ClinVar Miner

List of variants reported as likely benign for TH-deficient dopa-responsive dystonia by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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NM_000207.3(INS):c.-9C>T rs5505
NM_000207.3(INS):c.36G>A (p.Ala12=) rs3842744
NM_000360.4(TH):c.1035G>T (p.Ala345=) rs11826260
NM_000360.4(TH):c.1278G>A (p.Thr426=) rs36097848
NM_000360.4(TH):c.1401C>T (p.Asp467=) rs3842724
NM_000360.4(TH):c.186G>A (p.Ser62=) rs34510659
NM_000360.4(TH):c.210T>C (p.Ala70=) rs7950050
NM_000360.4(TH):c.267G>A (p.Arg89=) rs76240471

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