ClinVar Miner

List of variants studied for Parkinson disease by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (32):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 176
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HGVS dbSNP
NM_004562.3(PRKN):c.1289G>A (p.Gly430Asp) rs191486604
NM_004562.3(PRKN):c.155del (p.Asn52fs) rs754809877
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.838G>A (p.Asp280Asn)
NM_012179.4(FBXO7):c.1263_1267CATTC[3] (p.Tyr425fs) rs749534144
NM_012179.4(FBXO7):c.722_723CT[2] (p.Cys243fs) rs1290655316
NM_022089.4(ATP13A2):c.*124C>T rs15786
NM_022089.4(ATP13A2):c.*130C>T rs189334432
NM_022089.4(ATP13A2):c.*155C>T rs762111359
NM_022089.4(ATP13A2):c.*158T>C rs185521359
NM_022089.4(ATP13A2):c.*243A>C rs777596557
NM_022089.4(ATP13A2):c.*251A>G rs535432261
NM_022089.4(ATP13A2):c.-151C>T rs886045583
NM_022089.4(ATP13A2):c.-170C>T rs150122517
NM_022089.4(ATP13A2):c.1005C>T (p.Ala335=) rs56290406
NM_022089.4(ATP13A2):c.1040-6C>T rs886045582
NM_022089.4(ATP13A2):c.106-14C>T rs199706883
NM_022089.4(ATP13A2):c.106-8G>A rs200587951
NM_022089.4(ATP13A2):c.1065G>A (p.Thr355=) rs750819290
NM_022089.4(ATP13A2):c.1128C>T (p.Cys376=) rs148970081
NM_022089.4(ATP13A2):c.1163G>A (p.Gly388Glu) rs769588580
NM_022089.4(ATP13A2):c.1195+10G>A rs55689004
NM_022089.4(ATP13A2):c.1195+9C>T rs117758987
NM_022089.4(ATP13A2):c.1203C>T (p.Cys401=) rs148026506
NM_022089.4(ATP13A2):c.1208C>A (p.Ala403Glu) rs373349384
NM_022089.4(ATP13A2):c.1244G>A (p.Arg415Gln) rs190746040
NM_022089.4(ATP13A2):c.1309C>G (p.Leu437Val) rs149372969
NM_022089.4(ATP13A2):c.1314C>A (p.Leu438=) rs764435162
NM_022089.4(ATP13A2):c.1420C>G (p.Pro474Ala) rs530658980
NM_022089.4(ATP13A2):c.1442C>T (p.Thr481Met) rs752000462
NM_022089.4(ATP13A2):c.1449C>T (p.Tyr483=) rs750600448
NM_022089.4(ATP13A2):c.1617G>T (p.Leu539=) rs61739752
NM_022089.4(ATP13A2):c.1744G>A (p.Gly582Ser) rs886045581
NM_022089.4(ATP13A2):c.1777_1778del (p.Ala594fs) rs1557683241
NM_022089.4(ATP13A2):c.1815C>T (p.Pro605=) rs2076603
NM_022089.4(ATP13A2):c.1926G>A (p.Ala642=) rs200916673
NM_022089.4(ATP13A2):c.1947C>G (p.Pro649=) rs369722835
NM_022089.4(ATP13A2):c.2252-11A>G rs775547036
NM_022089.4(ATP13A2):c.2263C>G (p.Gln755Glu) rs200924194
NM_022089.4(ATP13A2):c.2285G>A (p.Arg762Gln) rs766899425
NM_022089.4(ATP13A2):c.2331C>T (p.His777=) rs144708504
NM_022089.4(ATP13A2):c.2381T>C (p.Met794Thr) rs151222153
NM_022089.4(ATP13A2):c.2406C>T (p.Gly802=) rs886045580
NM_022089.4(ATP13A2):c.2407G>A (p.Val803Ile) rs747785443
NM_022089.4(ATP13A2):c.2529+9G>A rs200809857
NM_022089.4(ATP13A2):c.2563G>A (p.Ala855Thr) rs886045579
NM_022089.4(ATP13A2):c.2609+10C>T rs759204814
NM_022089.4(ATP13A2):c.2619G>C (p.Val873=) rs199994961
NM_022089.4(ATP13A2):c.2637C>T (p.Gly879=) rs9435662
NM_022089.4(ATP13A2):c.2790G>A (p.Ser930=) rs3738815
NM_022089.4(ATP13A2):c.2808C>T (p.Tyr936=) rs886045578
NM_022089.4(ATP13A2):c.2859G>A (p.Thr953=) rs144557304
NM_022089.4(ATP13A2):c.2952G>A (p.Ala984=) rs138212767
NM_022089.4(ATP13A2):c.2970G>A (p.Val990=) rs761421
NM_022089.4(ATP13A2):c.2983del (p.Ala995fs) rs1414662479
NM_022089.4(ATP13A2):c.3057del (p.Tyr1020fs) rs765632065
NM_022089.4(ATP13A2):c.3084-3C>T rs7531163
NM_022089.4(ATP13A2):c.3111C>T (p.Ala1037=) rs538236343
NM_022089.4(ATP13A2):c.3144C>G (p.Thr1048=) rs56126202
NM_022089.4(ATP13A2):c.3192C>T (p.Ala1064=) rs9435659
NM_022089.4(ATP13A2):c.3193G>A (p.Val1065Met) rs377431904
NM_022089.4(ATP13A2):c.3258G>C (p.Ala1086=) rs377253172
NM_022089.4(ATP13A2):c.3297C>T (p.Pro1099=) rs756650754
NM_022089.4(ATP13A2):c.3301C>T (p.Leu1101Phe) rs886045577
NM_022089.4(ATP13A2):c.3378C>T (p.Leu1126=) rs773914880
NM_022089.4(ATP13A2):c.3406-14C>T rs139088170
NM_022089.4(ATP13A2):c.3429C>T (p.Pro1143=) rs377703085
NM_022089.4(ATP13A2):c.3516G>A (p.Pro1172=) rs3170740
NM_022089.4(ATP13A2):c.3539G>A (p.Arg1180Lys) rs771312962
NM_022089.4(ATP13A2):c.396G>A (p.Ala132=) rs140631323
NM_022089.4(ATP13A2):c.951C>T (p.Cys317=) rs148391179
NM_032409.3(PINK1):c.1196C>T (p.Pro399Leu) rs119451946
NM_032409.3(PINK1):c.1212C>G (p.Tyr404Ter) rs747239996
NM_032409.3(PINK1):c.322del (p.Leu108fs) rs1557559393
NM_032409.3(PINK1):c.665G>A (p.Trp222Ter) rs777160388
NM_032409.3(PINK1):c.774C>A (p.Tyr258Ter) rs756783990
NM_198578.4(LRRK2):c.*1018G>T rs200782338
NM_198578.4(LRRK2):c.*1035T>C rs201488873
NM_198578.4(LRRK2):c.*1069A>G rs199823070
NM_198578.4(LRRK2):c.*1140A>T rs886049367
NM_198578.4(LRRK2):c.*1181C>T rs147956597
NM_198578.4(LRRK2):c.*1182C>T rs376228552
NM_198578.4(LRRK2):c.*1186C>T rs886049368
NM_198578.4(LRRK2):c.*123A>C rs73277568
NM_198578.4(LRRK2):c.*1279T>C rs886049369
NM_198578.4(LRRK2):c.*131del rs572544182
NM_198578.4(LRRK2):c.*1388T>C rs200410756
NM_198578.4(LRRK2):c.*1446T>A rs12422278
NM_198578.4(LRRK2):c.*1464T>G rs17491828
NM_198578.4(LRRK2):c.*1482A>G rs17491835
NM_198578.4(LRRK2):c.*148T>C rs202205832
NM_198578.4(LRRK2):c.*223C>T rs886049364
NM_198578.4(LRRK2):c.*346A>G rs17520676
NM_198578.4(LRRK2):c.*364A>C rs10878441
NM_198578.4(LRRK2):c.*384C>T rs3886747
NM_198578.4(LRRK2):c.*405C>T rs200503610
NM_198578.4(LRRK2):c.*470G>T rs200678400
NM_198578.4(LRRK2):c.*615T>A rs201422404
NM_198578.4(LRRK2):c.*721G>T rs886049365
NM_198578.4(LRRK2):c.*736G>C rs1365770
NM_198578.4(LRRK2):c.*84G>A rs201671072
NM_198578.4(LRRK2):c.*934_*936dup rs367772598
NM_198578.4(LRRK2):c.*935_*936dup rs367772598
NM_198578.4(LRRK2):c.*936del rs367772598
NM_198578.4(LRRK2):c.*936dup rs367772598
NM_198578.4(LRRK2):c.*96T>C rs66737902
NM_198578.4(LRRK2):c.*971C>A rs200935645
NM_198578.4(LRRK2):c.*979T>C rs10784548
NM_198578.4(LRRK2):c.-124G>C rs112643657
NM_198578.4(LRRK2):c.-44G>A rs765232448
NM_198578.4(LRRK2):c.1000G>A (p.Glu334Lys) rs78501232
NM_198578.4(LRRK2):c.1102-10C>A rs7955902
NM_198578.4(LRRK2):c.1182-4A>G rs7135747
NM_198578.4(LRRK2):c.1446A>G (p.Ala482=) rs757454147
NM_198578.4(LRRK2):c.1653C>G (p.Asn551Lys) rs7308720
NM_198578.4(LRRK2):c.2070+9T>A rs201389324
NM_198578.4(LRRK2):c.2167A>G (p.Ile723Val) rs10878307
NM_198578.4(LRRK2):c.2264C>T (p.Pro755Leu) rs34410987
NM_198578.4(LRRK2):c.2378G>T (p.Arg793Met) rs35173587
NM_198578.4(LRRK2):c.2501-9dup rs36220740
NM_198578.4(LRRK2):c.2588A>G (p.Asn863Ser) rs555679009
NM_198578.4(LRRK2):c.2689+20dup rs66810434
NM_198578.4(LRRK2):c.2752C>T (p.Arg918Ter) rs957794216
NM_198578.4(LRRK2):c.2826T>C (p.His942=) rs886049357
NM_198578.4(LRRK2):c.2857T>C (p.Leu953=) rs7966550
NM_198578.4(LRRK2):c.2900A>G (p.His967Arg) rs533409083
NM_198578.4(LRRK2):c.2987A>T (p.Asp996Val) rs886049358
NM_198578.4(LRRK2):c.3026A>C (p.His1009Pro) rs375146075
NM_198578.4(LRRK2):c.3333G>T (p.Gln1111His) rs78365431
NM_198578.4(LRRK2):c.3429C>T (p.Ser1143=) rs142989436
NM_198578.4(LRRK2):c.3435A>C (p.Ser1145=) rs886049359
NM_198578.4(LRRK2):c.344A>C (p.His115Pro) rs201439315
NM_198578.4(LRRK2):c.3497-8del rs201739149
NM_198578.4(LRRK2):c.3595C>A (p.Arg1199=) rs746433333
NM_198578.4(LRRK2):c.3678A>C (p.Leu1226Phe) rs746701556
NM_198578.4(LRRK2):c.3777+7C>T rs41286480
NM_198578.4(LRRK2):c.3778-9C>T rs114948984
NM_198578.4(LRRK2):c.3864G>A (p.Met1288Ile) rs747301221
NM_198578.4(LRRK2):c.3969A>G (p.Gln1323=) rs372245035
NM_198578.4(LRRK2):c.4037del (p.Gly1346fs) rs1565737297
NM_198578.4(LRRK2):c.4111A>G (p.Ile1371Val) rs17466213
NM_198578.4(LRRK2):c.4193G>A (p.Arg1398His) rs7133914
NM_198578.4(LRRK2):c.4229C>T (p.Thr1410Met) rs72546327
NM_198578.4(LRRK2):c.4269G>A (p.Lys1423=) rs11175964
NM_198578.4(LRRK2):c.4317+12del rs200829235
NM_198578.4(LRRK2):c.457T>C (p.Leu153=) rs10878245
NM_198578.4(LRRK2):c.4624C>T (p.Pro1542Ser) rs33958906
NM_198578.4(LRRK2):c.4627A>G (p.Ile1543Val) rs201540075
NM_198578.4(LRRK2):c.4828-9A>T rs199843206
NM_198578.4(LRRK2):c.4872C>A (p.Gly1624=) rs1427263
NM_198578.4(LRRK2):c.4883G>C (p.Arg1628Pro) rs33949390
NM_198578.4(LRRK2):c.4911A>G (p.Lys1637=) rs11176013
NM_198578.4(LRRK2):c.4930A>G (p.Asn1644Asp) rs886049361
NM_198578.4(LRRK2):c.4934A>G (p.Tyr1645Cys) rs759886320
NM_198578.4(LRRK2):c.4937T>C (p.Met1646Thr) rs35303786
NM_198578.4(LRRK2):c.4939T>A (p.Ser1647Thr) rs11564148
NM_198578.4(LRRK2):c.5163A>G (p.Ser1721=) rs79909111
NM_198578.4(LRRK2):c.5270A>G (p.Asn1757Ser) rs368762897
NM_198578.4(LRRK2):c.5457T>C (p.Gly1819=) rs10878371
NM_198578.4(LRRK2):c.5713G>C (p.Val1905Leu) rs754436306
NM_198578.4(LRRK2):c.6241A>G (p.Asn2081Asp) rs33995883
NM_198578.4(LRRK2):c.6281-3dup rs780258764
NM_198578.4(LRRK2):c.6324G>A (p.Glu2108=) rs10878405
NM_198578.4(LRRK2):c.6582T>C (p.Val2194=) rs773085638
NM_198578.4(LRRK2):c.6688G>A (p.Glu2230Lys) rs201317931
NM_198578.4(LRRK2):c.6801C>T (p.Thr2267=) rs148143226
NM_198578.4(LRRK2):c.6844-14_6844-13insA rs150964683
NM_198578.4(LRRK2):c.7062C>T (p.Ile2354=) rs768811495
NM_198578.4(LRRK2):c.709_711AAT[1] (p.Asn238del) rs886049355
NM_198578.4(LRRK2):c.7153G>A (p.Gly2385Arg) rs34778348
NM_198578.4(LRRK2):c.7155A>G (p.Gly2385=) rs33962975
NM_198578.4(LRRK2):c.7190T>C (p.Met2397Thr) rs3761863
NM_198578.4(LRRK2):c.7483G>A (p.Val2495Ile) rs150062967
NM_198578.4(LRRK2):c.867C>T (p.Asn289=) rs17490713
NM_198578.4(LRRK2):c.936G>T (p.Ala312=) rs41286466

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