ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP
NM_000161.3(GCH1):c.*1056_*1057insAT rs144676716
NM_000161.3(GCH1):c.*1142G>A rs10151500
NM_000161.3(GCH1):c.*1183C>T rs76009965
NM_000161.3(GCH1):c.*1230C>T rs56130647
NM_000161.3(GCH1):c.*243C>T rs841
NM_000161.3(GCH1):c.*732A>G rs45454691
NM_000161.3(GCH1):c.*883_*885CTT[3] rs145762799
NM_000161.3(GCH1):c.-121T>C rs1753589
NM_000161.3(GCH1):c.-131C>T rs115939621
NM_000161.3(GCH1):c.-40C>T rs28458175
NM_000161.3(GCH1):c.68C>T (p.Pro23Leu) rs41298432

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