ClinVar Miner

List of variants in gene GCH1 reported as pathogenic for GTP-cyclohydrolase I deficiency

Included ClinVar conditions (2):
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Gene type:
ClinVar version:
Total variants: 17
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NM_000161.3(GCH1):c.127_130dup (p.Ala44fs)
NM_000161.3(GCH1):c.186_197delinsA (p.Asp63fs) rs1555362845
NM_000161.3(GCH1):c.1A>G (p.Met1Val)
NM_000161.3(GCH1):c.220_223del (p.Ala74fs) rs1566687321
NM_000161.3(GCH1):c.248dup (p.Glu84fs)
NM_000161.3(GCH1):c.323G>A (p.Gly108Asp) rs104894435
NM_000161.3(GCH1):c.344-1G>A rs1555360050
NM_000161.3(GCH1):c.344-1G>C rs1555360050
NM_000161.3(GCH1):c.532A>T (p.Arg178Ter)
NM_000161.3(GCH1):c.551G>A (p.Arg184His) rs104894445
NM_000161.3(GCH1):c.607G>A (p.Gly203Arg) rs988395114
NM_000161.3(GCH1):c.626+1G>A rs1555358507
NM_000161.3(GCH1):c.633G>A (p.Met211Ile) rs104894443
NM_000161.3(GCH1):c.76del (p.Asp26fs)

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