ClinVar Miner

List of variants in gene SPR studied for Dopa-responsive dystonia due to sepiapterin reductase deficiency

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Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_003124.5(SPR):c.*432G>A rs61518691 0.00729
NM_003124.5(SPR):c.785A>G (p.Ter262=) rs145082655 0.00352
NM_003124.5(SPR):c.*321G>C rs527829365 0.00121
NM_003124.5(SPR):c.305-12T>C rs192766290 0.00095
NM_003124.5(SPR):c.*108G>A rs372751802 0.00063
NM_003124.5(SPR):c.*410C>G rs886056290 0.00042
NM_003124.5(SPR):c.*575G>A rs550861892 0.00038
NM_003124.5(SPR):c.369C>T (p.Tyr123=) rs146349901 0.00021
NM_003124.5(SPR):c.654G>A (p.Met218Ile) rs150078285 0.00014
NM_003124.5(SPR):c.486A>G (p.Gln162=) rs139708286 0.00013
NM_003124.5(SPR):c.*377G>A rs912605707 0.00009
NM_003124.5(SPR):c.308C>G (p.Ser103Cys) rs748740519 0.00008
NM_003124.5(SPR):c.*50C>T rs760241473 0.00007
NM_003124.5(SPR):c.706G>A (p.Val236Met) rs371904378 0.00007
NM_003124.5(SPR):c.266C>T (p.Pro89Leu) rs760997514 0.00006
NM_003124.5(SPR):c.328G>C (p.Gly110Arg) rs201651366 0.00006
NM_003124.5(SPR):c.448A>G (p.Arg150Gly) rs104893665 0.00006
NM_003124.5(SPR):c.524C>A (p.Ala175Asp) rs1453510719 0.00006
NM_003124.5(SPR):c.751A>T (p.Lys251Ter) rs121917747 0.00006
NM_003124.5(SPR):c.*400C>T rs886056289 0.00002
NM_003124.5(SPR):c.380A>G (p.Asn127Ser) rs755878397 0.00002
NM_003124.5(SPR):c.497G>A (p.Gly166Asp) rs1404932614 0.00002
NM_003124.5(SPR):c.655C>T (p.Arg219Ter) rs779204655 0.00002
NM_003124.5(SPR):c.*233G>A rs1670625602 0.00001
NM_003124.5(SPR):c.*607A>C rs1176601691 0.00001
NM_003124.5(SPR):c.262C>T (p.Arg88Trp) rs564501639 0.00001
NM_003124.5(SPR):c.512G>A (p.Cys171Tyr) rs1670576656 0.00001
NM_003124.5(SPR):c.536T>C (p.Met179Thr) rs780440681 0.00001
NM_003124.5(SPR):c.596-2A>G rs398122922 0.00001
NM_003124.5(SPR):c.610G>C (p.Asp204His) rs1430511579 0.00001
NM_003124.5(SPR):c.616C>T (p.Gln206Ter) rs1030979700 0.00001
NM_003124.4(SPR):c.596del rs1553498582
NM_003124.5(SPR):c.*597C>A rs886056291
NM_003124.5(SPR):c.256C>T (p.Leu86Phe)
NM_003124.5(SPR):c.291_293del (p.Ile98del) rs1559048107
NM_003124.5(SPR):c.304+2_304+13del rs1670562900
NM_003124.5(SPR):c.304G>T (p.Gly102Cys) rs387907200
NM_003124.5(SPR):c.307T>C (p.Ser103Pro) rs967985144
NM_003124.5(SPR):c.355C>T (p.Gln119Ter) rs121917746
NM_003124.5(SPR):c.370T>C (p.Trp124Arg) rs761850193
NM_003124.5(SPR):c.381C>G (p.Asn127Lys) rs1366748724
NM_003124.5(SPR):c.448_452del (p.Thr151fs) rs587776777
NM_003124.5(SPR):c.477T>C (p.Cys159=) rs1670575187
NM_003124.5(SPR):c.488C>T (p.Pro163Leu) rs104893666
NM_003124.5(SPR):c.544C>T (p.Gln182Ter) rs2105241166
NM_003124.5(SPR):c.556C>G (p.Leu186Val) rs1670577308
NM_003124.5(SPR):c.560A>G (p.Glu187Gly) rs1670577442
NM_003124.5(SPR):c.595+7G>A rs1670578079
NM_003124.5(SPR):c.596-2_602del rs2105243192
NM_003124.5(SPR):c.596-4C>G rs775183662
NM_003124.5(SPR):c.631del (p.Glu211fs) rs2528319905
NM_003124.5(SPR):c.663del (p.Leu222fs)
NM_003124.5(SPR):c.715C>T (p.Gln239Ter) rs761407827

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