List of variants reported as uncertain significance for GTP cyclohydrolase I deficiency with hyperphenylalaninemia by Fulgent Genetics, Fulgent Genetics

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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.-56G>A	rs866010535	0.00013
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.16G>T (p.Val6Leu)	rs1413964407

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