ClinVar Miner

List of variants reported as likely pathogenic for BH4-deficient hyperphenylalaninemia A

Included ClinVar conditions (1):
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Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_000317.3(PTS):c.317C>T (p.Thr106Met) rs200712908 0.00010
NM_000317.3(PTS):c.164-672C>T rs1030849527 0.00004
NM_000317.3(PTS):c.243_243+1dup rs866922524 0.00003
NM_000317.3(PTS):c.338A>G (p.Tyr113Cys) rs762894736 0.00003
NM_000317.3(PTS):c.370G>T (p.Val124Leu) rs150726932 0.00003
NM_000317.3(PTS):c.84-291A>G rs1480995114 0.00003
NM_000317.3(PTS):c.400G>A (p.Glu134Lys) rs779681799 0.00002
NM_000317.3(PTS):c.84-3C>G rs1230781262 0.00002
NM_000161.3(GCH1):c.274C>A (p.Leu92Ile) rs763294577 0.00001
NM_000317.3(PTS):c.104A>G (p.Glu35Gly) rs1328320990 0.00001
NM_000317.3(PTS):c.186+1G>T rs1256819927 0.00001
NM_000317.3(PTS):c.243+2T>C rs759363496 0.00001
NM_000317.3(PTS):c.260C>T (p.Pro87Leu) rs765406631 0.00001
NM_000317.3(PTS):c.297C>A (p.Tyr99Ter) rs145882709 0.00001
NM_000317.3(PTS):c.315-1G>C rs776543880 0.00001
NM_000317.3(PTS):c.347A>G (p.Asp116Gly) rs104894279 0.00001
NM_000317.3(PTS):c.367C>T (p.Pro123Ser) rs141163668 0.00001
NM_000317.3(PTS):c.379C>G (p.Leu127Val) rs1859971515 0.00001
NM_000317.3(PTS):c.46C>T (p.Arg16Cys) rs104894274 0.00001
NM_000317.3(PTS):c.78G>T (p.Leu26Phe) rs1317230624 0.00001
NM_000317.3(PTS):c.95G>A (p.Ser32Asn) rs374871539 0.00001
NM_000317.3(PTS):c.-24_9del rs2135407114
NM_000317.3(PTS):c.108C>G (p.Asn36Lys) rs1449216377
NM_000317.3(PTS):c.146A>G (p.His49Arg) rs750229518
NM_000317.3(PTS):c.163+1G>T rs2135408292
NM_000317.3(PTS):c.164-2A>G rs1555198233
NM_000317.3(PTS):c.164-716A>T rs1859903893
NM_000317.3(PTS):c.166G>A (p.Val56Met) rs104894277
NM_000317.3(PTS):c.166GTG[1] (p.Val57del) rs770387277
NM_000317.3(PTS):c.174_175del (p.Val59fs) rs2135408968
NM_000317.3(PTS):c.187-2A>G rs2135409169
NM_000317.3(PTS):c.208del (p.Val70fs)
NM_000317.3(PTS):c.227_228del (p.Leu76fs) rs1555198263
NM_000317.3(PTS):c.238A>G (p.Met80Val) rs1057517810
NM_000317.3(PTS):c.23_27dup (p.Cys10fs)
NM_000317.3(PTS):c.243+1G>T
NM_000317.3(PTS):c.244-1G>T rs1555198451
NM_000317.3(PTS):c.245A>G (p.Glu82Gly)
NM_000317.3(PTS):c.256C>T (p.Gln86Ter)
NM_000317.3(PTS):c.271A>G (p.Lys91Glu)
NM_000317.3(PTS):c.281A>G (p.Asp94Gly) rs1057517811
NM_000317.3(PTS):c.2T>G (p.Met1Arg) rs1859865221
NM_000317.3(PTS):c.314+1G>C rs1555198462
NM_000317.3(PTS):c.315-2A>G rs1555198483
NM_000317.3(PTS):c.337del (p.Tyr113fs) rs1555198494
NM_000317.3(PTS):c.342C>G (p.Ile114Met) rs17851590
NM_000317.3(PTS):c.351C>A (p.Asn117Lys) rs2135410460
NM_000317.3(PTS):c.385A>G (p.Lys129Glu)
NM_000317.3(PTS):c.393del (p.Val132fs) rs780332520
NM_000317.3(PTS):c.399C>G (p.Tyr133Ter)
NM_000317.3(PTS):c.400G>T (p.Glu134Ter) rs779681799
NM_000317.3(PTS):c.407A>G (p.Asp136Gly) rs1859972447
NM_000317.3(PTS):c.407A>T (p.Asp136Val) rs1859972447
NM_000317.3(PTS):c.65C>G (p.Ala22Gly) rs2135407190
NM_000317.3(PTS):c.73C>G (p.Arg25Gly) rs1167104933
NM_000317.3(PTS):c.74G>A (p.Arg25Gln) rs104894273
NM_000317.3(PTS):c.83+1G>A rs927103678
NM_000317.3(PTS):c.83+1G>C
NM_000317.3(PTS):c.84-1G>A
NM_000317.3(PTS):c.84-2A>G

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