ClinVar Miner

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

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000161.3(GCH1):c.*1463_*1464dup rs55885280 0.01521
NM_000161.3(GCH1):c.*20C>T rs143111433 0.00049
NM_000161.3(GCH1):c.206C>T (p.Pro69Leu) rs56127440 0.00035
NM_000161.3(GCH1):c.*1479G>T rs533240612 0.00034
NM_000161.3(GCH1):c.*1130C>G rs543818323 0.00031
NM_000161.3(GCH1):c.69C>T (p.Pro23=) rs767294964 0.00023
NM_000161.3(GCH1):c.*256A>G rs181674470 0.00014
NM_000161.2(GCH1):c.-169C>T rs538405738 0.00009
NM_000161.3(GCH1):c.*1122A>T rs56126158
NM_000161.3(GCH1):c.*1176C>G rs113211390

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