List of variants reported as pathogenic for GTP cyclohydrolase I deficiency with hyperphenylalaninemia

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000161.3(GCH1):c.671A>G (p.Lys224Arg)	rs41298442	0.00039
NM_000161.3(GCH1):c.551G>A (p.Arg184His)	rs104894445
NM_000161.3(GCH1):c.633G>A (p.Met211Ile)	rs104894443
NM_000317.3(PTS):c.259C>T (p.Pro87Ser)	rs104894276

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