ClinVar Miner

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

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Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_000161.3(GCH1):c.671A>G (p.Lys224Arg) rs41298442 0.00039
NM_000161.3(GCH1):c.626+2dup rs1474519447 0.00001
NC_000014.8:g.(?_55310735)_(55313868_?)del
NC_000014.8:g.(?_55310735)_(55326474_?)del
NC_000014.8:g.(?_55312466)_(55313868_?)del
NC_000014.8:g.(?_55313807)_(55313858_?)del
NC_000014.8:g.(?_55332039)_(55369387_?)del
NC_000014.8:g.(?_55369019)_(55369381_?)del
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.(?_54902311)_(54902702_?)del
NM_000161.3(GCH1):c.127_130dup (p.Ala44fs) rs1595031524
NM_000161.3(GCH1):c.142C>T (p.Gln48Ter) rs104894444
NM_000161.3(GCH1):c.158G>A (p.Trp53Ter) rs2140127425
NM_000161.3(GCH1):c.185del (p.Glu62fs)
NM_000161.3(GCH1):c.186_197delinsA (p.Asp63fs) rs1555362845
NM_000161.3(GCH1):c.212del (p.Leu71fs) rs2140127278
NM_000161.3(GCH1):c.220_223del (p.Ala74fs) rs1566687321
NM_000161.3(GCH1):c.233del (p.Ile78fs)
NM_000161.3(GCH1):c.248dup (p.Glu84fs) rs1595031221
NM_000161.3(GCH1):c.250G>T (p.Glu84Ter) rs755556239
NM_000161.3(GCH1):c.278dup (p.Thr94fs) rs1555362835
NM_000161.3(GCH1):c.293C>T (p.Ala98Val) rs2040580445
NM_000161.3(GCH1):c.307C>T (p.Gln103Ter)
NM_000161.3(GCH1):c.322G>A (p.Gly108Ser) rs2140127010
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.395_396del (p.Val132fs) rs2140074097
NM_000161.3(GCH1):c.453+1G>A
NM_000161.3(GCH1):c.453+1G>C rs2140073990
NM_000161.3(GCH1):c.453+2T>G rs2140073988
NM_000161.3(GCH1):c.473del (p.Pro158fs) rs2039866628
NM_000161.3(GCH1):c.509+1_509+3delinsTGTGAG rs1594982939
NM_000161.3(GCH1):c.510-1G>A rs1555358604
NM_000161.3(GCH1):c.532A>T (p.Arg178Ter) rs1594971274
NM_000161.3(GCH1):c.532_537del (p.Arg178_Leu179del) rs2039654207
NM_000161.3(GCH1):c.539A>G (p.Gln180Arg) rs1566660298
NM_000161.3(GCH1):c.541+1G>C rs1555358599
NM_000161.3(GCH1):c.541+1G>T rs1555358599
NM_000161.3(GCH1):c.550C>T (p.Arg184Cys) rs2140041841
NM_000161.3(GCH1):c.551G>A (p.Arg184His) rs104894445
NM_000161.3(GCH1):c.578_583del (p.Ile193_Glu195delinsLys) rs2140041733
NM_000161.3(GCH1):c.601G>C (p.Gly201Arg)
NM_000161.3(GCH1):c.607G>A (p.Gly203Arg) rs988395114
NM_000161.3(GCH1):c.614T>A (p.Val205Glu) rs1418922853
NM_000161.3(GCH1):c.626+1G>A rs1555358507
NM_000161.3(GCH1):c.626+1G>T rs1555358507
NM_000161.3(GCH1):c.626+2T>C
NM_000161.3(GCH1):c.631_632del (p.Met211fs) rs886039379
NM_000161.3(GCH1):c.646C>T (p.Arg216Ter) rs41298440
NM_000161.3(GCH1):c.751T>C (p.Ter251Arg)

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