ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 29
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HGVS dbSNP
NM_000360.3(TH):c.-71C>T rs549435434
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.1282C>T (p.Gln428Ter) rs786204540
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.1400A>G (p.Asp467Gly) rs771351747
NM_000360.4(TH):c.203del (p.Leu68fs) rs1554923852
NM_000360.4(TH):c.278_296dup (p.Val100fs) rs1554923810
NM_000360.4(TH):c.292C>T (p.Arg98Ter) rs1057519220
NM_000360.4(TH):c.2T>C (p.Met1Thr) rs201932766
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.614T>C (p.Leu205Pro) rs121917763
NM_000360.4(TH):c.644+1G>A rs1266265578
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.850G>A (p.Gly284Ser) rs1288483479
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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