ClinVar Miner

List of variants reported as likely benign for autosomal dominant striatal neurodegeneration type 1 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_003719.5(PDE8B):c.*1265G>A rs138511945 0.00085
NM_003719.5(PDE8B):c.*30G>A rs201812762 0.00015
NM_003719.5(PDE8B):c.1317G>A (p.Pro439=) rs754763694 0.00010
NM_003719.5(PDE8B):c.1107-6T>A rs367814038 0.00005
NM_003719.5(PDE8B):c.2343C>T (p.Asp781=) rs558853134 0.00004
NM_003719.5(PDE8B):c.796C>T (p.Arg266Trp) rs375768747 0.00003
NM_003719.5(PDE8B):c.1881C>T (p.Thr627=) rs143919281 0.00002
NM_003719.5(PDE8B):c.876+15C>T rs756229238 0.00002

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