ClinVar Miner

List of variants reported as pathogenic for basal ganglia disorder by Invitae

Included ClinVar conditions (83):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 261
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HGVS dbSNP gnomAD frequency
NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser) rs34637584 0.00036
NM_003690.5(PRKRA):c.665C>T (p.Pro222Leu) rs121434410 0.00009
NM_025243.4(SLC19A3):c.980-14A>G rs200542114 0.00008
NM_022089.4(ATP13A2):c.3057del (p.Tyr1020fs) rs765632065 0.00007
NM_025243.4(SLC19A3):c.541T>C (p.Ser181Pro) rs773971505 0.00006
NM_025243.4(SLC19A3):c.337T>C (p.Tyr113His) rs145999922 0.00004
NM_032409.3(PINK1):c.1040T>C (p.Leu347Pro) rs28940285 0.00004
NM_032409.3(PINK1):c.1366C>T (p.Gln456Ter) rs45539432 0.00004
NM_032409.3(PINK1):c.1474C>T (p.Arg492Ter) rs34208370 0.00004
NM_203446.3(SYNJ1):c.-12G>T rs1040540690 0.00004
NM_203446.3(SYNJ1):c.3865C>T (p.Arg1289Ter) rs747261340 0.00004
NM_022089.4(ATP13A2):c.1903C>T (p.Gln635Ter) rs773246271 0.00003
NM_025243.4(SLC19A3):c.854G>A (p.Trp285Ter) rs373198092 0.00003
NM_198578.4(LRRK2):c.4321C>T (p.Arg1441Cys) rs33939927 0.00003
NM_012179.4(FBXO7):c.961C>T (p.Arg321Ter) rs369105683 0.00002
NM_025243.4(SLC19A3):c.68G>T (p.Gly23Val) rs121917882 0.00002
NM_025243.4(SLC19A3):c.81_82dup (p.Met28fs) rs775835429 0.00002
NM_032409.3(PINK1):c.502G>C (p.Ala168Pro) rs768091663 0.00002
NM_032409.3(PINK1):c.665G>A (p.Trp222Ter) rs777160388 0.00002
NM_001044.5(SLC6A3):c.1269+1G>A rs431905504 0.00001
NM_002609.4(PDGFRB):c.1681C>T (p.Arg561Cys) rs367543286 0.00001
NM_012179.4(FBXO7):c.1213G>T (p.Glu405Ter) rs1342038737 0.00001
NM_022089.4(ATP13A2):c.1459C>T (p.Arg487Ter) rs1303653650 0.00001
NM_022089.4(ATP13A2):c.2116C>T (p.Gln706Ter) rs2076949269 0.00001
NM_022089.4(ATP13A2):c.2455C>T (p.Arg819Ter) rs866035312 0.00001
NM_025243.4(SLC19A3):c.111del (p.Tyr38fs) rs1559252723 0.00001
NM_025243.4(SLC19A3):c.1172+1G>A rs1219632810 0.00001
NM_025243.4(SLC19A3):c.855G>A (p.Trp285Ter) rs1695551164 0.00001
NM_032409.3(PINK1):c.13C>T (p.Gln5Ter) rs1005937012 0.00001
NM_032409.3(PINK1):c.1488+1G>A rs2053233432 0.00001
NM_032409.3(PINK1):c.273del (p.Cys92fs) rs755000580 0.00001
NM_032409.3(PINK1):c.938C>T (p.Thr313Met) rs74315359 0.00001
NM_203446.2(SYNJ1):c.12_13dup (p.Trp5Tyrfs) rs1227986180 0.00001
NM_203446.3(SYNJ1):c.2791_2795delATAAG (p.Arg932fs) rs778394516 0.00001
NM_203446.3(SYNJ1):c.656G>A (p.Arg219Gln) rs398122403 0.00001
NC_000001.10:g.(?_17316166)_(17332293_?)del
NC_000001.10:g.(?_17330807)_(17332293_?)del
NC_000001.10:g.(?_20972033)_(20972236_?)del
NC_000001.10:g.(?_20972043)_(20972226_?)del
NC_000001.10:g.(?_8022846)_(8037818_?)del
NC_000001.11:g.(?_16991714)_(16992601_?)del
NC_000002.11:g.(?_228552113)_(228567034_?)del
NC_000002.12:g.(?_227687377)_(227702338_?)del
NC_000004.11:g.(?_90647315)_(90756828_?)dup
NC_000004.11:g.(?_90647315)_(90756838_?)dup
NC_000004.11:g.(?_90647779)_(90756818_?)dup
NC_000005.9:g.(?_1253823)_(1448148_?)del
NC_000005.9:g.(?_218471)_(1895829_?)del
NC_000006.11:g.(?_162206784)_(162206960_?)dup
NC_000006.11:g.(?_162394314)_(162475226_?)dup
NC_000006.11:g.(?_162864322)_(162864525_?)dup
NC_000006.12:g.(?_161569335)_(161569436_?)del
NC_000006.12:g.(?_161785752)_(161973437_?)del
NC_000006.12:g.(?_162054091)_(162054174_?)del
NC_000006.12:g.(?_162201111)_(162201272_?)del
NC_000006.12:g.(?_162201111)_(162262785_?)del
NC_000006.12:g.(?_162201131)_(162443473_?)del
NC_000006.12:g.(?_162262505)_(162262785_?)del
NC_000006.12:g.(?_162262505)_(162443493_?)del
NC_000006.12:g.(?_162262525)_(162275409_?)dup
NC_000019.10:g.(?_41968775)_(41970552_?)del
NC_000019.9:g.(?_42471089)_(42486278_?)del
NC_000019.9:g.(?_42479761)_(42492734_?)del
NC_000019.9:g.(?_42489050)_(42490401_?)del
NC_000021.8:g.(?_34011198)_(34100351_?)del
NC_000021.8:g.(?_34072128)_(34074377_?)del
NM_000345.4(SNCA):c.136G>A (p.Glu46Lys) rs104893875
NM_000345.4(SNCA):c.157G>A (p.Ala53Thr) rs104893877
NM_000345.4(SNCA):c.89C>G (p.Ala30Gly) rs2110525413
NM_001044.5(SLC6A3):c.892del (p.Tyr297_Leu298insTer) rs1756409749
NM_001256864.2(DNAJC6):c.2456dup (p.Gln820fs) rs2101635447
NM_001256864.2(DNAJC6):c.454C>T (p.Arg152Ter) rs864622011
NM_001256864.2(DNAJC6):c.677_678dup (p.Ala227fs) rs1645848679
NM_002609.4(PDGFRB):c.1679C>T (p.Pro560Leu)
NM_002609.4(PDGFRB):c.2483C>A (p.Ala828Glu)
NM_004082.5(DCTN1):c.175G>A (p.Gly59Ser) rs121909342
NM_004082.5(DCTN1):c.175G>C (p.Gly59Arg) rs121909342
NM_004082.5(DCTN1):c.212G>A (p.Gly71Glu) rs67586389
NM_004082.5(DCTN1):c.279+1G>A rs1393363759
NM_004082.5(DCTN1):c.279+1G>C rs1393363759
NM_004082.5(DCTN1):c.279+1G>T rs1393363759
NM_004082.5(DCTN1):c.626dup (p.Leu210fs)
NM_004562.2(PRKN):c.8-?_171+?del
NM_007262.5(PARK7):c.105dup (p.Ala36fs) rs781600849
NM_007262.5(PARK7):c.82C>T (p.Arg28Ter) rs374429170
NM_012179.4(FBXO7):c.1033C>T (p.Arg345Ter)
NM_012179.4(FBXO7):c.1141C>T (p.Arg381Ter)
NM_012179.4(FBXO7):c.1188C>A (p.Tyr396Ter)
NM_012179.4(FBXO7):c.1206_1207dup (p.Arg403fs) rs749019340
NM_012179.4(FBXO7):c.1220del (p.Pro407fs)
NM_012179.4(FBXO7):c.1268_1272dup (p.Tyr425fs) rs749534144
NM_012179.4(FBXO7):c.133C>T (p.Arg45Ter)
NM_012179.4(FBXO7):c.1344T>A (p.Tyr448Ter)
NM_012179.4(FBXO7):c.1408G>T (p.Glu470Ter)
NM_012179.4(FBXO7):c.1451del (p.Pro484fs)
NM_012179.4(FBXO7):c.1492C>T (p.Arg498Ter) rs121918304
NM_012179.4(FBXO7):c.156C>G (p.Tyr52Ter)
NM_012179.4(FBXO7):c.1A>C (p.Met1Leu)
NM_012179.4(FBXO7):c.1A>G (p.Met1Val)
NM_012179.4(FBXO7):c.269_270del (p.Ser90fs)
NM_012179.4(FBXO7):c.2T>A (p.Met1Lys)
NM_012179.4(FBXO7):c.2T>G (p.Met1Arg)
NM_012179.4(FBXO7):c.316_317del (p.Leu106fs)
NM_012179.4(FBXO7):c.377del (p.Gly126fs)
NM_012179.4(FBXO7):c.497C>G (p.Ser166Ter)
NM_012179.4(FBXO7):c.521C>A (p.Ser174Ter)
NM_012179.4(FBXO7):c.544dup (p.Ser182fs)
NM_012179.4(FBXO7):c.564_567del (p.Ser189fs)
NM_012179.4(FBXO7):c.575_576del (p.Cys192fs)
NM_012179.4(FBXO7):c.65C>T (p.Thr22Met) rs121918305
NM_012179.4(FBXO7):c.709C>T (p.Gln237Ter)
NM_012179.4(FBXO7):c.726_727del (p.Cys243fs) rs1290655316
NM_012179.4(FBXO7):c.821_822del (p.Val274fs)
NM_012179.4(FBXO7):c.893_894insT (p.Lys299fs)
NM_012179.4(FBXO7):c.915_916del (p.Arg306fs)
NM_012179.4(FBXO7):c.917_918del (p.Arg306fs)
NM_012179.4(FBXO7):c.925A>T (p.Lys309Ter)
NM_018206.6(VPS35):c.1858G>A (p.Asp620Asn) rs188286943
NM_022089.4(ATP13A2):c.1033_1034del (p.Leu345fs)
NM_022089.4(ATP13A2):c.1113del (p.His372fs) rs1377055875
NM_022089.4(ATP13A2):c.1296dup (p.Ser433fs)
NM_022089.4(ATP13A2):c.1306+5G>A rs786205056
NM_022089.4(ATP13A2):c.1378del (p.Arg460fs)
NM_022089.4(ATP13A2):c.1825G>T (p.Glu609Ter)
NM_022089.4(ATP13A2):c.1932del (p.Ala646fs)
NM_022089.4(ATP13A2):c.2113C>T (p.Gln705Ter)
NM_022089.4(ATP13A2):c.213G>A (p.Trp71Ter)
NM_022089.4(ATP13A2):c.2146del (p.Asp715_Leu716insTer) rs2100768788
NM_022089.4(ATP13A2):c.217del (p.Val73fs)
NM_022089.4(ATP13A2):c.217dup (p.Val73fs)
NM_022089.4(ATP13A2):c.2587del (p.Val863fs)
NM_022089.4(ATP13A2):c.3136G>T (p.Glu1046Ter) rs1557666781
NM_022089.4(ATP13A2):c.3153dup (p.Ser1052fs)
NM_022089.4(ATP13A2):c.3157_3158del (p.Leu1053fs) rs1570759415
NM_022089.4(ATP13A2):c.409del (p.Val137fs) rs2077487643
NM_022089.4(ATP13A2):c.533_536dup (p.Gln179fs)
NM_022089.4(ATP13A2):c.572dup (p.Arg192fs)
NM_022089.4(ATP13A2):c.604del (p.His202fs)
NM_022089.4(ATP13A2):c.619C>T (p.Gln207Ter) rs1483668823
NM_022089.4(ATP13A2):c.774G>A (p.Trp258Ter)
NM_022089.4(ATP13A2):c.965del (p.Gln322fs)
NM_025243.4(SLC19A3):c.1079dup (p.Leu360fs) rs1559247315
NM_025243.4(SLC19A3):c.1164del (p.Thr388_Ile389insTer) rs2106325859
NM_025243.4(SLC19A3):c.1212dup (p.Val406fs)
NM_025243.4(SLC19A3):c.1257del (p.Ile420fs) rs2106318158
NM_025243.4(SLC19A3):c.125dup (p.Asp43fs)
NM_025243.4(SLC19A3):c.1264A>G (p.Thr422Ala) rs121917884
NM_025243.4(SLC19A3):c.129dup (p.Lys44Ter)
NM_025243.4(SLC19A3):c.12C>G (p.Tyr4Ter)
NM_025243.4(SLC19A3):c.160G>T (p.Glu54Ter)
NM_025243.4(SLC19A3):c.171del (p.Val58fs) rs2106329702
NM_025243.4(SLC19A3):c.177G>A (p.Trp59Ter)
NM_025243.4(SLC19A3):c.189C>A (p.Tyr63Ter) rs1559250774
NM_025243.4(SLC19A3):c.36G>A (p.Trp12Ter) rs778816786
NM_025243.4(SLC19A3):c.384C>G (p.Tyr128Ter) rs746490830
NM_025243.4(SLC19A3):c.426del (p.Cys143fs) rs2106329218
NM_025243.4(SLC19A3):c.475C>T (p.Gln159Ter)
NM_025243.4(SLC19A3):c.507C>G (p.Tyr169Ter)
NM_025243.4(SLC19A3):c.513C>A (p.Tyr171Ter)
NM_025243.4(SLC19A3):c.597del (p.His200fs)
NM_025243.4(SLC19A3):c.597dup (p.His200fs) rs773140674
NM_025243.4(SLC19A3):c.623_626del (p.Lys208fs)
NM_025243.4(SLC19A3):c.701del (p.Thr234fs)
NM_025243.4(SLC19A3):c.74dup (p.Ser26fs) rs786205213
NM_025243.4(SLC19A3):c.776_777del (p.Val259fs) rs2106328737
NM_025243.4(SLC19A3):c.795G>A (p.Trp265Ter)
NM_025243.4(SLC19A3):c.816C>A (p.Cys272Ter)
NM_025243.4(SLC19A3):c.856del (p.Ala286fs)
NM_025243.4(SLC19A3):c.885_888dup (p.Asn297fs)
NM_032409.3(PINK1):c.1155_1156insTGCCCGCGTCCCTTTCTCCATAAAATTCTTCTTAGTAGCTA (p.Gly386delinsCysProArgProPheLeuHisLysIleLeuLeuSerSerTer)
NM_032409.3(PINK1):c.1252-1G>A rs2053228483
NM_032409.3(PINK1):c.1329del (p.Tyr444fs) rs775479526
NM_032409.3(PINK1):c.1501C>T (p.Arg501Ter)
NM_032409.3(PINK1):c.1600C>T (p.Gln534Ter)
NM_032409.3(PINK1):c.309del (p.Phe104fs)
NM_032409.3(PINK1):c.599del (p.Ala200fs) rs1557561340
NM_032409.3(PINK1):c.666G>A (p.Trp222Ter) rs2154533643
NM_032409.3(PINK1):c.710del (p.Met237fs)
NM_032409.3(PINK1):c.736C>T (p.Arg246Ter) rs74315357
NM_032409.3(PINK1):c.85_106del (p.Tyr29fs) rs1480758482
NM_152296.5(ATP1A3):c.1072G>A (p.Gly358Ser) rs606231432
NM_152296.5(ATP1A3):c.1072G>T (p.Gly358Cys) rs606231432
NM_152296.5(ATP1A3):c.1073G>A (p.Gly358Asp) rs1555863693
NM_152296.5(ATP1A3):c.1088T>C (p.Ile363Thr) rs2145972483
NM_152296.5(ATP1A3):c.1299del (p.Lys434fs)
NM_152296.5(ATP1A3):c.1429A>T (p.Lys477Ter) rs2145971509
NM_152296.5(ATP1A3):c.1784_1792del (p.Lys595_Arg597del)
NM_152296.5(ATP1A3):c.1838C>T (p.Thr613Met)
NM_152296.5(ATP1A3):c.1930C>T (p.Gln644Ter) rs1555861946
NM_152296.5(ATP1A3):c.1959C>A (p.Cys653Ter) rs782105093
NM_152296.5(ATP1A3):c.2116G>A (p.Gly706Arg) rs782175860
NM_152296.5(ATP1A3):c.2116G>C (p.Gly706Arg)
NM_152296.5(ATP1A3):c.2144T>C (p.Leu715Pro) rs2075159021
NM_152296.5(ATP1A3):c.2153C>A (p.Ala718Asp) rs2075158829
NM_152296.5(ATP1A3):c.2167G>C (p.Ala723Pro)
NM_152296.5(ATP1A3):c.2224GAC[1] (p.Asp743del)
NM_152296.5(ATP1A3):c.2263G>A (p.Gly755Ser) rs557052809
NM_152296.5(ATP1A3):c.2263G>T (p.Gly755Cys) rs557052809
NM_152296.5(ATP1A3):c.2264G>C (p.Gly755Ala) rs606231434
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.2315G>A (p.Ser772Asn) rs1064795234
NM_152296.5(ATP1A3):c.2318A>G (p.Asn773Ser) rs606231437
NM_152296.5(ATP1A3):c.2324C>T (p.Pro775Leu) rs886041396
NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn)
NM_152296.5(ATP1A3):c.2401G>T (p.Asp801Tyr) rs80356537
NM_152296.5(ATP1A3):c.2408G>A (p.Gly803Asp) rs1555859571
NM_152296.5(ATP1A3):c.2415C>G (p.Asp805Glu) rs606231439
NM_152296.5(ATP1A3):c.2431T>C (p.Ser811Pro) rs387907282
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.2542+1G>A rs606231441
NM_152296.5(ATP1A3):c.2542+1G>C rs606231441
NM_152296.5(ATP1A3):c.2652dup (p.Val885fs) rs2145945849
NM_152296.5(ATP1A3):c.266G>C (p.Gly89Ala) rs1599725621
NM_152296.5(ATP1A3):c.2673_2678del (p.Ser891_Gly893delinsArg) rs2145945805
NM_152296.5(ATP1A3):c.2677G>A (p.Gly893Arg) rs1568853466
NM_152296.5(ATP1A3):c.2752GTC[1] (p.Val919del) rs606231443
NM_152296.5(ATP1A3):c.2759A>C (p.Gln920Pro)
NM_152296.5(ATP1A3):c.2763G>A (p.Trp921Ter) rs1060500993
NM_152296.5(ATP1A3):c.2767G>A (p.Asp923Asn) rs267606670
NM_152296.5(ATP1A3):c.2767G>T (p.Asp923Tyr) rs267606670
NM_152296.5(ATP1A3):c.2768A>C (p.Asp923Ala) rs2075071528
NM_152296.5(ATP1A3):c.2771T>C (p.Leu924Pro) rs1555859157
NM_152296.5(ATP1A3):c.281T>C (p.Leu94Pro)
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.2839G>T (p.Gly947Trp) rs398122887
NM_152296.5(ATP1A3):c.2902del (p.Leu968fs)
NM_152296.5(ATP1A3):c.2966_2996del (p.Phe989fs)
NM_152296.5(ATP1A3):c.3013+1G>A rs2145941195
NM_152296.5(ATP1A3):c.410C>A (p.Ser137Tyr) rs542652468
NM_152296.5(ATP1A3):c.410C>T (p.Ser137Phe) rs542652468
NM_152296.5(ATP1A3):c.562C>T (p.Arg188Ter) rs2075282510
NM_152296.5(ATP1A3):c.829G>A (p.Glu277Lys) rs80356533
NM_152296.5(ATP1A3):c.946G>A (p.Gly316Ser) rs869320661
NM_152296.5(ATP1A3):c.954C>G (p.Ile318Met) rs529241207
NM_152296.5(ATP1A3):c.958G>C (p.Ala320Pro) rs879255368
NM_152296.5(ATP1A3):c.967C>T (p.Pro323Ser) rs864309572
NM_152296.5(ATP1A3):c.977T>G (p.Leu326Arg) rs1131691307
NM_198578.4(LRRK2):c.4321C>G (p.Arg1441Gly) rs33939927
NM_203446.2(SYNJ1):c.24G>A (p.Trp8Ter) rs1569147057
NM_203446.2(SYNJ1):c.7delA (p.Lys3Argfs)
NM_203446.3(SYNJ1):c.1066C>T (p.Gln356Ter)
NM_203446.3(SYNJ1):c.1093dup (p.Tyr365fs) rs1419316294
NM_203446.3(SYNJ1):c.1213C>T (p.Gln405Ter)
NM_203446.3(SYNJ1):c.1279_1280dup (p.Met428fs) rs2146047336
NM_203446.3(SYNJ1):c.1480C>T (p.Arg494Ter)
NM_203446.3(SYNJ1):c.1696_1699del (p.Pro566fs) rs2145981153
NM_203446.3(SYNJ1):c.1918_1921del (p.Val640fs) rs1488690709
NM_203446.3(SYNJ1):c.2125C>T (p.Arg709Ter)
NM_203446.3(SYNJ1):c.2242C>T (p.Gln748Ter)
NM_203446.3(SYNJ1):c.2619dup (p.Glu874Ter)
NM_203446.3(SYNJ1):c.2896_2897del (p.Ile966fs)
NM_203446.3(SYNJ1):c.295del (p.Thr99fs) rs2146213651
NM_203446.3(SYNJ1):c.3126del (p.Ser1043fs) rs1230133310
NM_203446.3(SYNJ1):c.3438dup (p.Ala1147fs) rs2145756643
NM_203446.3(SYNJ1):c.3457del (p.Gly1152_Val1153insTer) rs2039933328
NM_203446.3(SYNJ1):c.345del (p.Ile116fs) rs2146213143
NM_203446.3(SYNJ1):c.3656dup (p.Thr1220fs)
NM_203446.3(SYNJ1):c.748C>T (p.Arg250Ter) rs1160469053

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