ClinVar Miner

List of variants in gene GCH1 reported as likely pathogenic for Dystonia 5; GTP cyclohydrolase I deficiency

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Gene type:
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Total variants: 4
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NM_000161.3(GCH1):c.212T>C (p.Leu71Pro) rs1555362843
NM_000161.3(GCH1):c.281C>A (p.Thr94Lys) rs1566687244
NM_000161.3(GCH1):c.293C>T (p.Ala98Val)
NM_000161.3(GCH1):c.614T>A (p.Val205Glu) rs1418922853

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