ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NC_000014.9:g.(?_54902301)_(54902683_?)del
NM_000161.2(GCH1):c.186_197delGGATAACGAGCTinsA (p.Asp63Glufs) rs1555362845
NM_000161.2(GCH1):c.220_223delGCCT (p.Ala74Thrfs)
NM_000161.2(GCH1):c.344-1G>A rs1555360050
NM_000161.2(GCH1):c.344-1G>C rs1555360050
NM_000161.2(GCH1):c.551G>A (p.Arg184His) rs104894445
NM_000161.2(GCH1):c.626+1G>A rs1555358507
NM_000161.2(GCH1):c.633G>A (p.Met211Ile) rs104894443

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