ClinVar Miner

List of variants reported as benign for GTP cyclohydrolase I deficiency

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_000161.3(GCH1):c.-121T>C rs1753589 0.96017
NM_000161.3(GCH1):c.*243C>T rs841 0.22091
NM_000161.3(GCH1):c.*732A>G rs45454691 0.10500
NM_000161.3(GCH1):c.*1230C>T rs56130647 0.07553
NM_000161.3(GCH1):c.-40C>T rs28458175 0.05363
NM_000161.3(GCH1):c.*1183C>T rs76009965 0.05289
NM_000161.3(GCH1):c.-131C>T rs115939621 0.04950
NM_000161.3(GCH1):c.*1056_*1057insAT rs144676716 0.04397
NM_000161.3(GCH1):c.*1142G>A rs10151500 0.04130
NM_000161.3(GCH1):c.*1915T>C rs17128017 0.01571
NM_000161.3(GCH1):c.509+15G>A rs116688703 0.00856
NM_000161.3(GCH1):c.-69G>C rs533157442 0.00580
NM_000161.3(GCH1):c.68C>T (p.Pro23Leu) rs41298432 0.00389
NM_000161.3(GCH1):c.*93G>A rs41298438 0.00249
NM_000161.3(GCH1):c.211C>T (p.Leu71=) rs141883031 0.00227
NM_000161.3(GCH1):c.*736A>G rs150176097 0.00151
NM_000161.3(GCH1):c.*1044G>A rs143961472 0.00088
NM_000161.3(GCH1):c.*12T>C rs190993883 0.00057
NM_000161.3(GCH1):c.206C>T (p.Pro69Leu) rs56127440 0.00035
NM_000161.3(GCH1):c.*1130C>G rs543818323 0.00031
NM_000161.3(GCH1):c.507G>A (p.Ala169=) rs150158277 0.00029
NM_000161.3(GCH1):c.69C>T (p.Pro23=) rs767294964 0.00023
NM_000161.3(GCH1):c.*256A>G rs181674470 0.00014
NM_000161.3(GCH1):c.*1010C>T rs764569623 0.00006
NM_000161.3(GCH1):c.582G>A (p.Thr194=) rs199836777 0.00006
NM_000161.3(GCH1):c.509+8T>A rs753570450 0.00003
NM_000161.3(GCH1):c.542-19C>T rs201405174 0.00003
NC_000014.9:g.54902903_54902920del rs1408430070
NM_000161.3(GCH1):c.*1122A>T rs56126158
NM_000161.3(GCH1):c.*1176C>G rs113211390
NM_000161.3(GCH1):c.*677G>A rs10136966
NM_000161.3(GCH1):c.*727A>G rs138578359
NM_000161.3(GCH1):c.*830A>T rs542811477
NM_000161.3(GCH1):c.*883CTT[3] rs145762799
NM_000161.3(GCH1):c.344-16715G>A rs11158026
NM_000161.3(GCH1):c.626+9G>T rs374007793

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