ClinVar Miner

List of variants reported as uncertain significance 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: 36
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HGVS dbSNP gnomAD frequency
NM_003719.5(PDE8B):c.*1606T>C rs565137946 0.00440
NM_003719.5(PDE8B):c.*831T>C rs538996177 0.00070
NM_003719.5(PDE8B):c.*1254T>G rs1045802081 0.00022
NM_003719.5(PDE8B):c.*1520T>C rs558413983 0.00021
NM_003719.5(PDE8B):c.*1204C>T rs573820883 0.00014
NM_003719.5(PDE8B):c.*1050T>C rs777820113 0.00013
NM_003719.5(PDE8B):c.156C>T (p.Ala52=) rs886060755 0.00013
NM_003719.5(PDE8B):c.999A>G (p.Thr333=) rs886060757 0.00013
NM_003719.5(PDE8B):c.*436C>T rs144907726 0.00009
NM_003719.5(PDE8B):c.*1150A>G rs867337066 0.00008
NM_003719.5(PDE8B):c.*1011A>G rs560626172 0.00004
NM_003719.5(PDE8B):c.280A>G (p.Arg94Gly) rs886060756 0.00003
NM_003719.5(PDE8B):c.*179G>A rs886060761 0.00002
NM_003719.5(PDE8B):c.1831T>G (p.Ser611Ala) rs201596222 0.00002
NM_003719.5(PDE8B):c.2139T>C (p.Tyr713=) rs374692260 0.00002
NM_003719.5(PDE8B):c.*445G>A rs1347915203 0.00001
NM_003719.5(PDE8B):c.*865G>A rs202157206 0.00001
NM_003719.5(PDE8B):c.125G>C (p.Gly42Ala) rs886060754 0.00001
NM_003719.5(PDE8B):c.1447C>T (p.Arg483Trp) rs1441711806 0.00001
NM_003719.5(PDE8B):c.570C>T (p.Phe190=) rs770115784 0.00001
NM_003719.5(PDE8B):c.*1139A>G rs757476371
NM_003719.5(PDE8B):c.*1304G>T rs1798423516
NM_003719.5(PDE8B):c.*287C>T rs886060762
NM_003719.5(PDE8B):c.*28C>G rs886060760
NM_003719.5(PDE8B):c.*498C>A rs1061405
NM_003719.5(PDE8B):c.*921A>G rs867519671
NM_003719.5(PDE8B):c.-19G>T rs754321620
NM_003719.5(PDE8B):c.-24C>T rs760305316
NM_003719.5(PDE8B):c.-44C>T rs1450863356
NM_003719.5(PDE8B):c.1001G>A (p.Cys334Tyr) rs973608754
NM_003719.5(PDE8B):c.1207A>G (p.Thr403Ala) rs1791984017
NM_003719.5(PDE8B):c.1211A>T (p.Glu404Val) rs1793075763
NM_003719.5(PDE8B):c.1461G>A (p.Leu487=) rs1794031371
NM_003719.5(PDE8B):c.2115C>T (p.Phe705=) rs886060758
NM_003719.5(PDE8B):c.2545G>A (p.Asp849Asn) rs886060759
NM_003719.5(PDE8B):c.52C>A (p.Arg18=) rs886060753

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