ClinVar Miner

List of variants studied for GTP-cyclohydrolase I deficiency by Invitae

Included ClinVar conditions (2):
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Total variants: 23
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HGVS dbSNP
NC_000014.9:g.(?_54902301)_(54902683_?)del
NM_000161.2(GCH1):c.119C>G (p.Pro40Arg) rs995999325
NM_000161.2(GCH1):c.186_197delGGATAACGAGCTinsA (p.Asp63Glufs) rs1555362845
NM_000161.2(GCH1):c.206C>T (p.Pro69Leu) rs56127440
NM_000161.2(GCH1):c.220_223delGCCT (p.Ala74Thrfs)
NM_000161.2(GCH1):c.230C>G (p.Ser77Cys)
NM_000161.2(GCH1):c.257C>G (p.Pro86Arg) rs1555362836
NM_000161.2(GCH1):c.281C>A (p.Thr94Lys)
NM_000161.2(GCH1):c.323G>A (p.Gly108Asp) rs104894435
NM_000161.2(GCH1):c.344-1G>A rs1555360050
NM_000161.2(GCH1):c.344-1G>C rs1555360050
NM_000161.2(GCH1):c.400G>A (p.Asp134Asn) rs1353623780
NM_000161.2(GCH1):c.462T>G (p.Ile154Met)
NM_000161.2(GCH1):c.507G>A (p.Ala169=) rs150158277
NM_000161.2(GCH1):c.509+3A>G rs369661042
NM_000161.2(GCH1):c.514G>T (p.Val172Leu)
NM_000161.2(GCH1):c.524A>T (p.Tyr175Phe)
NM_000161.2(GCH1):c.539A>G (p.Gln180Arg)
NM_000161.2(GCH1):c.614T>A (p.Val205Glu)
NM_000161.2(GCH1):c.626+1G>A rs1555358507
NM_000161.2(GCH1):c.671A>G (p.Lys224Arg) rs41298442
NM_000161.2(GCH1):c.68C>T (p.Pro23Leu) rs41298432
NM_000161.2(GCH1):c.753A>C (p.Ter251Cys) rs1555358379

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