ClinVar Miner

List of variants reported as pathogenic for Parkinson disease by OMIM

Included ClinVar conditions (32):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 89
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HGVS dbSNP
ATP13A2, 1-BP DEL, 3057C
ATP13A2, 22-BP DUP
NM_000345.4(SNCA):c.150T>G (p.His50Gln) rs201106962
NM_000345.4(SNCA):c.152G>A (p.Gly51Asp) rs431905511
NM_000345.4(SNCA):c.157G>A (p.Ala53Thr) rs104893877
NM_000345.4(SNCA):c.88G>C (p.Ala30Pro) rs104893878
NM_001256864.2(DNAJC6):c.2223A>T (p.Thr741=) rs879255554
NM_001256864.2(DNAJC6):c.2536C>T (p.Gln846Ter) rs886039854
NM_001256864.2(DNAJC6):c.2779A>G (p.Arg927Gly) rs879255630
NM_001256864.2(DNAJC6):c.801-2A>G rs398122404
NM_001256865.1(DNAJC6):c.2200C>T (p.Gln734Ter) rs398122405
NM_001320327.1(CHCHD2):c.182C>T (p.Thr61Ile) rs864309650
NM_001320327.1(CHCHD2):c.300+5G>A rs750014782
NM_001320327.1(CHCHD2):c.434G>A (p.Arg145Gln) rs752169833
NM_003560.4(PLA2G6):c.1354C>T (p.Gln452Ter) rs387906864
NM_003560.4(PLA2G6):c.1904G>A (p.Arg635Gln) rs387906863
NM_003560.4(PLA2G6):c.216C>A (p.Phe72Leu)
NM_003560.4(PLA2G6):c.2222G>A (p.Arg741Gln) rs121908686
NM_003560.4(PLA2G6):c.2239C>T (p.Arg747Trp) rs121908687
NM_003560.4(PLA2G6):c.991G>T (p.Asp331Tyr) rs199935023
NM_003895.3(SYNJ1):c.1376G>C (p.Arg459Pro) rs1060499619
NM_004562.2(PRKN):c.172-?_871+?del
NM_004562.2(PRKN):c.413-?_534+?del
NM_004562.2(PRKN):c.735-?_871+?del
NM_004562.2(PRKN):c.8-?_171+?del
NM_004562.2(PRKN):c.872-?_1083+?del
NM_004562.3(PRKN):c.1292G>T (p.Cys431Phe) rs397514694
NM_004562.3(PRKN):c.1358G>A (p.Trp453Ter) rs137853056
NM_004562.3(PRKN):c.167T>A (p.Val56Glu) rs137853059
NM_004562.3(PRKN):c.245C>A (p.Ala82Glu) rs55774500
NM_004562.3(PRKN):c.483A>T (p.Lys161Asn) rs137853057
NM_004562.3(PRKN):c.633A>T (p.Lys211Asn) rs137853060
NM_004562.3(PRKN):c.635G>A (p.Cys212Tyr) rs137853058
NM_004562.3(PRKN):c.7+1G>T rs397518439
NM_004562.3(PRKN):c.719C>G (p.Thr240Arg) rs137853054
NM_004562.3(PRKN):c.719C>T (p.Thr240Met) rs137853054
NM_004562.3(PRKN):c.823C>T (p.Arg275Trp) rs34424986
NM_004562.3(PRKN):c.931C>T (p.Gln311Ter) rs137853055
NM_005216.4(DDOST):c.*807_*5409del
NM_007262.4(PARK7):c.[-24+75_-24+92dup;487G>A]
NM_007262.5(PARK7):c.192G>C (p.Glu64Asp) rs74315353
NM_007262.5(PARK7):c.446A>C (p.Asp149Ala) rs74315352
NM_007262.5(PARK7):c.497T>C (p.Leu166Pro) rs28938172
NM_007262.5(PARK7):c.78G>A (p.Met26Ile) rs74315351
NM_012084.4(GLUD2):c.1492T>G (p.Ser498Ala) rs9697983
NM_012179.4(FBXO7):c.1132C>G (p.Arg378Gly) rs71799110
NM_012179.4(FBXO7):c.1144+1G>T rs730880272
NM_012179.4(FBXO7):c.1492C>T (p.Arg498Ter) rs121918304
NM_012179.4(FBXO7):c.65C>T (p.Thr22Met) rs121918305
NM_018206.6(VPS35):c.1858G>A (p.Asp620Asn) rs188286943
NM_020821.3(VPS13C):c.4165G>C (p.Gly1389Arg) rs369100678
NM_020821.3(VPS13C):c.4777del (p.Gln1593fs) rs869312811
NM_020821.3(VPS13C):c.802_805dup (p.Arg269fs) rs869320761
NM_020821.3(VPS13C):c.8445+2T>G rs869312809
NM_020821.3(VPS13C):c.9568G>T (p.Glu3190Ter) rs869312810
NM_022089.4(ATP13A2):c.1099_1100GA[3] (p.Thr368fs) rs762033589
NM_022089.4(ATP13A2):c.1306+5G>A rs786205056
NM_022089.4(ATP13A2):c.1510G>C (p.Gly504Arg) rs121918227
NM_022089.4(ATP13A2):c.2552_2553del (p.Phe851fs) rs587776890
NM_022089.4(ATP13A2):c.2561T>G (p.Met854Arg) rs587777053
NM_022089.4(ATP13A2):c.2629G>A (p.Gly877Arg) rs144701072
NM_032409.3(PINK1):c.1040T>C (p.Leu347Pro) rs28940285
NM_032409.3(PINK1):c.1311G>A (p.Trp437Ter) rs74315356
NM_032409.3(PINK1):c.1366C>T (p.Gln456Ter) rs45539432
NM_032409.3(PINK1):c.1570_1573dup (p.Asp525fs) rs730880302
NM_032409.3(PINK1):c.1597_1599CAA[3] (p.Gln534dup) rs750664040
NM_032409.3(PINK1):c.650C>A (p.Ala217Asp) rs74315360
NM_032409.3(PINK1):c.736C>T (p.Arg246Ter) rs74315357
NM_032409.3(PINK1):c.813C>A (p.His271Gln) rs28940284
NM_032409.3(PINK1):c.836G>A (p.Arg279His) rs74315358
NM_032409.3(PINK1):c.926G>A (p.Gly309Asp) rs74315355
NM_032409.3(PINK1):c.938C>T (p.Thr313Met) rs74315359
NM_198578.4(LRRK2):c.3364A>G (p.Ile1122Val) rs34805604
NM_198578.4(LRRK2):c.4321C>G (p.Arg1441Gly) rs33939927
NM_198578.4(LRRK2):c.4321C>T (p.Arg1441Cys) rs33939927
NM_198578.4(LRRK2):c.4322G>A (p.Arg1441His) rs34995376
NM_198578.4(LRRK2):c.5096A>G (p.Tyr1699Cys) rs35801418
NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser) rs34637584
NM_198578.4(LRRK2):c.6059T>C (p.Ile2020Thr) rs35870237
NM_203446.2(SYNJ1):c.773G>A (p.Arg258Gln) rs398122403
PARK2, 1-BP DEL, 1072T
PARK2, 1-BP DEL, 202A
PARK2, 1-BP DEL, 255A
PARK2, EX5-6DEL
SNCA, DUPLICATION
SNCA, TRIPLICATION
m.3397A>G rs199476120
m.8344A>G rs118192098
nsv513788

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