List of variants studied for Autosomal recessive DOPA responsive dystonia by Genome-Nilou Lab

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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_000360.4(TH):c.695+99G>A	rs7925924	0.91244
NM_000360.4(TH):c.696-126C>G	rs7942881	0.91226
NM_000360.4(TH):c.1105-78A>G	rs6578990	0.90803
NM_000360.4(TH):c.91-54A>G	rs7925375	0.68900
NM_000360.4(TH):c.577-22C>T	rs4074905	0.62210
NM_000360.4(TH):c.1334+127T>C	rs2070762	0.42406
NM_000360.4(TH):c.241G>A (p.Val81Met)	rs6356	0.31555
NM_000360.4(TH):c.977+8C>G	rs12419447	0.27597
NM_000360.4(TH):c.720G>A (p.Lys240=)	rs6357	0.23916
NM_000360.4(TH):c.313-88G>A	rs4930043	0.22682
NM_000360.4(TH):c.487+3G>A	rs11042950	0.00795
NM_000360.4(TH):c.267G>A (p.Arg89=)	rs76240471	0.00359
NM_000360.4(TH):c.51C>T (p.Ala17=)	rs199645400	0.00009
NM_000360.4(TH):c.599G>A (p.Arg200His)	rs201224335	0.00004
NM_000360.4(TH):c.794G>A (p.Arg265Gln)	rs199961079	0.00004
NM_000360.4(TH):c.1002del (p.His335fs)	rs2133692304
NM_000360.4(TH):c.1048-110A>C	rs4072823
NM_000360.4(TH):c.696-138G>A	rs7925784

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