ClinVar Miner

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

Included ClinVar conditions (2):
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Total variants: 20
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HGVS dbSNP
GCH1, 1-BP DEL, 351A
NM_000161.2(GCH1):c.323G>A (p.Gly108Asp) rs104894435
NM_000161.2(GCH1):c.595C>G (p.Pro199Ala) rs137852633
NM_000161.2(GCH1):c.662T>C (p.Met221Thr) rs104894434
NM_000161.2(GCH1):c.671A>G (p.Lys224Arg) rs41298442
NM_000161.2(GCH1):c.747G>C (p.Arg249Ser) rs104894442
NM_000360.3(TH):c.283delG (p.Ala95Argfs) rs797045111
NM_000360.3(TH):c.601C>T (p.Gln201Ter) rs1057517423
NM_199292.2(TH):c.1010G>A (p.Arg337His) rs28934580
NM_199292.2(TH):c.1076G>T (p.Cys359Phe) rs121917765
NM_199292.2(TH):c.1198-24T>A rs587776767
NM_199292.2(TH):c.1234C>A (p.Gln412Lys) rs121917762
NM_199292.2(TH):c.1481C>T (p.Thr494Met) rs45471299
NM_199292.2(TH):c.457C>T (p.Arg153Ter) rs771610752
NM_199292.2(TH):c.698G>A (p.Arg233His) rs80338892
NM_199292.2(TH):c.707T>C (p.Leu236Pro) rs121917763
NM_199292.2(TH):c.826A>C (p.Thr276Pro) rs28934581
NM_199292.2(TH):c.941C>T (p.Thr314Met) rs121917764
TH, -70G-A
TH, 1-BP DEL, 291C

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