ClinVar Miner

List of variants in gene TH reported as pathogenic for TH-deficient dopa-responsive dystonia

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP
NM_000360.4(TH):c.1105-24T>A rs587776767
NM_000360.4(TH):c.1141C>A (p.Gln381Lys) rs121917762
NM_000360.4(TH):c.1388C>T (p.Thr463Met) rs45471299
NM_000360.4(TH):c.283del (p.Ala95fs) rs797045111
NM_000360.4(TH):c.364C>T (p.Arg122Ter) rs771610752
NM_000360.4(TH):c.601C>T (p.Gln201Ter) rs1057517423
NM_000360.4(TH):c.605G>A (p.Arg202His) rs80338892
NM_000360.4(TH):c.614T>C (p.Leu205Pro) rs121917763
NM_000360.4(TH):c.733A>C (p.Thr245Pro) rs28934581
NM_000360.4(TH):c.848C>T (p.Thr283Met) rs121917764
NM_000360.4(TH):c.917G>A (p.Arg306His) rs28934580
NM_000360.4(TH):c.983G>T (p.Cys328Phe) rs121917765
TH, -70G-A
TH, 1-BP DEL, 291C

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