ClinVar Miner

List of variants in gene GCH1 reported by OMIM

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Total variants: 20
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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.586G>T (p.Ala196Ser) rs104894436 0.00010
NM_000161.3(GCH1):c.662T>C (p.Met221Thr) rs104894434 0.00002
NC_000014.9:(?_54842017)_(54902826_?)del
NM_000161.3(GCH1):c.142C>T (p.Gln48Ter) rs104894444
NM_000161.3(GCH1):c.262C>T (p.Arg88Trp) rs104894433
NM_000161.3(GCH1):c.323G>A (p.Gly108Asp) rs104894435
NM_000161.3(GCH1):c.344-2A>G rs2140074226
NM_000161.3(GCH1):c.353del (p.Asn118fs) rs2140074192
NM_000161.3(GCH1):c.401A>T (p.Asp134Val) rs104894437
NM_000161.3(GCH1):c.404T>A (p.Ile135Lys) rs104894441
NM_000161.3(GCH1):c.431A>C (p.His144Pro) rs104894440
NM_000161.3(GCH1):c.453+1G>C rs2140073990
NM_000161.3(GCH1):c.454-2A>G rs2039866854
NM_000161.3(GCH1):c.551G>A (p.Arg184His) rs104894445
NM_000161.3(GCH1):c.595C>G (p.Pro199Ala) rs137852633
NM_000161.3(GCH1):c.602G>A (p.Gly201Glu) rs104894438
NM_000161.3(GCH1):c.626+1G>A rs1555358507
NM_000161.3(GCH1):c.633G>A (p.Met211Ile) rs104894443
NM_000161.3(GCH1):c.747G>C (p.Arg249Ser) rs104894442

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