List of variants studied for dystonia 5 by OMIM

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Total variants: 15

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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.586G>T (p.Ala196Ser)	rs104894436	0.00004
NC_000014.9:g.(?_54842017)_(54902826_?)del
NM_000161.3(GCH1):c.142C>T (p.Gln48Ter)	rs104894444
NM_000161.3(GCH1):c.262C>T (p.Arg88Trp)	rs104894433
NM_000161.3(GCH1):c.344-2A>G	rs2140074226
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.401A>T (p.Asp134Val)	rs104894437
NM_000161.3(GCH1):c.404T>A (p.Ile135Lys)	rs104894441
NM_000161.3(GCH1):c.431A>C (p.His144Pro)	rs104894440
NM_000161.3(GCH1):c.453+1G>C	rs2140073990
NM_000161.3(GCH1):c.454-2A>G	rs2039866854
NM_000161.3(GCH1):c.602G>A (p.Gly201Glu)	rs104894438
NM_000161.3(GCH1):c.626+1G>A	rs1555358507

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