List of variants reported as pathogenic for dopa-responsive dystonia due to sepiapterin reductase deficiency by OMIM

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_003124.5(SPR):c.448A>G (p.Arg150Gly)	rs104893665	0.00006
NM_003124.5(SPR):c.751A>T (p.Lys251Ter)	rs121917747	0.00006
NM_003124.5(SPR):c.-13G>A	rs750423023	0.00004
NM_003124.5(SPR):c.596-2A>G	rs398122922	0.00001
NM_003124.5(SPR):c.304G>T (p.Gly102Cys)	rs387907200
NM_003124.5(SPR):c.355C>T (p.Gln119Ter)	rs121917746
NM_003124.5(SPR):c.448_452del (p.Thr151fs)	rs587776777
NM_003124.5(SPR):c.488C>T (p.Pro163Leu)	rs104893666

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