ClinVar Miner

List of variants in gene PAH reported as uncertain significance for Phenylketonuria

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Total variants: 106
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HGVS dbSNP
NM_000277.2(PAH):c.-232C>G rs886048893
NM_000277.2(PAH):c.206_211dup (p.Ser70_Arg71insProSer) rs281865431
NM_000277.2(PAH):c.353-7_353-5dup rs1452763334
NM_000277.3(PAH):c.*144A>G
NM_000277.3(PAH):c.*19G>T rs372637021
NM_000277.3(PAH):c.*735T>C rs185081299
NM_000277.3(PAH):c.*772_*775del rs551502562
NM_000277.3(PAH):c.*79G>A rs569495604
NM_000277.3(PAH):c.-66_-65del rs997821067
NM_000277.3(PAH):c.-73C>G rs886048891
NM_000277.3(PAH):c.1031G>T (p.Gly344Val) rs62508582
NM_000277.3(PAH):c.1033G>A (p.Ala345Thr) rs62516062
NM_000277.3(PAH):c.1037G>A (p.Gly346Glu) rs1555203737
NM_000277.3(PAH):c.1065+39G>T rs62510582
NM_000277.3(PAH):c.1069T>C (p.Cys357Arg) rs62508595
NM_000277.3(PAH):c.1074A>T (p.Leu358Phe) rs376480977
NM_000277.3(PAH):c.1089G>C (p.Lys363Asn) rs63329263
NM_000277.3(PAH):c.1089G>T (p.Lys363Asn) rs63329263
NM_000277.3(PAH):c.1099C>G (p.Leu367Val) rs1565842281
NM_000277.3(PAH):c.1100T>C (p.Leu367Pro) rs62508574
NM_000277.3(PAH):c.1100T>G (p.Leu367Arg) rs62508574
NM_000277.3(PAH):c.1144T>C (p.Phe382Leu) rs1555203681
NM_000277.3(PAH):c.1150C>T (p.Pro384Ser) rs1555203677
NM_000277.3(PAH):c.1198A>C (p.Arg400=) rs199475593
NM_000277.3(PAH):c.1200-8G>A rs62507261
NM_000277.3(PAH):c.1218A>G (p.Ile406Met) rs773526027
NM_000277.3(PAH):c.1229T>C (p.Phe410Ser) rs62644475
NM_000277.3(PAH):c.1247C>A (p.Pro416Gln) rs1445893088
NM_000277.3(PAH):c.124_126del (p.Lys42del) rs1555209578
NM_000277.3(PAH):c.125_127AAG[2] (p.Glu44del) rs199475628
NM_000277.3(PAH):c.1262T>G (p.Ile421Ser)
NM_000277.3(PAH):c.1285C>A (p.Gln429Lys) rs764974157
NM_000277.3(PAH):c.1304A>T (p.Asp435Val)
NM_000277.3(PAH):c.1330C>T (p.Leu444Phe) rs1402168594
NM_000277.3(PAH):c.1352_1356TAAAG[1] (p.Ter453ProextTer?) rs794727086
NM_000277.3(PAH):c.157C>T (p.Arg53Cys) rs199475619
NM_000277.3(PAH):c.158G>A (p.Arg53His) rs118092776
NM_000277.3(PAH):c.161T>C (p.Leu54Ser) rs199475677
NM_000277.3(PAH):c.176A>G (p.Asp59Gly) rs199475672
NM_000277.3(PAH):c.176A>T (p.Asp59Val) rs199475672
NM_000277.3(PAH):c.184C>G (p.Leu62Val) rs1565866640
NM_000277.3(PAH):c.187A>C (p.Thr63Pro) rs199475568
NM_000277.3(PAH):c.190C>A (p.His64Asn) rs199475569
NM_000277.3(PAH):c.212G>A (p.Arg71His) rs62508695
NM_000277.3(PAH):c.223G>A (p.Asp75Asn)
NM_000277.3(PAH):c.281T>G (p.Ile94Ser) rs62508677
NM_000277.3(PAH):c.289A>C (p.Ile97Leu) rs142516271
NM_000277.3(PAH):c.293T>C (p.Leu98Ser) rs62517167
NM_000277.3(PAH):c.299A>G (p.His100Arg) rs148393887
NM_000277.3(PAH):c.301G>A (p.Asp101Asn) rs1555207979
NM_000277.3(PAH):c.307G>A (p.Gly103Ser) rs752792040
NM_000277.3(PAH):c.307G>T (p.Gly103Cys) rs752792040
NM_000277.3(PAH):c.30C>G (p.Gly10=) rs1801145
NM_000277.3(PAH):c.310_318del (p.Ala104_Val106del) rs398123291
NM_000277.3(PAH):c.339_341GAA[1] (p.Lys115del) rs1555207969
NM_000277.3(PAH):c.350C>T (p.Thr117Ile) rs281865439
NM_000277.3(PAH):c.355C>T (p.Pro119Ser) rs398123292
NM_000277.3(PAH):c.362T>C (p.Phe121Ser) rs1565859485
NM_000277.3(PAH):c.368G>T (p.Arg123Ile) rs199475681
NM_000277.3(PAH):c.379G>A (p.Glu127Lys) rs1555206565
NM_000277.3(PAH):c.441+4A>G rs62508586
NM_000277.3(PAH):c.443G>T (p.Gly148Val) rs1555205655
NM_000277.3(PAH):c.463C>T (p.Arg155Cys) rs539743701
NM_000277.3(PAH):c.493G>C (p.Ala165Pro) rs199475626
NM_000277.3(PAH):c.500A>G (p.Asn167Ser) rs77554925
NM_000277.3(PAH):c.505C>G (p.Arg169Gly) rs281865440
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.523C>T (p.Pro175Ser) rs199475604
NM_000277.3(PAH):c.559T>C (p.Trp187Arg) rs62507272
NM_000277.3(PAH):c.561G>C (p.Trp187Cys) rs62507336
NM_000277.3(PAH):c.568G>A (p.Val190Met) rs281865441
NM_000277.3(PAH):c.587C>A (p.Ser196Tyr) rs865899394
NM_000277.3(PAH):c.617A>G (p.Tyr206Cys) rs62508728
NM_000277.3(PAH):c.620A>G (p.Asn207Ser) rs62508721
NM_000277.3(PAH):c.637C>T (p.Leu213Phe) rs1131691945
NM_000277.3(PAH):c.649T>C (p.Cys217Arg) rs62508718
NM_000277.3(PAH):c.650G>A (p.Cys217Tyr) rs62508617
NM_000277.3(PAH):c.65C>A (p.Thr22Lys) rs199565868
NM_000277.3(PAH):c.668A>T (p.Asn223Ile) rs201245932
NM_000277.3(PAH):c.712A>C (p.Thr238Pro) rs199475577
NM_000277.3(PAH):c.718T>G (p.Phe240Val) rs62507337
NM_000277.3(PAH):c.71A>G (p.Tyr24Cys) rs539994406
NM_000277.3(PAH):c.737C>T (p.Ala246Val) rs199475610
NM_000277.3(PAH):c.740G>A (p.Gly247Asp) rs199475579
NM_000277.3(PAH):c.789C>G (p.Phe263Leu) rs62642944
NM_000277.3(PAH):c.791A>T (p.His264Leu) rs199475580
NM_000277.3(PAH):c.800A>G (p.Gln267Arg) rs778154939
NM_000277.3(PAH):c.800A>T (p.Gln267Leu) rs778154939
NM_000277.3(PAH):c.802T>C (p.Tyr268His) rs62507263
NM_000277.3(PAH):c.805A>C (p.Ile269Leu) rs62508692
NM_000277.3(PAH):c.811C>T (p.His271Tyr) rs62517164
NM_000277.3(PAH):c.812A>T (p.His271Leu) rs199475692
NM_000277.3(PAH):c.817T>C (p.Ser273Pro) rs1565846754
NM_000277.3(PAH):c.828G>A (p.Met276Ile) rs62514954
NM_000277.3(PAH):c.864G>C (p.Leu288Phe) rs62507327
NM_000277.3(PAH):c.870T>G (p.His290Gln) rs751203209
NM_000277.3(PAH):c.880T>A (p.Phe294Ile) rs1565846198
NM_000277.3(PAH):c.897T>C (p.Phe299=) rs886048890
NM_000277.3(PAH):c.899C>T (p.Ala300Val) rs199475609
NM_000277.3(PAH):c.934G>C (p.Gly312Arg) rs763115697
NM_000277.3(PAH):c.937G>A (p.Ala313Thr) rs62642912
NM_000277.3(PAH):c.965C>G (p.Ala322Gly) rs62514958
NM_000277.3(PAH):c.969+6T>A rs62517196
NM_000277.3(PAH):c.969A>G (p.Thr323=) rs199475637
NM_000277.3(PAH):c.983C>T (p.Thr328Ile) rs886042096

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