ClinVar Miner

List of variants in gene GCH1 reported as pathogenic for TH-deficient dopa-responsive dystonia

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP
GCH1, 1-BP DEL, 351A
NM_000161.3(GCH1):c.323G>A (p.Gly108Asp) rs104894435
NM_000161.3(GCH1):c.595C>G (p.Pro199Ala) rs137852633
NM_000161.3(GCH1):c.662T>C (p.Met221Thr) rs104894434
NM_000161.3(GCH1):c.671A>G (p.Lys224Arg) rs41298442
NM_000161.3(GCH1):c.747G>C (p.Arg249Ser) rs104894442

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