List of variants in gene combination GCH1, LOC130055692 reported as pathogenic for dystonia 5

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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: 10

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HGVS	dbSNP	gnomAD frequency
NM_000161.3(GCH1):c.1A>T (p.Met1Leu)	rs1555362907	0.00001
NC_000014.9:g.(?_54902301)_(54902683_?)del
NM_000161.3(GCH1):c.-22C>T
NM_000161.3(GCH1):c.109G>T (p.Glu37Ter)	rs2140127551
NM_000161.3(GCH1):c.1A>C (p.Met1Leu)	rs1555362907
NM_000161.3(GCH1):c.1A>G (p.Met1Val)	rs1555362907
NM_000161.3(GCH1):c.3G>C (p.Met1Ile)	rs104894439
NM_000161.3(GCH1):c.3_4dup (p.Glu2fs)	rs2140127822
NM_000161.3(GCH1):c.49del (p.Arg17fs)
NM_000161.3(GCH1):c.76del (p.Asp26fs)	rs1595031674

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