ClinVar Miner

List of variants studied for GTP-cyclohydrolase I deficiency by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 53
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HGVS dbSNP
NM_000161.2(GCH1):c.-169C>T rs538405738
NM_000161.3(GCH1):c.*1010C>T rs764569623
NM_000161.3(GCH1):c.*1056_*1057insAT rs144676716
NM_000161.3(GCH1):c.*1122A>T rs56126158
NM_000161.3(GCH1):c.*1130C>G rs543818323
NM_000161.3(GCH1):c.*1142G>A rs10151500
NM_000161.3(GCH1):c.*1176C>G rs113211390
NM_000161.3(GCH1):c.*1183C>T rs76009965
NM_000161.3(GCH1):c.*1230C>T rs56130647
NM_000161.3(GCH1):c.*1257C>T rs763425111
NM_000161.3(GCH1):c.*1283A>C rs886050544
NM_000161.3(GCH1):c.*12T>C rs190993883
NM_000161.3(GCH1):c.*1463_*1464dup rs55885280
NM_000161.3(GCH1):c.*1473A>G rs886050543
NM_000161.3(GCH1):c.*1479G>T rs533240612
NM_000161.3(GCH1):c.*155_*158AATA[1] rs752359690
NM_000161.3(GCH1):c.*1628A>C rs185031007
NM_000161.3(GCH1):c.*1719C>T rs551251353
NM_000161.3(GCH1):c.*1824A>C rs754395380
NM_000161.3(GCH1):c.*1907A>G rs886050542
NM_000161.3(GCH1):c.*1915T>C rs17128017
NM_000161.3(GCH1):c.*20C>T rs143111433
NM_000161.3(GCH1):c.*243C>T rs841
NM_000161.3(GCH1):c.*278C>T rs756583192
NM_000161.3(GCH1):c.*367G>A rs886050548
NM_000161.3(GCH1):c.*507C>G rs886050547
NM_000161.3(GCH1):c.*612C>T rs551381738
NM_000161.3(GCH1):c.*617A>G rs886050546
NM_000161.3(GCH1):c.*715G>T rs886050545
NM_000161.3(GCH1):c.*727A>G rs138578359
NM_000161.3(GCH1):c.*732A>G rs45454691
NM_000161.3(GCH1):c.*736A>G rs150176097
NM_000161.3(GCH1):c.*830A>T rs542811477
NM_000161.3(GCH1):c.*883_*885CTT[3] rs145762799
NM_000161.3(GCH1):c.-106G>A rs886050553
NM_000161.3(GCH1):c.-121T>C rs1753589
NM_000161.3(GCH1):c.-125A>C rs886050554
NM_000161.3(GCH1):c.-131C>T rs115939621
NM_000161.3(GCH1):c.-40C>T rs28458175
NM_000161.3(GCH1):c.-56G>A rs866010535
NM_000161.3(GCH1):c.-5G>C rs886050550
NM_000161.3(GCH1):c.-72C>T rs886050551
NM_000161.3(GCH1):c.-98C>T rs886050552
NM_000161.3(GCH1):c.206C>T (p.Pro69Leu) rs56127440
NM_000161.3(GCH1):c.297C>T (p.Ala99=) rs776450369
NM_000161.3(GCH1):c.507G>A (p.Ala169=) rs150158277
NM_000161.3(GCH1):c.509+8T>A rs753570450
NM_000161.3(GCH1):c.543T>G (p.Val181=) rs765670568
NM_000161.3(GCH1):c.582G>A (p.Thr194=) rs199836777
NM_000161.3(GCH1):c.626+9G>T rs374007793
NM_000161.3(GCH1):c.627-12C>T rs886050549
NM_000161.3(GCH1):c.68C>T (p.Pro23Leu) rs41298432
NM_000161.3(GCH1):c.69C>T (p.Pro23=) rs767294964

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