ClinVar Miner

List of variants in gene GCH1 reported as pathogenic for Dystonia 5; GTP cyclohydrolase I deficiency

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Total variants: 23
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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.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.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.76del (p.Asp26fs) rs1595031674

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