ClinVar Miner

List of variants reported as uncertain significance for TH-deficient dopa-responsive dystonia by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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NM_000360.4(TH):c.406G>A (p.Val136Met) rs142046543
NM_000360.4(TH):c.452T>C (p.Val151Ala) rs147569564
NM_000360.4(TH):c.585G>A (p.Ser195=) rs376615793
NM_000360.4(TH):c.679G>A (p.Glu227Lys) rs536382000

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