ClinVar Miner

List of variants in gene GCH1 reported as uncertain significance for GTP-cyclohydrolase I deficiency

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 34
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HGVS dbSNP
NM_000161.2(GCH1):c.*1010C>T rs764569623
NM_000161.2(GCH1):c.*1257C>T rs763425111
NM_000161.2(GCH1):c.*1283A>C rs886050544
NM_000161.2(GCH1):c.*1473A>G rs886050543
NM_000161.2(GCH1):c.*159_*162delAATA rs752359690
NM_000161.2(GCH1):c.*1824A>C rs754395380
NM_000161.2(GCH1):c.*1907A>G rs886050542
NM_000161.2(GCH1):c.*278C>T rs756583192
NM_000161.2(GCH1):c.*367G>A rs886050548
NM_000161.2(GCH1):c.*507C>G rs886050547
NM_000161.2(GCH1):c.*612C>T rs551381738
NM_000161.2(GCH1):c.*617A>G rs886050546
NM_000161.2(GCH1):c.*715G>T rs886050545
NM_000161.2(GCH1):c.-106G>A rs886050553
NM_000161.2(GCH1):c.-125A>C rs886050554
NM_000161.2(GCH1):c.-56G>A rs866010535
NM_000161.2(GCH1):c.-5G>C rs886050550
NM_000161.2(GCH1):c.-72C>T rs886050551
NM_000161.2(GCH1):c.-98C>T rs886050552
NM_000161.2(GCH1):c.119C>G (p.Pro40Arg) rs995999325
NM_000161.2(GCH1):c.206C>T (p.Pro69Leu) rs56127440
NM_000161.2(GCH1):c.230C>G (p.Ser77Cys)
NM_000161.2(GCH1):c.257C>G (p.Pro86Arg) rs1555362836
NM_000161.2(GCH1):c.297C>T (p.Ala99=) rs776450369
NM_000161.2(GCH1):c.400G>A (p.Asp134Asn) rs1353623780
NM_000161.2(GCH1):c.462T>G (p.Ile154Met)
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.543T>G (p.Val181=) rs765670568
NM_000161.2(GCH1):c.627-12C>T rs886050549
NM_000161.2(GCH1):c.671A>G (p.Lys224Arg) rs41298442
NM_000161.2(GCH1):c.753A>C (p.Ter251Cys) rs1555358379

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