ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
Download table as spreadsheet
HGVS dbSNP
NC_000014.9:g.(?_54859671)_(54865446_?)del
NC_000014.9:g.(?_54865307)_(54865456_?)del
NC_000014.9:g.(?_54865317)_(54865446_?)del
NC_000014.9:g.(?_54902301)_(54902683_?)del
NC_000014.9:g.(?_54902311)_(54902702_?)del
NM_000161.3(GCH1):c.127_130dup (p.Ala44fs) rs1595031524
NM_000161.3(GCH1):c.186_197delinsA (p.Asp63fs) rs1555362845
NM_000161.3(GCH1):c.1A>G (p.Met1Val) rs1555362907
NM_000161.3(GCH1):c.220_223del (p.Ala74fs) rs1566687321
NM_000161.3(GCH1):c.248dup (p.Glu84fs) rs1595031221
NM_000161.3(GCH1):c.250G>T (p.Glu84Ter)
NM_000161.3(GCH1):c.26_27insTCT (p.Ala10_Glu11insLeu) rs1595031768
NM_000161.3(GCH1):c.323G>A (p.Gly108Asp) rs104894435
NM_000161.3(GCH1):c.344-1G>A rs1555360050
NM_000161.3(GCH1):c.344-1G>C rs1555360050
NM_000161.3(GCH1):c.473del (p.Pro158fs)
NM_000161.3(GCH1):c.509+1_509+3delinsTGTGAG rs1594982939
NM_000161.3(GCH1):c.532A>T (p.Arg178Ter) rs1594971274
NM_000161.3(GCH1):c.541+1G>C rs1555358599
NM_000161.3(GCH1):c.541+1G>T rs1555358599
NM_000161.3(GCH1):c.551G>A (p.Arg184His) rs104894445
NM_000161.3(GCH1):c.607G>A (p.Gly203Arg) rs988395114
NM_000161.3(GCH1):c.626+1G>A rs1555358507
NM_000161.3(GCH1):c.631_632del (p.Met211fs) rs886039379
NM_000161.3(GCH1):c.633G>A (p.Met211Ile) rs104894443
NM_000161.3(GCH1):c.646C>T (p.Arg216Ter) rs41298440
NM_000161.3(GCH1):c.76del (p.Asp26fs) rs1595031674

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.