List of variants in gene combination GCH1, LOC130055692 reported as benign 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)
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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000161.3(GCH1):c.-121T>C	rs1753589	0.96017
NM_000161.3(GCH1):c.-40C>T	rs28458175	0.05363
NM_000161.3(GCH1):c.-131C>T	rs115939621	0.04950
NM_000161.3(GCH1):c.-69G>C	rs533157442	0.00580
NM_000161.3(GCH1):c.68C>T (p.Pro23Leu)	rs41298432	0.00389
NM_000161.3(GCH1):c.69C>T (p.Pro23=)	rs767294964	0.00023
NC_000014.9:g.54902903_54902920del	rs1408430070

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