ClinVar Miner

List of variants studied for synucleinopathy by Illumina Laboratory Services, Illumina

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 88
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HGVS dbSNP gnomAD frequency
NM_003719.5(PDE8B):c.1764A>G (p.Glu588=) rs335614 0.70706
NM_003719.5(PDE8B):c.*64G>A rs40594 0.61909
NM_003719.5(PDE8B):c.*512T>C rs460267 0.45685
NM_003719.5(PDE8B):c.*516A>G rs459366 0.23685
NM_003719.5(PDE8B):c.*63C>T rs62362531 0.11095
NM_003719.5(PDE8B):c.*456A>G rs16874261 0.06538
NM_003719.5(PDE8B):c.*70C>T rs78676901 0.03231
NM_003719.5(PDE8B):c.1366-5G>A rs79008179 0.02537
NM_003719.5(PDE8B):c.*480T>G rs72769019 0.01962
NM_003719.5(PDE8B):c.*437A>G rs3733953 0.01915
NM_003719.5(PDE8B):c.*1128A>G rs55841084 0.01768
NM_003719.5(PDE8B):c.552T>C (p.His184=) rs971647 0.01569
NM_003719.5(PDE8B):c.1267A>G (p.Ile423Val) rs61999348 0.01007
NM_003719.5(PDE8B):c.362G>A (p.Arg121His) rs115599001 0.00904
NM_003719.5(PDE8B):c.*1590T>A rs1580 0.00565
NM_003719.5(PDE8B):c.*1606T>C rs565137946 0.00440
NM_003719.5(PDE8B):c.63C>T (p.Asp21=) rs201411330 0.00439
NM_003719.5(PDE8B):c.2274C>T (p.Cys758=) rs116781254 0.00318
NM_003719.5(PDE8B):c.-23G>T rs574193520 0.00249
NM_003719.5(PDE8B):c.1698C>A (p.Ala566=) rs140381860 0.00242
NM_003719.5(PDE8B):c.*1213C>T rs187090647 0.00140
NM_003719.5(PDE8B):c.1152T>C (p.Thr384=) rs114017128 0.00115
NM_003719.5(PDE8B):c.*1265G>A rs138511945 0.00085
NM_003719.5(PDE8B):c.*439C>T rs564968394 0.00083
NM_003719.5(PDE8B):c.2622A>G (p.Leu874=) rs61735409 0.00081
NM_003719.5(PDE8B):c.672G>A (p.Ala224=) rs138641918 0.00078
NM_003719.5(PDE8B):c.*1575G>A rs146195825 0.00076
NM_003719.5(PDE8B):c.*831T>C rs538996177 0.00070
NM_003719.5(PDE8B):c.2145G>A (p.Thr715=) rs112049153 0.00058
NM_003719.5(PDE8B):c.1309C>T (p.Arg437Cys) rs201363586 0.00053
NM_003719.5(PDE8B):c.*741A>T rs189940792 0.00044
NM_003719.5(PDE8B):c.2055G>A (p.Glu685=) rs146449408 0.00043
NM_003719.5(PDE8B):c.2263G>A (p.Asp755Asn) rs116027371 0.00034
NM_003719.5(PDE8B):c.435C>T (p.Ser145=) rs76299136 0.00031
NM_003719.5(PDE8B):c.591-7A>G rs200516880 0.00026
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.*341C>T rs559578439 0.00018
NM_003719.5(PDE8B):c.*30G>A rs201812762 0.00015
NM_003719.5(PDE8B):c.400-7G>T rs201875450 0.00015
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.*57C>T rs566925510 0.00011
NM_003719.5(PDE8B):c.*648T>G rs184498073 0.00011
NM_003719.5(PDE8B):c.1299G>A (p.Leu433=) rs376289812 0.00010
NM_003719.5(PDE8B):c.1317G>A (p.Pro439=) rs754763694 0.00010
NM_003719.5(PDE8B):c.2235G>A (p.Lys745=) rs774632534 0.00010
NM_003719.5(PDE8B):c.*436C>T rs144907726 0.00009
NM_003719.5(PDE8B):c.*496A>G rs369658924 0.00009
NM_003719.5(PDE8B):c.*1150A>G rs867337066 0.00008
NM_003719.5(PDE8B):c.2130G>A (p.Arg710=) rs186052720 0.00006
NM_003719.5(PDE8B):c.1107-6T>A rs367814038 0.00005
NM_003719.5(PDE8B):c.*1011A>G rs560626172 0.00004
NM_003719.5(PDE8B):c.2343C>T (p.Asp781=) rs558853134 0.00004
NM_003719.5(PDE8B):c.280A>G (p.Arg94Gly) rs886060756 0.00004
NM_003719.5(PDE8B):c.796C>T (p.Arg266Trp) rs375768747 0.00003
NM_003719.5(PDE8B):c.*179G>A rs886060761 0.00002
NM_003719.5(PDE8B):c.1560G>A (p.Glu520=) rs199820842 0.00002
NM_003719.5(PDE8B):c.1831T>G (p.Ser611Ala) rs201596222 0.00002
NM_003719.5(PDE8B):c.1881C>T (p.Thr627=) rs143919281 0.00002
NM_003719.5(PDE8B):c.1921G>A (p.Asp641Asn) rs539447103 0.00002
NM_003719.5(PDE8B):c.2139T>C (p.Tyr713=) rs374692260 0.00002
NM_003719.5(PDE8B):c.593C>T (p.Ser198Leu) rs377536938 0.00002
NM_003719.5(PDE8B):c.876+15C>T rs756229238 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
NM_003719.5(PDE8B):c.858C>T (p.Ser286=) rs575049091

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