro) rs62508752
NM_000277.3(PAH):c.801G>C (p.Gln267His) rs199475675
NM_000277.3(PAH):c.803A>G (p.Tyr268Cys) rs1565846805
NM_000277.3(PAH):c.812A>G (p.His271Arg) rs199475692
NM_000277.3(PAH):c.813T>G (p.His271Gln) rs1565846764
NM_000277.3(PAH):c.818C>T (p.Ser273Phe) rs62514953
NM_000277.3(PAH):c.824C>G (p.Pro275Arg) rs62508715
NM_000277.3(PAH):c.826A>G (p.Met276Val) rs62516149
NM_000277.3(PAH):c.827T>A (p.Met276Lys) rs62508722
NM_000277.3(PAH):c.841C>T (p.Pro281Ser) rs199475654
NM_000277.3(PAH):c.842+3G>C rs62507324
NM_000277.3(PAH):c.842+4A>G rs1555204434
NM_000277.3(PAH):c.842C>T (p.Pro281Leu) rs5030851
NM_000277.3(PAH):c.859C>G (p.Leu287Val) rs781096854

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