ClinVar Miner

List of variants studied for basal ganglia disorder by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (83):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 393
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HGVS dbSNP gnomAD frequency
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_001377265.1(MAPT):c.220+2535A>G rs1800547 0.14618
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_003690.5(PRKRA):c.549T>C (p.Asn183=) rs61746229 0.04819
NM_001377265.1(MAPT):c.914A>G (p.Gln305Arg) rs63750072 0.03830
NM_198578.4(LRRK2):c.4624C>T (p.Pro1542Ser) rs33958906 0.03091
NM_004562.3(PRKN):c.1180G>A (p.Asp394Asn) rs1801334 0.02570
NM_003690.5(PRKRA):c.609+20A>G rs73973115 0.02096
NM_013247.5(HTRA2):c.480C>G (p.Ala160=) rs2231248 0.01771
NM_013247.5(HTRA2):c.421G>T (p.Ala141Ser) rs72470544 0.01709
NM_198578.4(LRRK2):c.6844-14_6844-13insA rs150964683 0.01681
NM_025243.4(SLC19A3):c.42C>T (p.Tyr14=) rs34080459 0.01664
NM_198241.3(EIF4G1):c.4251C>T (p.Val1417=) rs76779558 0.01418
NM_198578.4(LRRK2):c.3778-9C>T rs114948984 0.01375
NM_198578.4(LRRK2):c.5509+20A>C rs11564134 0.01309
NM_198578.4(LRRK2):c.6241A>G (p.Asn2081Asp) rs33995883 0.01276
NM_032409.3(PINK1):c.1426G>A (p.Glu476Lys) rs115477764 0.01222
NM_004082.5(DCTN1):c.34-11G>T rs73948789 0.01216
NM_198578.4(LRRK2):c.867C>T (p.Asn289=) rs17490713 0.01182
NM_032409.3(PINK1):c.1173T>C (p.Asp391=) rs45499398 0.01177
NM_001256864.2(DNAJC6):c.1456C>T (p.Leu486Phe) rs78141380 0.01170
NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys) rs2230288 0.01061
NM_003690.5(PRKRA):c.861C>T (p.Ser287=) rs116833881 0.00976
NM_032409.3(PINK1):c.1502G>A (p.Arg501Gln) rs61744200 0.00956
NM_000157.4(GBA1):c.762-18T>A rs140335079 0.00896
NM_020821.3(VPS13C):c.1929A>C (p.Ala643=) rs115871350 0.00801
NM_152296.5(ATP1A3):c.2487G>A (p.Pro829=) rs45606534 0.00759
NM_198578.4(LRRK2):c.3784C>G (p.Pro1262Ala) rs4640000 0.00717
NM_000345.4(SNCA):c.*139T>G rs10024743 0.00703
NM_007262.5(PARK7):c.293G>A (p.Arg98Gln) rs71653619 0.00688
NM_022089.4(ATP13A2):c.145G>A (p.Gly49Ser) rs56379718 0.00681
NM_004562.3(PRKN):c.136G>A (p.Ala46Thr) rs75860381 0.00621
NM_025243.4(SLC19A3):c.309G>A (p.Val103=) rs142837989 0.00618
NM_198578.4(LRRK2):c.4541G>A (p.Arg1514Gln) rs35507033 0.00526
NM_001257180.2(SLC20A2):c.1008C>T (p.His336=) rs111553899 0.00499
NM_198241.3(EIF4G1):c.4510C>T (p.Leu1504=) rs74627110 0.00490
NM_007262.5(PARK7):c.*124C>T rs147437667 0.00484
NM_022089.4(ATP13A2):c.132A>G (p.Pro44=) rs200816691 0.00471
NM_004562.3(PRKN):c.458C>G (p.Pro153Arg) rs55654276 0.00452
NM_203446.3(SYNJ1):c.6G>A (p.Ala2=) rs61750221 0.00452
NM_007262.5(PARK7):c.166G>A (p.Ala56Thr) rs114601558 0.00448
NM_004562.3(PRKN):c.714C>T (p.Cys238=) rs114974496 0.00357
NM_000345.4(SNCA):c.408C>T (p.Tyr136=) rs76642636 0.00252
NM_198578.4(LRRK2):c.5510-9A>G rs41286460 0.00252
NM_005765.3(ATP6AP2):c.38-5T>C rs190477001 0.00243
NM_000157.4(GBA1):c.1444G>A (p.Asp482Asn) rs75671029 0.00236
NM_022089.4(ATP13A2):c.1195+9C>T rs117758987 0.00227
NM_004562.3(PRKN):c.823C>T (p.Arg275Trp) rs34424986 0.00226
NM_004082.5(DCTN1):c.2761-18C>T rs549475401 0.00209
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) rs76763715 0.00191
NM_004606.5(TAF1):c.4708C>T (p.Leu1570=) rs142496099 0.00176
NM_003690.5(PRKRA):c.-104G>A rs545506202 0.00168
NM_005765.3(ATP6AP2):c.1050T>C (p.Asp350=) rs79790275 0.00141
NM_032409.3(PINK1):c.387+20A>G rs368222506 0.00122
NM_198578.4(LRRK2):c.3333G>T (p.Gln1111His) rs78365431 0.00121
NM_001377265.1(MAPT):c.2074G>A (p.Val692Ile) rs116733906 0.00116
NM_152296.5(ATP1A3):c.357C>T (p.Asn119=) rs143547136 0.00108
NM_000157.4(GBA1):c.1473C>T (p.Pro491=) rs149257166 0.00094
NM_018206.6(VPS35):c.834T>C (p.Thr278=) rs148572750 0.00093
NM_032409.3(PINK1):c.952A>T (p.Met318Leu) rs139226733 0.00093
NM_003560.4(PLA2G6):c.1615G>A (p.Gly539Ser) rs143826762 0.00092
NM_000157.4(GBA1):c.1200G>A (p.Met400Ile) rs149487315 0.00091
NM_001044.5(SLC6A3):c.499C>T (p.Leu167Phe) rs71653633 0.00080
NM_003690.4(PRKRA):c.-149T>C rs559331370 0.00066
NM_152296.5(ATP1A3):c.192G>A (p.Arg64=) rs146053862 0.00061
NM_001044.5(SLC6A3):c.60G>A (p.Glu20=) rs115160598 0.00057
NM_198241.3(EIF4G1):c.2979C>T (p.Arg993=) rs11918961 0.00057
NM_032409.3(PINK1):c.851C>A (p.Ser284Tyr) rs113092523 0.00056
NM_004562.3(PRKN):c.799T>C (p.Tyr267His) rs114696251 0.00055
NM_032409.3(PINK1):c.1488+17C>T rs140025459 0.00055
NM_198578.4(LRRK2):c.6566A>G (p.Tyr2189Cys) rs35658131 0.00055
NM_012179.4(FBXO7):c.1453G>A (p.Val485Ile) rs141286570 0.00054
NM_022089.4(ATP13A2):c.2972G>A (p.Arg991Gln) rs145548316 0.00050
NM_198578.4(LRRK2):c.1383T>C (p.Ser461=) rs35847451 0.00047
NM_004082.5(DCTN1):c.279+8C>T rs376401397 0.00046
NM_004606.5(TAF1):c.422C>T (p.Pro141Leu) rs141145230 0.00045
NM_001044.5(SLC6A3):c.1155C>T (p.Asp385=) rs145114326 0.00044
NM_022089.4(ATP13A2):c.3235+20C>T rs376475762 0.00044
NM_003690.5(PRKRA):c.-64C>G rs576729883 0.00041
NM_003560.4(PLA2G6):c.101C>T (p.Ser34Leu) rs147948449 0.00040
NM_001044.5(SLC6A3):c.1470C>T (p.Ile490=) rs8179034 0.00039
NM_022089.4(ATP13A2):c.3087C>T (p.Phe1029=) rs184878897 0.00039
NM_003560.4(PLA2G6):c.416G>A (p.Arg139His) rs141825182 0.00038
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_003560.4(PLA2G6):c.91G>A (p.Asp31Asn) rs150024227 0.00035
NM_022089.4(ATP13A2):c.1039+6C>T rs565724504 0.00035
NM_198578.4(LRRK2):c.7429C>T (p.Arg2477Trp) rs138780308 0.00035
NM_001044.5(SLC6A3):c.70G>A (p.Val24Met) rs201800694 0.00034
NM_022089.4(ATP13A2):c.3314C>T (p.Pro1105Leu) rs201756175 0.00034
NM_004606.5(TAF1):c.4698G>A (p.Arg1566=) rs148007434 0.00033
NM_004181.5(UCHL1):c.609A>G (p.Glu203=) rs147661219 0.00031
NM_004082.5(DCTN1):c.2805C>G (p.Ile935Met) rs145130328 0.00029
NM_004606.5(TAF1):c.4754-4A>G rs370696191 0.00029
NM_004562.3(PRKN):c.101_102del (p.Gln34fs) rs55777503 0.00027
NM_152296.5(ATP1A3):c.1503C>T (p.Pro501=) rs143904999 0.00027
NM_001044.5(SLC6A3):c.1767+13A>G rs28363130 0.00026
NM_152296.5(ATP1A3):c.-148T>G rs769525784 0.00026
NM_198578.4(LRRK2):c.1256C>T (p.Ala419Val) rs34594498 0.00025
NM_198578.4(LRRK2):c.7462+15G>C rs200420425 0.00025
NM_198578.4(LRRK2):c.2264C>T (p.Pro755Leu) rs34410987 0.00023
NM_000157.4(GBA1):c.1224G>A (p.Thr408=) rs138498426 0.00022
NM_000345.4(SNCA):c.121+11C>T rs35135226 0.00022
NM_001044.5(SLC6A3):c.1143C>T (p.Asp381=) rs8179027 0.00022
NM_198578.4(LRRK2):c.1324C>T (p.His442Tyr) rs568593066 0.00022
NM_198578.4(LRRK2):c.5822G>A (p.Arg1941His) rs77428810 0.00022
NM_000157.4(GBA1):c.1342G>C (p.Asp448His) rs1064651 0.00020
NM_003560.4(PLA2G6):c.439G>A (p.Ala147Thr) rs138672490 0.00020
NM_032409.3(PINK1):c.626C>T (p.Pro209Leu) rs34677717 0.00020
NM_003560.4(PLA2G6):c.1381C>T (p.Arg461Trp) rs76718524 0.00019
NM_004082.5(DCTN1):c.3127C>T (p.Arg1043Cys) rs140066692 0.00019
NM_198578.4(LRRK2):c.45T>C (p.Thr15=) rs142399623 0.00019
NM_004082.5(DCTN1):c.3029+19G>A rs201665169 0.00018
NM_004562.3(PRKN):c.930G>C (p.Glu310Asp) rs72480423 0.00018
NM_032409.3(PINK1):c.153A>G (p.Gly51=) rs967760539 0.00018
NM_003560.4(PLA2G6):c.1427C>T (p.Thr476Ile) rs146684391 0.00017
NM_032409.3(PINK1):c.587C>T (p.Pro196Leu) rs138302371 0.00017
NM_000157.4(GBA1):c.222_224del (p.Thr75del) rs761621516 0.00016
NM_000345.4(SNCA):c.349C>A (p.Pro117Thr) rs145138372 0.00016
NM_003560.4(PLA2G6):c.2234G>A (p.Arg745Gln) rs368514303 0.00016
NM_004562.3(PRKN):c.337_376del (p.Pro113fs) rs771529549 0.00016
NM_004562.3(PRKN):c.719C>T (p.Thr240Met) rs137853054 0.00016
NM_025243.4(SLC19A3):c.977G>T (p.Gly326Val) rs747823282 0.00016
NM_032409.3(PINK1):c.695C>T (p.Ala232Val) rs144071530 0.00016
NM_152296.5(ATP1A3):c.2419-7C>T rs187436315 0.00016
NM_013247.5(HTRA2):c.77G>A (p.Gly26Glu) rs145946172 0.00015
NM_004562.3(PRKN):c.837C>T (p.His279=) rs149433924 0.00014
NM_022089.4(ATP13A2):c.3472C>T (p.Arg1158Cys) rs201610681 0.00014
NM_032409.3(PINK1):c.177C>T (p.Val59=) rs766471374 0.00014
NM_004082.5(DCTN1):c.3345+13C>T rs376707439 0.00013
NM_004562.3(PRKN):c.1289G>A (p.Gly430Asp) rs191486604 0.00013
NM_022089.4(ATP13A2):c.3040G>A (p.Gly1014Ser) rs202166353 0.00013
NM_001044.5(SLC6A3):c.898G>A (p.Val300Ile) rs145782788 0.00012
NM_003560.4(PLA2G6):c.16C>T (p.Arg6Cys) rs143250889 0.00012
NM_022089.4(ATP13A2):c.1171G>A (p.Val391Ile) rs113105667 0.00012
NM_198578.4(LRRK2):c.3643G>A (p.Ala1215Thr) rs143710836 0.00012
NM_000157.4(GBA1):c.680A>G (p.Asn227Ser) rs364897 0.00011
NM_003560.4(PLA2G6):c.447C>T (p.Asn149=) rs368631309 0.00011
NM_004082.5(DCTN1):c.3334A>G (p.Ser1112Gly) rs187434401 0.00011
NM_012179.4(FBXO7):c.1495G>A (p.Gly499Ser) rs369612645 0.00011
NM_198578.4(LRRK2):c.2229T>G (p.Ser743=) rs200425243 0.00011
NM_001377265.1(MAPT):c.1115C>T (p.Ala372Val) rs377402921 0.00010
NM_004082.5(DCTN1):c.2353C>T (p.Arg785Trp) rs121909344 0.00010
NM_004562.3(PRKN):c.*121A>C rs557142572 0.00010
NM_004562.3(PRKN):c.247A>G (p.Thr83Ala) rs141825163 0.00010
NM_007262.5(PARK7):c.*125G>A rs779587926 0.00010
NM_012179.4(FBXO7):c.803A>G (p.Asn268Ser) rs188111542 0.00010
NM_022089.4(ATP13A2):c.839A>G (p.Lys280Arg) rs148094721 0.00010
NM_022089.4(ATP13A2):c.844A>T (p.Ser282Cys) rs538497077 0.00010
NM_003560.4(PLA2G6):c.1799G>A (p.Arg600Gln) rs149712244 0.00009
NM_003560.4(PLA2G6):c.2222G>A (p.Arg741Gln) rs121908686 0.00009
NM_003690.5(PRKRA):c.665C>T (p.Pro222Leu) rs121434410 0.00009
NM_004606.5(TAF1):c.4155G>A (p.Thr1385=) rs202158967 0.00009
NM_022089.4(ATP13A2):c.3518C>T (p.Pro1173Leu) rs372995036 0.00009
NM_032409.3(PINK1):c.745T>G (p.Leu249Val) rs145650643 0.00009
NM_004082.5(DCTN1):c.100G>C (p.Glu34Gln) rs151052060 0.00008
NM_022089.4(ATP13A2):c.2236G>A (p.Ala746Thr) rs147277743 0.00008
NM_025243.4(SLC19A3):c.980-14A>G rs200542114 0.00008
NM_032409.3(PINK1):c.835C>T (p.Arg279Cys) rs61735932 0.00008
NM_032409.3(PINK1):c.949G>A (p.Val317Ile) rs200949139 0.00008
NM_198578.4(LRRK2):c.2771G>A (p.Arg924His) rs200795874 0.00008
NM_198578.4(LRRK2):c.309G>C (p.Gln103His) rs200926937 0.00008
NM_198578.4(LRRK2):c.683G>C (p.Cys228Ser) rs56108242 0.00008
NM_000345.4(SNCA):c.150T>G (p.His50Gln) rs201106962 0.00007
NM_004082.5(DCTN1):c.460C>T (p.Arg154Cys) rs141670992 0.00007
NM_022089.4(ATP13A2):c.3193G>A (p.Val1065Met) rs377431904 0.00007
NM_032409.3(PINK1):c.1488G>A (p.Lys496=) rs56217826 0.00007
NM_032409.3(PINK1):c.565G>A (p.Gly189Arg) rs757581951 0.00007
NM_000157.4(GBA1):c.115+1G>A rs104886460 0.00006
NM_000157.4(GBA1):c.1495G>A (p.Val499Met) rs369068553 0.00006
NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys) rs80356771 0.00006
NM_000157.4(GBA1):c.1604G>A (p.Arg535His) rs75822236 0.00006
NM_000157.4(GBA1):c.84dup (p.Leu29fs) rs387906315 0.00006
NM_000345.4(SNCA):c.391-16A>G rs371014092 0.00006
NM_001044.5(SLC6A3):c.149C>T (p.Pro50Leu) rs146798197 0.00006
NM_001257180.2(SLC20A2):c.542G>A (p.Arg181Gln) rs140059610 0.00006
NM_003560.4(PLA2G6):c.1849G>A (p.Val617Ile) rs139579057 0.00006
NM_003560.4(PLA2G6):c.2240G>A (p.Arg747Gln) rs376144077 0.00006
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter) rs121908680 0.00006
NM_003560.4(PLA2G6):c.901C>T (p.Arg301Cys) rs367854265 0.00006
NM_004082.5(DCTN1):c.1470C>T (p.Asp490=) rs199751168 0.00006
NM_004082.5(DCTN1):c.3557T>C (p.Met1186Thr) rs145819459 0.00006
NM_004562.3(PRKN):c.98G>A (p.Arg33Gln) rs147757966 0.00006
NM_004736.4(XPR1):c.1887C>A (p.Ile629=) rs761801981 0.00006
NM_007262.5(PARK7):c.328A>G (p.Thr110Ala) rs45577037 0.00006
NM_022089.4(ATP13A2):c.1243C>T (p.Arg415Trp) rs768796427 0.00006
NM_022089.4(ATP13A2):c.2529+9G>A rs200809857 0.00006
NM_022089.4(ATP13A2):c.745G>A (p.Ala249Thr) rs199661793 0.00006
NM_152296.5(ATP1A3):c.-64A>G rs373531937 0.00006
NM_152296.5(ATP1A3):c.1368C>T (p.Ser456=) rs782325595 0.00006
NM_198241.3(EIF4G1):c.3824T>A (p.Leu1275His) rs550525876 0.00006
NM_198578.4(LRRK2):c.546A>G (p.Lys182=) rs35517158 0.00006
NM_198578.4(LRRK2):c.6928A>G (p.Thr2310Ala) rs202179802 0.00006
NM_203446.3(SYNJ1):c.3697+12T>G rs763338383 0.00006
NM_003560.4(PLA2G6):c.1649G>A (p.Arg550Gln) rs376051062 0.00005
NM_004606.5(TAF1):c.4521G>A (p.Ala1507=) rs758753633 0.00005
NM_012179.4(FBXO7):c.1221G>A (p.Pro407=) rs201127594 0.00005
NM_022089.4(ATP13A2):c.1202G>A (p.Cys401Tyr) rs377186549 0.00005
NM_032409.3(PINK1):c.802C>G (p.Leu268Val) rs372280083 0.00005
NM_198578.4(LRRK2):c.1874A>G (p.His625Arg) rs200787476 0.00005
NM_000157.4(GBA1):c.887G>A (p.Arg296Gln) rs78973108 0.00004
NM_000157.4(GBA1):c.928A>G (p.Ser310Gly) rs1057942 0.00004
NM_001044.5(SLC6A3):c.580C>T (p.Pro194Ser) rs756042082 0.00004
NM_001377265.1(MAPT):c.10C>A (p.Pro4Thr) rs974837695 0.00004
NM_001377265.1(MAPT):c.1807C>T (p.Arg603Cys) rs770274373 0.00004
NM_001377265.1(MAPT):c.1881G>A (p.Ser627=) rs115142761 0.00004
NM_003560.4(PLA2G6):c.2221C>T (p.Arg741Trp) rs530348521 0.00004
NM_003560.4(PLA2G6):c.395G>A (p.Arg132His) rs763734863 0.00004
NM_003560.4(PLA2G6):c.481C>T (p.Arg161Cys) rs767260174 0.00004
NM_003560.4(PLA2G6):c.854G>A (p.Arg285His) rs372511574 0.00004
NM_003560.4(PLA2G6):c.898G>A (p.Ala300Thr) rs528966598 0.00004
NM_004562.3(PRKN):c.219G>A (p.Pro73=) rs139083077 0.00004
NM_004562.3(PRKN):c.276G>A (p.Ala92=) rs200256562 0.00004
NM_004562.3(PRKN):c.353G>C (p.Gly118Ala) rs144001694 0.00004
NM_007262.5(PARK7):c.471_473del (p.Pro158del) rs764877312 0.00004
NM_022089.4(ATP13A2):c.*155C>T rs762111359 0.00004
NM_022089.4(ATP13A2):c.2746G>A (p.Val916Met) rs768674400 0.00004
NM_022089.4(ATP13A2):c.2828C>T (p.Thr943Ile) rs1401431520 0.00004
NM_022089.4(ATP13A2):c.3443G>A (p.Arg1148His) rs533548757 0.00004
NM_025243.4(SLC19A3):c.337T>C (p.Tyr113His) rs145999922 0.00004
NM_032409.3(PINK1):c.139G>C (p.Gly47Arg) rs746940423 0.00004
NM_032409.3(PINK1):c.1474C>T (p.Arg492Ter) rs34208370 0.00004
NM_032409.3(PINK1):c.620G>A (p.Arg207Gln) rs759468742 0.00004
NM_032409.3(PINK1):c.865C>A (p.Pro289Thr) rs777088052 0.00004
NM_198578.4(LRRK2):c.1546A>G (p.Met516Val) rs746747483 0.00004
NM_198578.4(LRRK2):c.2758G>A (p.Ala920Thr) rs201184634 0.00004
NM_198578.4(LRRK2):c.3018A>G (p.Ile1006Met) rs113217062 0.00004
NM_198578.4(LRRK2):c.3595C>T (p.Arg1199Trp) rs746433333 0.00004
NM_000157.4(GBA1):c.762-1G>C rs1237637353 0.00003
NM_001257180.2(SLC20A2):c.678C>T (p.Phe226=) rs116687117 0.00003
NM_001377265.1(MAPT):c.1042T>C (p.Ser348Pro) rs753640366 0.00003
NM_003560.4(PLA2G6):c.116G>A (p.Arg39Gln) rs144910769 0.00003
NM_003560.4(PLA2G6):c.2239C>T (p.Arg747Trp) rs121908687 0.00003
NM_003560.4(PLA2G6):c.2370_2371del (p.Tyr790_Glu791delinsTer) rs587784353 0.00003
NM_004082.5(DCTN1):c.414+1G>A rs576198476 0.00003
NM_004562.3(PRKN):c.1001G>A (p.Arg334His) rs746215864 0.00003
NM_012179.4(FBXO7):c.465G>A (p.Ala155=) rs765523844 0.00003
NM_013247.5(HTRA2):c.618C>G (p.Val206=) rs186272815 0.00003
NM_018206.6(VPS35):c.851G>A (p.Arg284Gln) rs771276024 0.00003
NM_022089.4(ATP13A2):c.1103C>T (p.Thr368Ile) rs1033088325 0.00003
NM_022089.4(ATP13A2):c.1903C>T (p.Gln635Ter) rs773246271 0.00003
NM_152296.5(ATP1A3):c.2418+18C>T rs369674143 0.00003
NM_198578.4(LRRK2):c.137C>T (p.Thr46Met) rs781394575 0.00003
NM_198578.4(LRRK2):c.1987T>C (p.Ser663Pro) rs78154388 0.00003
NM_198578.4(LRRK2):c.3091T>C (p.Cys1031Arg) rs201552816 0.00003
NM_198578.4(LRRK2):c.4321C>T (p.Arg1441Cys) rs33939927 0.00003
NM_198578.4(LRRK2):c.5870G>T (p.Arg1957Leu) rs201012950 0.00003
NM_198578.4(LRRK2):c.5931C>T (p.His1977=) rs201119482 0.00003
NM_198578.4(LRRK2):c.7382C>T (p.Ala2461Val) rs201037550 0.00003
NM_000157.4(GBA1):c.1346C>T (p.Thr449Met) rs757930613 0.00002
NM_000157.4(GBA1):c.247C>T (p.Arg83Cys) rs1141812 0.00002
NM_000157.4(GBA1):c.946C>T (p.Arg316Cys) rs1264734195 0.00002
NM_001377265.1(MAPT):c.2392C>T (p.Arg798Trp) rs63750424 0.00002
NM_004082.5(DCTN1):c.2244C>G (p.Asp748Glu) rs751069902 0.00002
NM_022089.4(ATP13A2):c.1896G>A (p.Ser632=) rs575694238 0.00002
NM_022089.4(ATP13A2):c.3458G>A (p.Arg1153Gln) rs772666861 0.00002
NM_032409.3(PINK1):c.857C>T (p.Pro286Leu) rs146691996 0.00002
NM_032409.3(PINK1):c.959+4A>T rs758604046 0.00002
NM_152296.5(ATP1A3):c.2819+12G>A rs782653272 0.00002
NM_198578.4(LRRK2):c.7186_7187dup (p.Val2396_Met2397insTer) rs281865056 0.00002
NM_000157.4(GBA1):c.1043C>G (p.Ala348Gly) rs78396650 0.00001
NM_000157.4(GBA1):c.104C>T (p.Ser35Leu) rs757041827 0.00001
NM_000157.4(GBA1):c.1085C>T (p.Thr362Ile) rs76539814 0.00001
NM_000157.4(GBA1):c.1090G>A (p.Gly364Arg) rs121908305 0.00001
NM_000157.4(GBA1):c.1246G>A (p.Gly416Ser) rs121908311 0.00001
NM_000157.4(GBA1):c.1297G>T (p.Val433Leu) rs80356769 0.00001
NM_000157.4(GBA1):c.259C>T (p.Arg87Trp) rs1141814 0.00001
NM_000157.4(GBA1):c.595_596del (p.Leu199fs) rs749714463 0.00001
NM_000157.4(GBA1):c.604C>T (p.Arg202Ter) rs1009850780 0.00001
NM_000157.4(GBA1):c.703T>C (p.Ser235Pro) rs1064644 0.00001
NM_000157.4(GBA1):c.754T>A (p.Phe252Ile) rs381737 0.00001
NM_000157.4(GBA1):c.764T>A (p.Phe255Tyr) rs74500255 0.00001
NM_000157.4(GBA1):c.896T>C (p.Ile299Thr) rs794727908 0.00001
NM_001044.5(SLC6A3):c.1603G>A (p.Val535Met) rs553219765 0.00001
NM_001377265.1(MAPT):c.89C>T (p.Thr30Ile) rs374996228 0.00001
NM_002609.4(PDGFRB):c.419C>T (p.Thr140Met) rs138830253 0.00001
NM_003560.4(PLA2G6):c.1077G>A (p.Ser359=) rs368497893 0.00001
NM_003560.4(PLA2G6):c.1427+1G>A rs750939090 0.00001
NM_003560.4(PLA2G6):c.1531C>G (p.Leu511Val) rs886057503 0.00001
NM_003560.4(PLA2G6):c.2236G>T (p.Ala746Ser) rs563222818 0.00001
NM_003560.4(PLA2G6):c.68G>A (p.Arg23Gln) rs372291638 0.00001
NM_004082.5(DCTN1):c.1837C>T (p.Pro613Ser) rs372808221 0.00001
NM_004082.5(DCTN1):c.2545G>A (p.Ala849Thr) rs769512188 0.00001
NM_004082.5(DCTN1):c.2686C>G (p.Leu896Val) rs545910781 0.00001
NM_004082.5(DCTN1):c.43G>A (p.Gly15Ser) rs72466482 0.00001
NM_004181.5(UCHL1):c.175-4G>A rs778240876 0.00001
NM_004562.3(PRKN):c.1288G>A (p.Gly430Ser) rs1226997153 0.00001
NM_004562.3(PRKN):c.1A>G (p.Met1Val) rs772786691 0.00001
NM_004562.3(PRKN):c.551A>T (p.Asp184Val) rs142383136 0.00001
NM_007262.5(PARK7):c.460A>G (p.Thr154Ala) rs1472900688 0.00001
NM_012179.4(FBXO7):c.1388C>T (p.Ser463Leu) rs1182785309 0.00001
NM_012179.4(FBXO7):c.521C>T (p.Ser174Leu) rs376455464 0.00001
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_022089.4(ATP13A2):c.-99G>C rs569658051 0.00001
NM_022089.4(ATP13A2):c.1169A>C (p.His390Pro) rs376004873 0.00001
NM_022089.4(ATP13A2):c.1314C>A (p.Leu438=) rs764435162 0.00001
NM_022089.4(ATP13A2):c.1420C>G (p.Pro474Ala) rs530658980 0.00001
NM_022089.4(ATP13A2):c.1657C>T (p.Arg553Ter) rs1264582344 0.00001
NM_022089.4(ATP13A2):c.1774G>A (p.Asp592Asn) rs750921184 0.00001
NM_022089.4(ATP13A2):c.2529+1G>A rs776448394 0.00001
NM_032409.3(PINK1):c.1123+4G>C rs760845466 0.00001
NM_032409.3(PINK1):c.1251+5G>A rs756873744 0.00001
NM_032409.3(PINK1):c.1573G>A (p.Asp525Asn) rs531477772 0.00001
NM_032409.3(PINK1):c.371C>T (p.Ala124Val) rs1274588239 0.00001
NM_032409.3(PINK1):c.388-10C>G rs763983499 0.00001
NM_152296.5(ATP1A3):c.1218C>T (p.His406=) rs1238469762 0.00001
NM_152296.5(ATP1A3):c.2968G>A (p.Val990Ile) rs781786336 0.00001
NM_152296.5(ATP1A3):c.384C>G (p.Ala128=) rs782662538 0.00001
NM_198578.4(LRRK2):c.2333G>A (p.Ser778Asn) rs1356461363 0.00001
NM_198578.4(LRRK2):c.4117G>A (p.Val1373Met) rs756381499 0.00001
NM_198578.4(LRRK2):c.500T>G (p.Met167Arg) rs201411683 0.00001
NM_198578.4(LRRK2):c.6220G>A (p.Val2074Ile) rs200498558 0.00001
NM_198578.4(LRRK2):c.7324C>T (p.Arg2442Cys) rs199893519 0.00001
GRCh37/hg19 4q22.1(chr4:90647764-90758128)
GRCh37/hg19 6q26(chr6:161969922-161990424)
GRCh37/hg19 6q26(chr6:162206818-162206900)
GRCh37/hg19 6q26(chr6:162394320-162475157)
GRCh37/hg19 6q26(chr6:162475128-162475157)
GRCh37/hg19 6q26(chr6:162622150-162622256)
GRCh37/hg19 6q26(chr6:162622150-162683772)
GRCh37/hg19 6q26(chr6:162683576-162683772)
GRCh37/hg19 6q26(chr6:162864400-162864441)
NM_000157.4(GBA1):c.*92G>A
NM_000157.4(GBA1):c.1052G>C (p.Trp351Ser) rs1553217294
NM_000157.4(GBA1):c.10T>C (p.Ser4Pro) rs2148083300
NM_000157.4(GBA1):c.1192C>T (p.Arg398Ter) rs121908309
NM_000157.4(GBA1):c.1249T>G (p.Trp417Gly) rs1450426641
NM_000157.4(GBA1):c.1265_1319del (p.Leu422fs) rs80356768
NM_000157.4(GBA1):c.1388G>C (p.Ser463Thr) rs1571965884
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro) rs421016
NM_000157.4(GBA1):c.1506-10_1506-9delinsGA rs1557900564
NM_000157.4(GBA1):c.203dup (p.Thr69fs) rs1170895261
NM_000157.4(GBA1):c.635C>G (p.Ser212Ter) rs1671872221
NM_000157.4(GBA1):c.653G>A (p.Trp218Ter) rs867929413
NM_000157.4(GBA1):c.661C>A (p.Pro221Thr) rs866075757
NM_000157.4(GBA1):c.914del (p.Pro305fs) rs1366567865
NM_000345.4(SNCA):c.*77C>A rs145304567
NM_000345.4(SNCA):c.243A>G (p.Thr81=) rs568436589
NM_001005741.2(GBA1):c.[1448T>C;1483G>C;1497G>C]
NM_001044.5(SLC6A3):c.1677G>A (p.Ala559=) rs767241571
NM_001377265.1(MAPT):c.2013T>G (p.Asn671Lys) rs63750756
NM_001377265.1(MAPT):c.2078C>T (p.Pro693Leu) rs63751273
NM_003560.4(PLA2G6):c.1674del (p.Leu560fs) rs587784336
NM_003560.4(PLA2G6):c.1685A>G (p.Glu562Gly) rs751508677
NM_003560.4(PLA2G6):c.1786C>T (p.Leu596Phe) rs2087181118
NM_003560.4(PLA2G6):c.1904G>A (p.Arg635Gln) rs387906863
NM_003690.5(PRKRA):c.784+15del rs200581051
NM_004082.5(DCTN1):c.1504C>T (p.Arg502Cys) rs145958900
NM_004082.5(DCTN1):c.3537G>C (p.Lys1179Asn) rs148146325
NM_004181.5(UCHL1):c.*250T>C rs564857603
NM_004181.5(UCHL1):c.326-4del rs3214812
NM_004562.3(PRKN):c.*140A>G rs1182122095
NM_004562.3(PRKN):c.1138G>C (p.Val380Leu) rs1801582
NM_004562.3(PRKN):c.155del (p.Asn52fs) rs754809877
NM_004562.3(PRKN):c.172-38dup rs751742289
NM_004562.3(PRKN):c.73C>T (p.Gln25Ter) rs1440010564
NM_004736.4(XPR1):c.1135-8dup rs113553362
NM_007262.5(PARK7):c.105dup (p.Ala36fs) rs781600849
NM_007262.5(PARK7):c.500C>G (p.Ala167Gly) rs886046546
NM_012179.4(FBXO7):c.1536_1539del (p.Arg513fs) rs772175765
NM_012179.4(FBXO7):c.674C>G (p.Pro225Arg) rs112660869
NM_018206.6(VPS35):c.-19C>T rs573920049
NM_018206.6(VPS35):c.1858G>A (p.Asp620Asn) rs188286943
NM_018206.6(VPS35):c.915-16T>G rs757051230
NM_022089.4(ATP13A2):c.-171G>C rs1350517492
NM_022089.4(ATP13A2):c.2151C>T (p.Ser717=) rs544545629
NM_022089.4(ATP13A2):c.2858C>T (p.Thr953Met) rs148721722
NM_022089.4(ATP13A2):c.3418C>T (p.Gln1140Ter) rs1057519289
NM_025243.4(SLC19A3):c.597dup (p.His200fs) rs773140674
NM_032409.3(PINK1):c.1220G>A (p.Arg407Gln) rs556540177
NM_152296.5(ATP1A3):c.-130GACG[3] rs879996553
NM_152296.5(ATP1A3):c.1839G>C (p.Thr613=) rs376852509
NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn)
NM_152296.5(ATP1A3):c.2443G>A (p.Glu815Lys) rs387907281
NM_152296.5(ATP1A3):c.2767G>A (p.Asp923Asn) rs267606670
NM_152296.5(ATP1A3):c.2839G>A (p.Gly947Arg) rs398122887
NM_198578.4(LRRK2):c.1240G>A (p.Val414Ile) rs1565682626
NM_198578.4(LRRK2):c.2689+19_2689+20dup rs66810434
NM_198578.4(LRRK2):c.2689+20dup rs66810434
NM_198578.4(LRRK2):c.3497-8del rs201739149
NM_198578.4(LRRK2):c.4193G>A (p.Arg1398His) rs7133914
NM_198578.4(LRRK2):c.5183G>T (p.Arg1728Leu) rs145364431
NM_198578.4(LRRK2):c.6187_6191del (p.Leu2062_Leu2063insTer) rs111739194
NM_198578.4(LRRK2):c.6844-8dup rs72546334
NM_198578.4(LRRK2):c.7146A>C (p.Lys2382Asn) rs919570241
NM_198578.4(LRRK2):c.7430G>A (p.Arg2477Gln) rs146428335
NM_198578.4(LRRK2):c.936G>T (p.Ala312=) rs41286466

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