List of variants reported as pathogenic for TH-deficient dopa-responsive dystonia

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Total variants: 20

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HGVS	dbSNP
GCH1, 1-BP DEL, 351A
NM_000161.3(GCH1):c.323G>A (p.Gly108Asp)	rs104894435
NM_000161.3(GCH1):c.595C>G (p.Pro199Ala)	rs137852633
NM_000161.3(GCH1):c.662T>C (p.Met221Thr)	rs104894434
NM_000161.3(GCH1):c.671A>G (p.Lys224Arg)	rs41298442
NM_000161.3(GCH1):c.747G>C (p.Arg249Ser)	rs104894442
NM_000360.4(TH):c.1105-24T>A	rs587776767
NM_000360.4(TH):c.1141C>A (p.Gln381Lys)	rs121917762
NM_000360.4(TH):c.1388C>T (p.Thr463Met)	rs45471299
NM_000360.4(TH):c.283del (p.Ala95fs)	rs797045111
NM_000360.4(TH):c.364C>T (p.Arg122Ter)	rs771610752
NM_000360.4(TH):c.601C>T (p.Gln201Ter)	rs1057517423
NM_000360.4(TH):c.605G>A (p.Arg202His)	rs80338892
NM_000360.4(TH):c.614T>C (p.Leu205Pro)	rs121917763
NM_000360.4(TH):c.733A>C (p.Thr245Pro)	rs28934581
NM_000360.4(TH):c.848C>T (p.Thr283Met)	rs121917764
NM_000360.4(TH):c.917G>A (p.Arg306His)	rs28934580
NM_000360.4(TH):c.983G>T (p.Cys328Phe)	rs121917765
TH, -70G-A
TH, 1-BP DEL, 291C

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