ClinVar Miner

List of variants reported as uncertain significance for Parkinson disease 17

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Total variants: 67
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HGVS dbSNP gnomAD frequency
NM_018206.6(VPS35):c.*283C>A rs199765664 0.00772
NM_018206.6(VPS35):c.89T>A (p.Met30Lys) rs145147781 0.00024
NM_018206.6(VPS35):c.*401G>A rs553790361 0.00019
NM_018206.6(VPS35):c.*575A>T rs768759859 0.00011
NM_018206.6(VPS35):c.946C>T (p.Pro316Ser) rs770029606 0.00009
NM_018206.6(VPS35):c.*617A>G rs746602580 0.00008
NM_018206.6(VPS35):c.1151A>G (p.Asn384Ser) rs762573165 0.00007
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.*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.110A>G (p.Asn37Ser) rs777006799 0.00004
NM_018206.6(VPS35):c.1142A>G (p.Asn381Ser) rs754978683 0.00004
NM_018206.6(VPS35):c.1495C>T (p.Arg499Cys) rs747325352 0.00003
NM_018206.6(VPS35):c.506+4A>C rs760012192 0.00003
NM_018206.6(VPS35):c.851G>A (p.Arg284Gln) rs771276024 0.00003
NM_018206.6(VPS35):c.1809A>T (p.Ala603=) rs142063738 0.00002
NM_018206.6(VPS35):c.2210C>T (p.Ala737Val) rs749516404 0.00002
NM_018206.6(VPS35):c.2339G>A (p.Arg780Gln) rs910938026 0.00002
NM_018206.6(VPS35):c.648G>A (p.Leu216=) rs763697798 0.00002
NM_018206.6(VPS35):c.1262T>A (p.Phe421Tyr) rs375087873 0.00001
NM_018206.6(VPS35):c.1313G>A (p.Cys438Tyr) rs745893720 0.00001
NM_018206.6(VPS35):c.1488T>C (p.His496=) rs776877370 0.00001
NM_018206.6(VPS35):c.1895T>C (p.Ile632Thr) rs756550058 0.00001
NM_018206.6(VPS35):c.2073C>T (p.His691=) rs542139125 0.00001
NM_018206.6(VPS35):c.2074G>A (p.Gly692Arg) rs1247681468 0.00001
NM_018206.6(VPS35):c.2211+11T>C rs375273548 0.00001
NC_000016.9:g.(?_46694384)_(46782105_?)dup
NM_018206.6(VPS35):c.*161C>T rs1965892398
NM_018206.6(VPS35):c.-19C>T rs573920049
NM_018206.6(VPS35):c.-35C>G rs189775907
NM_018206.6(VPS35):c.102+4A>G
NM_018206.6(VPS35):c.1035G>A (p.Glu345=) rs563975281
NM_018206.6(VPS35):c.106A>G (p.Lys36Glu)
NM_018206.6(VPS35):c.1120G>A (p.Glu374Lys)
NM_018206.6(VPS35):c.1226dup (p.Tyr409Ter)
NM_018206.6(VPS35):c.1277A>C (p.Glu426Ala)
NM_018206.6(VPS35):c.1291_1292delinsTT (p.Glu431Leu)
NM_018206.6(VPS35):c.1304G>A (p.Ser435Asn)
NM_018206.6(VPS35):c.1331T>C (p.Val444Ala)
NM_018206.6(VPS35):c.1391T>C (p.Val464Ala) rs1555465774
NM_018206.6(VPS35):c.13C>T (p.Gln5Ter) rs2143009092
NM_018206.6(VPS35):c.1427T>C (p.Val476Ala)
NM_018206.6(VPS35):c.1477C>T (p.Arg493Cys)
NM_018206.6(VPS35):c.1480T>A (p.Phe494Ile) rs141253289
NM_018206.6(VPS35):c.1525-5G>T rs1966030456
NM_018206.6(VPS35):c.1537G>C (p.Ala513Pro)
NM_018206.6(VPS35):c.1538C>A (p.Ala513Glu)
NM_018206.6(VPS35):c.1541G>A (p.Arg514Gln)
NM_018206.6(VPS35):c.1550T>G (p.Phe517Cys) rs1567264486
NM_018206.6(VPS35):c.1586T>A (p.Leu529Gln)
NM_018206.6(VPS35):c.1642A>G (p.Lys548Glu)
NM_018206.6(VPS35):c.1795C>G (p.His599Asp)
NM_018206.6(VPS35):c.1804G>A (p.Val602Ile) rs896243488
NM_018206.6(VPS35):c.1900A>G (p.Thr634Ala) rs1965927007
NM_018206.6(VPS35):c.2060G>A (p.Gly687Glu) rs2143005842
NM_018206.6(VPS35):c.2295G>C (p.Gln765His)
NM_018206.6(VPS35):c.2350C>A (p.Pro784Thr) rs1965895979
NM_018206.6(VPS35):c.2353G>C (p.Glu785Gln) rs1965895878
NM_018206.6(VPS35):c.340G>A (p.Val114Ile)
NM_018206.6(VPS35):c.505G>C (p.Asp169His) rs1434089382
NM_018206.6(VPS35):c.755A>G (p.Asn252Ser)
NM_018206.6(VPS35):c.883G>A (p.Val295Met)
NM_018206.6(VPS35):c.935G>T (p.Arg312Leu)
NM_018206.6(VPS35):c.977A>T (p.Asp326Val) rs2143007770
NM_018206.6(VPS35):c.993G>T (p.Gln331His) rs1483697832

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