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:
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Gene type:
ClinVar version:
Total variants: 21
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HGVS dbSNP
NM_000161.2(GCH1):c.*1122A>T rs56126158
NM_000161.2(GCH1):c.*1130C>G rs543818323
NM_000161.2(GCH1):c.*1176C>G rs113211390
NM_000161.2(GCH1):c.*12T>C rs190993883
NM_000161.2(GCH1):c.*1463_*1464dupAT rs55885280
NM_000161.2(GCH1):c.*1479G>T rs533240612
NM_000161.2(GCH1):c.*1628A>C rs185031007
NM_000161.2(GCH1):c.*1719C>T rs551251353
NM_000161.2(GCH1):c.*1915T>C rs17128017
NM_000161.2(GCH1):c.*20C>T rs143111433
NM_000161.2(GCH1):c.*727A>G rs138578359
NM_000161.2(GCH1):c.*736A>G rs150176097
NM_000161.2(GCH1):c.*830A>T rs542811477
NM_000161.2(GCH1):c.-169C>T rs538405738
NM_000161.2(GCH1):c.206C>T (p.Pro69Leu) rs56127440
NM_000161.2(GCH1):c.507G>A (p.Ala169=) rs150158277
NM_000161.2(GCH1):c.509+8T>A rs753570450
NM_000161.2(GCH1):c.582G>A (p.Thr194=) rs199836777
NM_000161.2(GCH1):c.626+9G>T rs374007793
NM_000161.2(GCH1):c.68C>T (p.Pro23Leu) rs41298432
NM_000161.2(GCH1):c.69C>T (p.Pro23=) rs767294964

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