ClinVar Miner

List of variants in gene GCH1, LOC130055692 studied for dystonia 5

Included ClinVar conditions (3):
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Gene type:
ClinVar version:
Total variants: 61
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HGVS dbSNP gnomAD frequency
NM_000161.3(GCH1):c.-121T>C rs1753589 0.96017
NM_000161.3(GCH1):c.-40C>T rs28458175 0.05363
NM_000161.3(GCH1):c.-131C>T rs115939621 0.04950
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.69C>T (p.Pro23=) rs767294964 0.00023
NM_000161.3(GCH1):c.-56G>A rs866010535 0.00013
NM_000161.3(GCH1):c.-125A>C rs886050554 0.00006
NM_000161.3(GCH1):c.-106G>A rs886050553 0.00004
NM_000161.3(GCH1):c.83C>T (p.Pro28Leu) rs774568081 0.00002
NM_000161.3(GCH1):c.89C>G (p.Pro30Arg) rs1477733062 0.00002
NM_000161.3(GCH1):c.-5G>C rs886050550 0.00001
NM_000161.3(GCH1):c.1A>T (p.Met1Leu) rs1555362907 0.00001
NM_000161.3(GCH1):c.22G>A (p.Ala8Thr) rs529381971 0.00001
NM_000161.3(GCH1):c.42G>A (p.Arg14=) rs1248275477 0.00001
NM_000161.3(GCH1):c.59A>G (p.Asn20Ser) rs2040586742 0.00001
NC_000014.9:g.(?_54902301)_(54902683_?)del
NC_000014.9:g.54902903_54902920del rs1408430070
NM_000161.3(GCH1):c.-22C>T
NM_000161.3(GCH1):c.-72C>T rs886050551
NM_000161.3(GCH1):c.109G>T (p.Glu37Ter) rs2140127551
NM_000161.3(GCH1):c.10G>A (p.Gly4Ser)
NM_000161.3(GCH1):c.111G>A (p.Glu37=)
NM_000161.3(GCH1):c.115C>A (p.Pro39Thr) rs770932357
NM_000161.3(GCH1):c.119C>G (p.Pro40Arg) rs995999325
NM_000161.3(GCH1):c.11G>A (p.Gly4Asp) rs2140127797
NM_000161.3(GCH1):c.11del (p.Gly4fs)
NM_000161.3(GCH1):c.120G>C (p.Pro40=)
NM_000161.3(GCH1):c.12C>A (p.Gly4=)
NM_000161.3(GCH1):c.13C>G (p.Pro5Ala) rs2040587976
NM_000161.3(GCH1):c.16G>T (p.Val6Leu) rs1413964407
NM_000161.3(GCH1):c.1A>C (p.Met1Leu) rs1555362907
NM_000161.3(GCH1):c.1A>G (p.Met1Val) rs1555362907
NM_000161.3(GCH1):c.22G>C (p.Ala8Pro) rs529381971
NM_000161.3(GCH1):c.22G>T (p.Ala8Ser) rs529381971
NM_000161.3(GCH1):c.25C>T (p.Pro9Ser)
NM_000161.3(GCH1):c.27G>C (p.Pro9=) rs1361472755
NM_000161.3(GCH1):c.27G>T (p.Pro9=)
NM_000161.3(GCH1):c.30G>A (p.Ala10=)
NM_000161.3(GCH1):c.33G>A (p.Glu11=) rs2140127730
NM_000161.3(GCH1):c.39G>C (p.Pro13=)
NM_000161.3(GCH1):c.3G>C (p.Met1Ile) rs104894439
NM_000161.3(GCH1):c.3_4dup (p.Glu2fs) rs2140127822
NM_000161.3(GCH1):c.43G>A (p.Gly15Ser)
NM_000161.3(GCH1):c.49del (p.Arg17fs)
NM_000161.3(GCH1):c.66C>T (p.Phe22=)
NM_000161.3(GCH1):c.69C>G (p.Pro23=)
NM_000161.3(GCH1):c.72G>A (p.Glu24=)
NM_000161.3(GCH1):c.73C>T (p.Arg25Trp)
NM_000161.3(GCH1):c.75G>A (p.Arg25=)
NM_000161.3(GCH1):c.75G>C (p.Arg25=)
NM_000161.3(GCH1):c.76del (p.Asp26fs) rs1595031674
NM_000161.3(GCH1):c.82C>T (p.Pro28Ser)
NM_000161.3(GCH1):c.90C>G (p.Pro30=)
NM_000161.3(GCH1):c.90C>T (p.Pro30=)
NM_000161.3(GCH1):c.91G>C (p.Gly31Arg)
NM_000161.3(GCH1):c.93G>A (p.Gly31=)
NM_000161.3(GCH1):c.93G>T (p.Gly31=)
NM_000161.3(GCH1):c.96C>G (p.Pro32=)
NM_000161.3(GCH1):c.96C>T (p.Pro32=)
NM_000161.3(GCH1):c.97A>T (p.Ser33Cys) rs1373130817

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