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

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Total variants: 29

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HGVS	dbSNP	gnomAD frequency
NM_000360.4(TH):c.1400A>G (p.Asp467Gly)	rs771351747	0.00003
NM_000360.4(TH):c.292C>T (p.Arg98Ter)	rs1057519220	0.00002
NM_000360.4(TH):c.644+1G>A	rs1266265578	0.00002
NM_199292.3(TH):c.-71C>T	rs549435434	0.00002
NM_000360.4(TH):c.1282C>T (p.Gln428Ter)	rs786204540	0.00001
NM_000360.4(TH):c.203del (p.Leu68fs)	rs1554923852	0.00001
NM_000360.4(TH):c.2T>C (p.Met1Thr)	rs201932766	0.00001
NM_000360.4(TH):c.614T>C (p.Leu205Pro)	rs121917763	0.00001
NM_000360.4(TH):c.850G>A (p.Gly284Ser)	rs1288483479	0.00001
NM_000360.4(TH):c.1104+1G>A	rs1057516819
NM_000360.4(TH):c.1176_1180del (p.Ser394fs)	rs1554922593
NM_000360.4(TH):c.1266C>A (p.Tyr422Ter)	rs1554922441
NM_000360.4(TH):c.1282del (p.Gln428fs)	rs1554922434
NM_000360.4(TH):c.12_43del (p.Asp5fs)	rs1554924357
NM_000360.4(TH):c.12dup (p.Asp5fs)	rs1057516716
NM_000360.4(TH):c.278_296dup (p.Val100fs)	rs1554923810
NM_000360.4(TH):c.312+1G>A	rs1554923802
NM_000360.4(TH):c.487+1G>A	rs1554923513
NM_000360.4(TH):c.487+1G>C	rs1554923513
NM_000360.4(TH):c.487+2T>C	rs1057517003
NM_000360.4(TH):c.644+2T>A	rs1554923317
NM_000360.4(TH):c.644_644+15del	rs1554923305
NM_000360.4(TH):c.696-2A>G	rs1554923121
NM_000360.4(TH):c.717del (p.Lys240fs)	rs1057516712
NM_000360.4(TH):c.845dup (p.Thr283fs)	rs1554923004
NM_000360.4(TH):c.91-9_107del	rs1057516874
NM_000360.4(TH):c.921del (p.Phe308fs)	rs1057516491
NM_000360.4(TH):c.977+1G>A	rs1057516736
NM_000360.4(TH):c.997del (p.Leu333fs)	rs1057517162

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