ClinVar Miner

List of variants studied for TH-deficient dopa-responsive dystonia by Genome Diagnostics Laboratory,VU University Medical Center Amsterdam

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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NM_000360.4(TH):c.1200+9C>T rs11564717
NM_000360.4(TH):c.241G>A (p.Val81Met) rs6356
NM_000360.4(TH):c.267G>A (p.Arg89=) rs76240471
NM_000360.4(TH):c.720G>A (p.Lys240=) rs6357
NM_000360.4(TH):c.977+8C>G rs12419447

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