ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 63
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HGVS dbSNP
NC_000014.8:g.(?_55326389)_(55369420_?)dup
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.(?_54902301)_(54902683_?)del
NC_000014.9:g.(?_54902311)_(54902702_?)del
NM_000161.3(GCH1):c.119C>G (p.Pro40Arg) rs995999325
NM_000161.3(GCH1):c.127_130dup (p.Ala44fs) rs1595031524
NM_000161.3(GCH1):c.13C>G (p.Pro5Ala)
NM_000161.3(GCH1):c.186_197delinsA (p.Asp63fs) rs1555362845
NM_000161.3(GCH1):c.1A>G (p.Met1Val) rs1555362907
NM_000161.3(GCH1):c.204C>T (p.Leu68=) rs557778839
NM_000161.3(GCH1):c.206C>T (p.Pro69Leu) rs56127440
NM_000161.3(GCH1):c.211C>T (p.Leu71=) rs141883031
NM_000161.3(GCH1):c.212T>C (p.Leu71Pro) rs1555362843
NM_000161.3(GCH1):c.220_223del (p.Ala74fs) rs1566687321
NM_000161.3(GCH1):c.22G>A (p.Ala8Thr) rs529381971
NM_000161.3(GCH1):c.22G>T (p.Ala8Ser)
NM_000161.3(GCH1):c.230C>G (p.Ser77Cys) rs748666093
NM_000161.3(GCH1):c.248dup (p.Glu84fs) rs1595031221
NM_000161.3(GCH1):c.250G>T (p.Glu84Ter)
NM_000161.3(GCH1):c.251A>G (p.Glu84Gly) rs1595031209
NM_000161.3(GCH1):c.257C>G (p.Pro86Arg) rs1555362836
NM_000161.3(GCH1):c.281C>A (p.Thr94Lys) rs1566687244
NM_000161.3(GCH1):c.293C>T (p.Ala98Val)
NM_000161.3(GCH1):c.297C>T (p.Ala99=) rs776450369
NM_000161.3(GCH1):c.321G>C (p.Lys107Asn) rs1375057499
NM_000161.3(GCH1):c.323G>A (p.Gly108Asp) rs104894435
NM_000161.3(GCH1):c.328C>G (p.Gln110Glu) rs748944982
NM_000161.3(GCH1):c.344-1G>A rs1555360050
NM_000161.3(GCH1):c.344-1G>C rs1555360050
NM_000161.3(GCH1):c.344-3C>G
NM_000161.3(GCH1):c.400G>A (p.Asp134Asn) rs1353623780
NM_000161.3(GCH1):c.453+6G>A
NM_000161.3(GCH1):c.462T>G (p.Ile154Met) rs1566665914
NM_000161.3(GCH1):c.473del (p.Pro158fs)
NM_000161.3(GCH1):c.507G>A (p.Ala169=) rs150158277
NM_000161.3(GCH1):c.507G>C (p.Ala169=) rs150158277
NM_000161.3(GCH1):c.509+1_509+3delinsTGTGAG rs1594982939
NM_000161.3(GCH1):c.509+3A>G rs369661042
NM_000161.3(GCH1):c.514G>T (p.Val172Leu) rs1566660315
NM_000161.3(GCH1):c.524A>T (p.Tyr175Phe) rs781250171
NM_000161.3(GCH1):c.532A>T (p.Arg178Ter) rs1594971274
NM_000161.3(GCH1):c.532_537del (p.Arg178_Leu179del)
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.593G>A (p.Arg198Gln) rs201238926
NM_000161.3(GCH1):c.607G>A (p.Gly203Arg) rs988395114
NM_000161.3(GCH1):c.610G>A (p.Val204Ile) rs200891969
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+5G>C
NM_000161.3(GCH1):c.626+9G>T rs374007793
NM_000161.3(GCH1):c.631_632del (p.Met211fs) rs886039379
NM_000161.3(GCH1):c.634T>C (p.Cys212Arg)
NM_000161.3(GCH1):c.647G>C (p.Arg216Pro)
NM_000161.3(GCH1):c.650G>T (p.Gly217Val)
NM_000161.3(GCH1):c.671A>G (p.Lys224Arg) rs41298442
NM_000161.3(GCH1):c.68C>T (p.Pro23Leu) rs41298432
NM_000161.3(GCH1):c.745A>G (p.Arg249Gly)
NM_000161.3(GCH1):c.753A>C (p.Ter251Cys) rs1555358379
NM_000161.3(GCH1):c.76del (p.Asp26fs) rs1595031674

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