ClinVar Miner

List of variants reported as likely pathogenic for 6-pyruvoyl-tetrahydropterin synthase deficiency

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Total variants: 21
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HGVS dbSNP
NM_000161.3(GCH1):c.274C>A (p.Leu92Ile) rs763294577
NM_000317.3(PTS):c.164-2A>G rs1555198233
NM_000317.3(PTS):c.166G>A (p.Val56Met) rs104894277
NM_000317.3(PTS):c.166_168GTG[1] (p.Val57del) rs770387277
NM_000317.3(PTS):c.186+1G>T rs1256819927
NM_000317.3(PTS):c.225_226TC[1] (p.Leu76fs) rs1555198263
NM_000317.3(PTS):c.243_243+1dup rs866922524
NM_000317.3(PTS):c.244-1G>T rs1555198451
NM_000317.3(PTS):c.260C>T (p.Pro87Leu) rs765406631
NM_000317.3(PTS):c.297C>A (p.Tyr99Ter) rs145882709
NM_000317.3(PTS):c.314+1G>C rs1555198462
NM_000317.3(PTS):c.315-1G>C rs776543880
NM_000317.3(PTS):c.315-2A>G rs1555198483
NM_000317.3(PTS):c.317C>T (p.Thr106Met) rs200712908
NM_000317.3(PTS):c.337del (p.Tyr113fs) rs1555198494
NM_000317.3(PTS):c.347A>G (p.Asp116Gly) rs104894279
NM_000317.3(PTS):c.370G>T (p.Val124Leu) rs150726932
NM_000317.3(PTS):c.393del (p.Val132fs) rs780332520
NM_000317.3(PTS):c.73C>G (p.Arg25Gly) rs1167104933
NM_000317.3(PTS):c.83+1G>A rs927103678
NM_000317.3(PTS):c.84-3C>G rs1230781262

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