ClinVar Miner

List of variants in gene combination INS, TH reported as likely benign 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: 3
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NM_199292.3(TH):c.1293+9C>T rs11564717
NM_199292.3(TH):c.1371G>A (p.Thr457=) rs36097848
NM_199292.3(TH):c.1494C>T (p.Asp498=) rs3842724

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