ClinVar Miner

List of variants reported as uncertain significance 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: 22
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HGVS dbSNP
NM_000161.3(GCH1):c.*1010C>T rs764569623
NM_000161.3(GCH1):c.*1257C>T rs763425111
NM_000161.3(GCH1):c.*1283A>C rs886050544
NM_000161.3(GCH1):c.*1473A>G rs886050543
NM_000161.3(GCH1):c.*155_*158AATA[1] rs752359690
NM_000161.3(GCH1):c.*1824A>C rs754395380
NM_000161.3(GCH1):c.*1907A>G rs886050542
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.-106G>A rs886050553
NM_000161.3(GCH1):c.-125A>C rs886050554
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.297C>T (p.Ala99=) rs776450369
NM_000161.3(GCH1):c.543T>G (p.Val181=) rs765670568
NM_000161.3(GCH1):c.627-12C>T rs886050549

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