ClinVar Miner

List of variants reported as not provided for basal ganglia disorder

Included ClinVar conditions (83):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 195
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_198578.4(LRRK2):c.4872C>A (p.Gly1624=) rs1427263 0.70218
NM_198578.4(LRRK2):c.4911A>G (p.Lys1637=) rs11176013 0.56443
NM_198578.4(LRRK2):c.5457T>C (p.Gly1819=) rs10878371 0.56374
NM_198578.4(LRRK2):c.457T>C (p.Leu153=) rs10878245 0.50692
NM_198578.4(LRRK2):c.4939T>A (p.Ser1647Thr) rs11564148 0.26687
NM_198578.4(LRRK2):c.6324G>A (p.Glu2108=) rs10878405 0.26650
NM_198578.4(LRRK2):c.7155A>G (p.Gly2385=) rs33962975 0.11278
NM_198578.4(LRRK2):c.1653C>G (p.Asn551Lys) rs7308720 0.10004
NM_198578.4(LRRK2):c.2857T>C (p.Leu953=) rs7966550 0.08994
NM_198578.4(LRRK2):c.4269G>A (p.Lys1423=) rs11175964 0.05959
NM_004562.3(PRKN):c.500G>A (p.Ser167Asn) rs1801474 0.05277
NM_198578.4(LRRK2):c.2167A>G (p.Ile723Val) rs10878307 0.04677
NM_198578.4(LRRK2):c.4624C>T (p.Pro1542Ser) rs33958906 0.03091
NM_198578.4(LRRK2):c.6241A>G (p.Asn2081Asp) rs33995883 0.01276
NM_198578.4(LRRK2):c.4937T>C (p.Met1646Thr) rs35303786 0.01047
NM_198578.4(LRRK2):c.3784C>G (p.Pro1262Ala) rs4640000 0.00717
NM_198578.4(LRRK2):c.4229C>T (p.Thr1410Met) rs72546327 0.00621
NM_198578.4(LRRK2):c.4541G>A (p.Arg1514Gln) rs35507033 0.00526
NM_198578.4(LRRK2):c.5163A>G (p.Ser1721=) rs79909111 0.00293
NM_198578.4(LRRK2):c.1000G>A (p.Glu334Lys) rs78501232 0.00266
NM_004562.3(PRKN):c.823C>T (p.Arg275Trp) rs34424986 0.00226
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) rs76763715 0.00191
NM_032409.3(PINK1):c.1231G>A (p.Gly411Ser) rs45478900 0.00146
NM_198578.4(LRRK2):c.356T>C (p.Leu119Pro) rs33995463 0.00140
NM_198578.4(LRRK2):c.3333G>T (p.Gln1111His) rs78365431 0.00121
NM_198578.4(LRRK2):c.2022A>C (p.Val674=) rs72546319 0.00117
NM_198578.4(LRRK2):c.6510C>A (p.Gly2170=) rs34869625 0.00101
NM_022089.4(ATP13A2):c.2836A>T (p.Ile946Phe) rs55708915 0.00091
NM_198578.4(LRRK2):c.2378G>T (p.Arg793Met) rs35173587 0.00085
NM_198578.4(LRRK2):c.5606T>C (p.Met1869Thr) rs35602796 0.00060
NM_198578.4(LRRK2):c.7153G>A (p.Gly2385Arg) rs34778348 0.00058
NM_198578.4(LRRK2):c.6566A>G (p.Tyr2189Cys) rs35658131 0.00055
NM_198578.4(LRRK2):c.4111A>G (p.Ile1371Val) rs17466213 0.00050
NM_022089.4(ATP13A2):c.746C>T (p.Ala249Val) rs145515028 0.00044
NM_198578.4(LRRK2):c.2481T>C (p.Ser827=) rs76890302 0.00038
NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser) rs34637584 0.00036
NM_018206.6(VPS35):c.151G>A (p.Gly51Ser) rs193077277 0.00028
NM_198578.4(LRRK2):c.1256C>T (p.Ala419Val) rs34594498 0.00025
NM_198578.4(LRRK2):c.7067C>T (p.Thr2356Ile) rs113511708 0.00025
NM_198578.4(LRRK2):c.5467C>A (p.Gln1823Lys) rs72547980 0.00024
NM_198578.4(LRRK2):c.2264C>T (p.Pro755Leu) rs34410987 0.00023
NM_198578.4(LRRK2):c.5822G>A (p.Arg1941His) rs77428810 0.00022
NM_198578.4(LRRK2):c.3974G>A (p.Arg1325Gln) rs72546338 0.00021
NM_198578.4(LRRK2):c.2769G>C (p.Gln923His) rs58559150 0.00020
NM_198578.4(LRRK2):c.3683G>C (p.Ser1228Thr) rs60185966 0.00019
NM_025243.4(SLC19A3):c.977G>T (p.Gly326Val) rs747823282 0.00016
NM_198578.4(LRRK2):c.1561A>G (p.Arg521Gly) rs35328937 0.00016
NM_198578.4(LRRK2):c.3342A>G (p.Leu1114=) rs35808389 0.00016
NM_004606.5(TAF1):c.235+3G>A rs368024152 0.00014
NM_004562.3(PRKN):c.1096C>T (p.Arg366Trp) rs56092260 0.00012
NM_198578.4(LRRK2):c.3451G>A (p.Ala1151Thr) rs74985840 0.00011
NM_198578.4(LRRK2):c.632C>T (p.Ala211Val) rs112794616 0.00011
NM_018206.6(VPS35):c.946C>T (p.Pro316Ser) rs770029606 0.00009
NM_198578.4(LRRK2):c.6428G>A (p.Arg2143His) rs201271001 0.00009
NM_198578.4(LRRK2):c.683G>C (p.Cys228Ser) rs56108242 0.00008
NM_198578.4(LRRK2):c.4348G>A (p.Val1450Ile) rs111501952 0.00007
NM_018206.6(VPS35):c.2320C>A (p.Leu774Met) rs192419029 0.00006
NM_198578.4(LRRK2):c.4323C>T (p.Arg1441=) rs112998035 0.00006
NM_198578.4(LRRK2):c.546A>G (p.Lys182=) rs35517158 0.00006
NM_198578.4(LRRK2):c.6422C>T (p.Thr2141Met) rs111691891 0.00005
NM_032409.3(PINK1):c.1366C>T (p.Gln456Ter) rs45539432 0.00004
NM_198578.4(LRRK2):c.155C>T (p.Ser52Phe) rs72546335 0.00004
NM_198578.4(LRRK2):c.3018A>G (p.Ile1006Met) rs113217062 0.00004
NM_198578.4(LRRK2):c.3574A>G (p.Ile1192Val) rs281865047 0.00004
NM_198578.4(LRRK2):c.4959A>G (p.Leu1653=) rs111503579 0.00004
NM_022089.4(ATP13A2):c.*24C>T rs375521810 0.00003
NM_198578.4(LRRK2):c.1464A>T (p.Leu488=) rs75711334 0.00003
NM_198578.4(LRRK2):c.1517G>A (p.Arg506Gln) rs202009639 0.00003
NM_198578.4(LRRK2):c.1987T>C (p.Ser663Pro) rs78154388 0.00003
NM_198578.4(LRRK2):c.3287C>G (p.Ser1096Cys) rs76535406 0.00003
NM_198578.4(LRRK2):c.4290C>T (p.Ala1430=) rs111435410 0.00003
NM_198578.4(LRRK2):c.4321C>T (p.Arg1441Cys) rs33939927 0.00003
NM_198578.4(LRRK2):c.5183G>A (p.Arg1728His) rs145364431 0.00003
NM_198578.4(LRRK2):c.7168G>A (p.Val2390Met) rs79546190 0.00003
NM_198578.4(LRRK2):c.7224G>A (p.Met2408Ile) rs60545352 0.00003
NM_004082.5(DCTN1):c.2477C>T (p.Thr826Met) rs766585070 0.00002
NM_018206.6(VPS35):c.2210C>T (p.Ala737Val) rs749516404 0.00002
NM_198578.4(LRRK2):c.3200G>A (p.Arg1067Gln) rs111341148 0.00002
NM_198578.4(LRRK2):c.7186_7187dup (p.Val2396_Met2397insTer) rs281865056 0.00002
NM_001256864.2(DNAJC6):c.2223A>T (p.Thr741=) rs879255554 0.00001
NM_001256864.2(DNAJC6):c.2687C>T (p.Thr896Met) rs200138922 0.00001
NM_002609.4(PDGFRB):c.2959C>T (p.Arg987Trp) rs397509382 0.00001
NM_018206.6(VPS35):c.1520A>T (p.Tyr507Phe) rs1555465749 0.00001
NM_018206.6(VPS35):c.1570C>T (p.Arg524Trp) rs184277092 0.00001
NM_018206.6(VPS35):c.1679T>C (p.Ile560Thr) rs760128592 0.00001
NM_018206.6(VPS35):c.171G>A (p.Met57Ile) rs183554824 0.00001
NM_198578.4(LRRK2):c.1096G>A (p.Val366Met) rs113065049 0.00001
NM_198578.4(LRRK2):c.1630A>G (p.Lys544Glu) rs79996249 0.00001
NM_198578.4(LRRK2):c.1847A>G (p.Lys616Arg) rs281865042 0.00001
NM_198578.4(LRRK2):c.2611A>G (p.Lys871Glu) rs281865044 0.00001
NM_198578.4(LRRK2):c.2830G>T (p.Asp944Tyr) rs17519916 0.00001
NM_198578.4(LRRK2):c.4322G>A (p.Arg1441His) rs34995376 0.00001
NM_198578.4(LRRK2):c.4337C>T (p.Pro1446Leu) rs74681492 0.00001
NM_198578.4(LRRK2):c.4448G>A (p.Arg1483Gln) rs113431708 0.00001
NM_198578.4(LRRK2):c.5174G>A (p.Arg1725Gln) rs72547979 0.00001
NM_198578.4(LRRK2):c.6035T>C (p.Ile2012Thr) rs34015634 0.00001
NM_198578.4(LRRK2):c.6091A>T (p.Thr2031Ser) rs78029637 0.00001
NM_198578.4(LRRK2):c.713A>T (p.Asn238Ile) rs28365216 0.00001
NM_198578.4(LRRK2):c.7397T>A (p.Leu2466His) rs281865057 0.00001
NM_198578.4(LRRK2):c.7435A>G (p.Asn2479Asp) rs55633591 0.00001
GRCh37/hg19 4q22.1(chr4:90647779-90756863)x3
NM_001256864.2(DNAJC6):c.2038+3A>G rs961974767
NM_001256864.2(DNAJC6):c.2365C>T (p.Gln789Ter) rs2101635253
NM_001256864.2(DNAJC6):c.2410C>T (p.Gln804Ter) rs398122405
NM_001256864.2(DNAJC6):c.2416C>T (p.Arg806Ter) rs1646073230
NM_001256864.2(DNAJC6):c.2779A>G (p.Arg927Gly) rs879255630
NM_001256864.2(DNAJC6):c.766C>T (p.Arg256Ter) rs745630837
NM_001256864.2(DNAJC6):c.801-2A>G rs398122404
NM_001257180.2(SLC20A2):c.1802C>G (p.Ser601Trp) rs387906652
NM_001257180.2(SLC20A2):c.1802C>T (p.Ser601Leu) rs387906652
NM_002609.4(PDGFRB):c.1973T>C (p.Leu658Pro) rs397509381
NM_004082.5(DCTN1):c.1504C>T (p.Arg502Cys) rs145958900
NM_004082.5(DCTN1):c.1807C>A (p.His603Asn) rs1558939544
NM_004082.5(DCTN1):c.211G>A (p.Gly71Arg) rs72466485
NM_004082.5(DCTN1):c.874C>T (p.Arg292Cys) rs1200414397
NM_004562.3(PRKN):c.1138G>C (p.Val380Leu) rs1801582
NM_018206.6(VPS35):c.1796A>G (p.His599Arg) rs1434487321
NM_018206.6(VPS35):c.1819A>G (p.Met607Val) rs1555523076
NM_018206.6(VPS35):c.1858G>A (p.Asp620Asn) rs188286943
NM_018206.6(VPS35):c.2359G>A (p.Glu787Lys) rs777050595
NM_018206.6(VPS35):c.723T>G (p.Ile241Met) rs192783364
NM_018713.3(SLC30A10):c.1006C>T (p.His336Tyr) rs770740586
NM_018713.3(SLC30A10):c.1046T>C (p.Leu349Pro) rs281860291
NM_018713.3(SLC30A10):c.1235del (p.Gln412fs) rs281860292
NM_018713.3(SLC30A10):c.266T>C (p.Leu89Pro) rs281860284
NM_018713.3(SLC30A10):c.292_402del (p.Val98_Phe134del) rs1553313839
NM_018713.3(SLC30A10):c.314_322del (p.Ala105_Pro107del) rs281860285
NM_018713.3(SLC30A10):c.460C>T (p.Gln154Ter) rs1057519589
NM_018713.3(SLC30A10):c.492del (p.Gly165fs) rs1057519590
NM_018713.3(SLC30A10):c.496_553del (p.Ala166fs) rs1553313783
NM_018713.3(SLC30A10):c.500T>C (p.Phe167Ser) rs281860286
NM_018713.3(SLC30A10):c.507del (p.Pro170fs) rs281860287
NM_018713.3(SLC30A10):c.585del (p.Thr196fs) rs281860288
NM_018713.3(SLC30A10):c.765_767del (p.Val256del) rs281860289
NM_018713.3(SLC30A10):c.922C>T (p.Gln308Ter) rs281860290
NM_032409.3(PINK1):c.799C>T (p.Gln267Ter) rs730882053
NM_152296.5(ATP1A3):c.1073G>A (p.Gly358Asp) rs1555863693
NM_152296.5(ATP1A3):c.1073G>T (p.Gly358Val) rs1555863693
NM_152296.5(ATP1A3):c.1088T>A (p.Ile363Asn) rs2145972483
NM_152296.5(ATP1A3):c.1838C>T (p.Thr613Met)
NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys) rs1064797245
NM_152296.5(ATP1A3):c.2267G>A (p.Arg756His) rs606231435
NM_152296.5(ATP1A3):c.2267G>T (p.Arg756Leu) rs606231435
NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn)
NM_152296.5(ATP1A3):c.2443G>A (p.Glu815Lys) rs387907281
NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys) rs587777771
NM_152296.5(ATP1A3):c.2600G>A (p.Gly867Asp) rs606231442
NM_152296.5(ATP1A3):c.2767G>A (p.Asp923Asn) rs267606670
NM_152296.5(ATP1A3):c.2839G>A (p.Gly947Arg) rs398122887
NM_152296.5(ATP1A3):c.2839G>C (p.Gly947Arg) rs398122887
NM_152296.5(ATP1A3):c.2851G>A (p.Glu951Lys) rs2145942372
NM_152296.5(ATP1A3):c.385G>A (p.Val129Met) rs1555865401
NM_152296.5(ATP1A3):c.829G>A (p.Glu277Lys) rs80356533
NM_152296.5(ATP1A3):c.946G>A (p.Gly316Ser) rs869320661
NM_198578.4(LRRK2):c.1088A>G (p.Asn363Ser) rs72546336
NM_198578.4(LRRK2):c.2134A>G (p.Met712Val) rs199566791
NM_198578.4(LRRK2):c.2147C>T (p.Ala716Val) rs281865043
NM_198578.4(LRRK2):c.2428A>G (p.Ile810Val) rs72546337
NM_198578.4(LRRK2):c.2789A>G (p.Gln930Arg) rs281865045
NM_198578.4(LRRK2):c.28G>A (p.Glu10Lys) rs281865040
NM_198578.4(LRRK2):c.2918G>A (p.Ser973Asn) rs75148313
NM_198578.4(LRRK2):c.3364A>G (p.Ile1122Val) rs34805604
NM_198578.4(LRRK2):c.3494T>C (p.Leu1165Pro) rs281865046
NM_198578.4(LRRK2):c.3647A>G (p.His1216Arg) rs72546324
NM_198578.4(LRRK2):c.3683G>T (p.Ser1228Ile) rs60185966
NM_198578.4(LRRK2):c.4125C>A (p.Asp1375Glu) rs28365226
NM_198578.4(LRRK2):c.4193G>A (p.Arg1398His) rs7133914
NM_198578.4(LRRK2):c.4258G>A (p.Asp1420Asn) rs113589830
NM_198578.4(LRRK2):c.4309A>C (p.Asn1437His) rs74163686
NM_198578.4(LRRK2):c.4314A>G (p.Ile1438Met) rs878853307
NM_198578.4(LRRK2):c.4321C>G (p.Arg1441Gly) rs33939927
NM_198578.4(LRRK2):c.4324G>C (p.Ala1442Pro) rs281865048
NM_198578.4(LRRK2):c.4358A>G (p.His1453Arg) rs878853308
NM_198578.4(LRRK2):c.4364_4365del (p.Asp1455fs) rs281865049
NM_198578.4(LRRK2):c.4402A>G (p.Lys1468Glu) rs281865050
NM_198578.4(LRRK2):c.4666C>A (p.Leu1556Ile) rs17491187
NM_198578.4(LRRK2):c.4793T>A (p.Val1598Glu) rs721710
NM_198578.4(LRRK2):c.4838T>C (p.Val1613Ala) rs281865051
NM_198578.4(LRRK2):c.4883G>C (p.Arg1628Pro) rs33949390
NM_198578.4(LRRK2):c.5096A>G (p.Tyr1699Cys) rs35801418
NM_198578.4(LRRK2):c.5173C>T (p.Arg1725Ter) rs11564176
NM_198578.4(LRRK2):c.5183G>T (p.Arg1728Leu) rs145364431
NM_198578.4(LRRK2):c.5385G>T (p.Leu1795Phe) rs111910483
NM_198578.4(LRRK2):c.5605A>G (p.Met1869Val) rs281865052
NM_198578.4(LRRK2):c.5610G>T (p.Leu1870Phe) rs281865053
NM_198578.4(LRRK2):c.5620G>T (p.Glu1874Ter) rs281865054
NM_198578.4(LRRK2):c.6016T>C (p.Tyr2006His) rs281865055
NM_198578.4(LRRK2):c.6059T>C (p.Ile2020Thr) rs35870237
NM_198578.4(LRRK2):c.6187_6191del (p.Leu2062_Leu2063insTer) rs111739194
NM_198578.4(LRRK2):c.6356C>T (p.Pro2119Leu) rs12423862
NM_198578.4(LRRK2):c.6415T>A (p.Cys2139Ser) rs112048985
NM_198578.4(LRRK2):c.6782A>T (p.Asn2261Ile) rs12581902
NM_198578.4(LRRK2):c.7183G>A (p.Glu2395Lys) rs78964014
NM_198578.4(LRRK2):c.936G>T (p.Ala312=) rs41286466
NM_203446.3(SYNJ1):c.1183G>A (p.Ala395Thr) rs746354059

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