ClinVar Miner

List of variants in gene GCH1 reported as likely pathogenic for amino acid metabolism disease

Included ClinVar conditions (436):
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Gene type:
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Total variants: 23
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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.610G>A (p.Val204Ile) rs200891969 0.00009
NM_000161.3(GCH1):c.274C>A (p.Leu92Ile) rs763294577 0.00001
NC_000014.8:g.(?_55326379)_(55332174_?)dup
NM_000161.3(GCH1):c.212T>C (p.Leu71Pro) rs1555362843
NM_000161.3(GCH1):c.251A>G (p.Glu84Gly) rs1595031209
NM_000161.3(GCH1):c.268G>A (p.Gly90Arg)
NM_000161.3(GCH1):c.272T>A (p.Leu91Gln)
NM_000161.3(GCH1):c.281C>A (p.Thr94Lys) rs1566687244
NM_000161.3(GCH1):c.281C>T (p.Thr94Met) rs1566687244
NM_000161.3(GCH1):c.305T>C (p.Met102Thr) rs2140127042
NM_000161.3(GCH1):c.400G>A (p.Asp134Asn) rs1353623780
NM_000161.3(GCH1):c.478A>T (p.Lys160Ter) rs2140063480
NM_000161.3(GCH1):c.532A>G (p.Arg178Gly) rs1594971274
NM_000161.3(GCH1):c.578T>A (p.Ile193Asn) rs2140041744
NM_000161.3(GCH1):c.614T>A (p.Val205Glu) rs1418922853
NM_000161.3(GCH1):c.631A>G (p.Met211Val)
NM_000161.3(GCH1):c.632T>C (p.Met211Thr) rs1566658823
NM_000161.3(GCH1):c.644T>C (p.Met215Thr) rs2140038918
NM_000161.3(GCH1):c.673del (p.Thr225fs) rs2140038846
NM_000161.3(GCH1):c.689T>C (p.Met230Thr) rs2140038798
NM_000161.3(GCH1):c.722G>A (p.Arg241Gln)
NM_000161.3(GCH1):c.745A>G (p.Arg249Gly) rs2039600745

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