ClinVar Miner

List of variants studied for TH-deficient dopa-responsive dystonia by OMIM

Included ClinVar conditions (2):
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Total variants: 17
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GCH1, 1-BP DEL, 351A
NM_000161.3(GCH1):c.323G>A (p.Gly108Asp) rs104894435
NM_000161.3(GCH1):c.595C>G (p.Pro199Ala) rs137852633
NM_000161.3(GCH1):c.662T>C (p.Met221Thr) rs104894434
NM_000161.3(GCH1):c.671A>G (p.Lys224Arg) rs41298442
NM_000161.3(GCH1):c.747G>C (p.Arg249Ser) rs104894442
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.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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