List of variants in gene GCH1 reported as likely pathogenic for Dystonia 5; GTP cyclohydrolase I deficiency

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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: 13

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HGVS	dbSNP	gnomAD frequency
NC_000014.8:g.(?_55326379)_(55332174_?)dup
NM_000161.3(GCH1):c.212T>C (p.Leu71Pro)	rs1555362843
NM_000161.3(GCH1):c.251A>G (p.Glu84Gly)	rs1595031209
NM_000161.3(GCH1):c.268G>A (p.Gly90Arg)
NM_000161.3(GCH1):c.272T>A (p.Leu91Gln)
NM_000161.3(GCH1):c.281C>A (p.Thr94Lys)	rs1566687244
NM_000161.3(GCH1):c.281C>T (p.Thr94Met)	rs1566687244
NM_000161.3(GCH1):c.400G>A (p.Asp134Asn)	rs1353623780
NM_000161.3(GCH1):c.532A>G (p.Arg178Gly)	rs1594971274
NM_000161.3(GCH1):c.578T>A (p.Ile193Asn)	rs2140041744
NM_000161.3(GCH1):c.631A>G (p.Met211Val)
NM_000161.3(GCH1):c.673del (p.Thr225fs)	rs2140038846
NM_000161.3(GCH1):c.722G>A (p.Arg241Gln)

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