ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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NM_000161.2(GCH1):c.-169C>T rs538405738
NM_000161.3(GCH1):c.*1122A>T rs56126158
NM_000161.3(GCH1):c.*1130C>G rs543818323
NM_000161.3(GCH1):c.*1176C>G rs113211390
NM_000161.3(GCH1):c.*1463_*1464dup rs55885280
NM_000161.3(GCH1):c.*1479G>T rs533240612
NM_000161.3(GCH1):c.*20C>T rs143111433
NM_000161.3(GCH1):c.204C>T (p.Leu68=) rs557778839
NM_000161.3(GCH1):c.206C>T (p.Pro69Leu) rs56127440
NM_000161.3(GCH1):c.297C>T (p.Ala99=) rs776450369
NM_000161.3(GCH1):c.507G>C (p.Ala169=) rs150158277
NM_000161.3(GCH1):c.626+9G>T rs374007793
NM_000161.3(GCH1):c.69C>T (p.Pro23=) rs767294964

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