ClinVar Miner

List of variants in gene GCH1 studied for GTP cyclohydrolase I deficiency with hyperphenylalaninemia

Included ClinVar conditions (2):
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000161.3(GCH1):c.*1628A>C rs185031007 0.00106
NM_000161.3(GCH1):c.*1033C>T rs867220379 0.00015
NM_000161.3(GCH1):c.328C>G (p.Gln110Glu) rs748944982 0.00009
NM_000161.3(GCH1):c.*34C>T rs757193609 0.00002
NM_000161.3(GCH1):c.299C>T (p.Ser100Leu) rs527416949 0.00002
NM_000161.3(GCH1):c.514G>A (p.Val172Ile) rs1566660315
NM_000161.3(GCH1):c.644T>C (p.Met215Thr) rs2140038918

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