ClinVar Miner

List of variants studied for Parkinson disease 17 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_018206.6(VPS35):c.*283C>A rs199765664 0.00772
NM_018206.6(VPS35):c.1145A>G (p.Lys382Arg) rs116254156 0.00480
NM_018206.6(VPS35):c.*289C>T rs145606241 0.00272
NM_018206.6(VPS35):c.2241C>T (p.Ile747=) rs140543776 0.00159
NM_018206.6(VPS35):c.*422C>A rs181198454 0.00079
NM_018206.6(VPS35):c.-35C>T rs189775907 0.00054
NM_018206.6(VPS35):c.2145A>G (p.Leu715=) rs145033509 0.00052
NM_018206.6(VPS35):c.*346G>A rs545755034 0.00029
NM_018206.6(VPS35):c.89T>A (p.Met30Lys) rs145147781 0.00024
NM_018206.6(VPS35):c.945A>T (p.Gly315=) rs144346159 0.00023
NM_018206.6(VPS35):c.*401G>A rs553790361 0.00019
NM_018206.6(VPS35):c.1268C>T (p.Pro423Leu) rs373075116 0.00012
NM_018206.6(VPS35):c.*575A>T rs768759859 0.00011
NM_018206.6(VPS35):c.*34A>G rs779980787 0.00008
NM_018206.6(VPS35):c.*617A>G rs746602580 0.00008
NM_018206.6(VPS35):c.1420C>G (p.Gln474Glu) rs370401767 0.00006
NM_018206.6(VPS35):c.1912A>T (p.Met638Leu) rs144997996 0.00006
NM_018206.6(VPS35):c.678C>T (p.Arg226=) rs376845827 0.00006
NM_018206.6(VPS35):c.*345T>G rs1006640513 0.00005
NM_018206.6(VPS35):c.*380G>A rs886052004 0.00005
NM_018206.6(VPS35):c.*276A>C rs886052009 0.00004
NM_018206.6(VPS35):c.851G>A (p.Arg284Gln) rs771276024 0.00003
NM_018206.6(VPS35):c.1317T>C (p.Tyr439=) rs187425753 0.00002
NM_018206.6(VPS35):c.1809A>T (p.Ala603=) rs142063738 0.00002
NM_018206.6(VPS35):c.648G>A (p.Leu216=) rs763697798 0.00002
NM_018206.6(VPS35):c.*354G>C rs572048744 0.00001
NM_018206.6(VPS35):c.1488T>C (p.His496=) rs776877370 0.00001
NM_018206.6(VPS35):c.2073C>T (p.His691=) rs542139125 0.00001
NM_018206.6(VPS35):c.2211+11T>C rs375273548 0.00001
NM_018206.6(VPS35):c.*161C>T rs1965892398
NM_018206.6(VPS35):c.-19C>T rs573920049
NM_018206.6(VPS35):c.-34G>A rs3743928
NM_018206.6(VPS35):c.-35C>G rs189775907
NM_018206.6(VPS35):c.1035G>A (p.Glu345=) rs563975281
NM_018206.6(VPS35):c.1525-5G>T rs1966030456
NM_018206.6(VPS35):c.1900A>G (p.Thr634Ala) rs1965927007
NM_018206.6(VPS35):c.2353G>C (p.Glu785Gln) rs1965895878
NM_018206.6(VPS35):c.505G>C (p.Asp169His) rs1434089382

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