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

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_000360.4(TH):c.605G>A (p.Arg202His)	rs80338892	0.00014
NM_000360.4(TH):c.1388C>T (p.Thr463Met)	rs45471299	0.00002
NM_000360.4(TH):c.1141C>A (p.Gln381Lys)	rs121917762	0.00001
NM_000360.4(TH):c.614T>C (p.Leu205Pro)	rs121917763	0.00001
NM_000360.4(TH):c.733A>C (p.Thr245Pro)	rs28934581	0.00001
NM_000360.4(TH):c.848C>T (p.Thr283Met)	rs121917764	0.00001
NM_000360.4(TH):c.1105-24T>A	rs587776767
NM_000360.4(TH):c.202del (p.Leu68fs)
NM_000360.4(TH):c.917G>A (p.Arg306His)	rs28934580
NM_000360.4(TH):c.983G>T (p.Cys328Phe)	rs121917765
NM_199292.2(TH):c.-70G>A	rs1372180906

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