List of variants in gene GCH1 reported as pathogenic for Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 6

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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.662T>C (p.Met221Thr)	rs104894434	0.00002
NM_000161.3(GCH1):c.323G>A (p.Gly108Asp)	rs104894435
NM_000161.3(GCH1):c.353del (p.Asn118fs)	rs2140074192
NM_000161.3(GCH1):c.595C>G (p.Pro199Ala)	rs137852633
NM_000161.3(GCH1):c.747G>C (p.Arg249Ser)	rs104894442

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