ClinVar Miner

List of variants in gene ATP13A2 studied for Parkinson disease

Included ClinVar conditions (32):
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Gene type:
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Total variants: 155
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HGVS dbSNP
ATP13A2, 1-BP DEL, 3057C
ATP13A2, 22-BP DUP
NC_000001.10:g.(?_17318209)_(17319096_?)del
NM_022089.4(ATP13A2):c.*120A>T rs41273151
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.*24C>T rs375521810
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.1017G>C (p.Met339Ile)
NM_022089.4(ATP13A2):c.1039+6C>T rs565724504
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.1099_1100GA[3] (p.Thr368fs) rs762033589
NM_022089.4(ATP13A2):c.1103C>T (p.Thr368Ile)
NM_022089.4(ATP13A2):c.1126T>C (p.Cys376Arg)
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.1171G>A (p.Val391Ile) rs113105667
NM_022089.4(ATP13A2):c.1195+10G>A rs55689004
NM_022089.4(ATP13A2):c.1195+7G>A rs1407939803
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.1306+5G>A rs786205056
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.132A>G (p.Pro44=) rs200816691
NM_022089.4(ATP13A2):c.1399G>A (p.Val467Met)
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.1510G>C (p.Gly504Arg) rs121918227
NM_022089.4(ATP13A2):c.1542+3G>A rs747456787
NM_022089.4(ATP13A2):c.1545G>A (p.Thr515=) rs373005131
NM_022089.4(ATP13A2):c.1614C>T (p.Pro538=) rs56351817
NM_022089.4(ATP13A2):c.1617G>T (p.Leu539=) rs61739752
NM_022089.4(ATP13A2):c.1630C>T (p.Arg544Cys)
NM_022089.4(ATP13A2):c.1634G>A (p.Arg545His)
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.1831C>A (p.Gln611Lys) rs770682887
NM_022089.4(ATP13A2):c.1876C>T (p.His626Tyr)
NM_022089.4(ATP13A2):c.1895C>T (p.Ser632Leu) rs376070950
NM_022089.4(ATP13A2):c.1896G>A (p.Ser632=)
NM_022089.4(ATP13A2):c.1903C>T (p.Gln635Ter) rs773246271
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.2093T>C (p.Val698Ala) rs61734958
NM_022089.4(ATP13A2):c.212G>T (p.Trp71Leu)
NM_022089.4(ATP13A2):c.2158G>T (p.Gly720Trp) rs865939676
NM_022089.4(ATP13A2):c.2236G>A (p.Ala746Thr) rs147277743
NM_022089.4(ATP13A2):c.2252-11A>G rs775547036
NM_022089.4(ATP13A2):c.2260C>G (p.Leu754Val)
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.233G>A (p.Arg78Gln)
NM_022089.4(ATP13A2):c.2348G>A (p.Arg783Gln) rs137955309
NM_022089.4(ATP13A2):c.2367C>T (p.Leu789=) rs140048110
NM_022089.4(ATP13A2):c.2381T>C (p.Met794Thr) rs151222153
NM_022089.4(ATP13A2):c.2404G>A (p.Gly802Ser) rs752487771
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.2412G>A (p.Lys804=) rs978493820
NM_022089.4(ATP13A2):c.2529+9G>A rs200809857
NM_022089.4(ATP13A2):c.2552_2553del (p.Phe851fs) rs587776890
NM_022089.4(ATP13A2):c.2557C>G (p.Arg853Gly)
NM_022089.4(ATP13A2):c.2561T>G (p.Met854Arg) rs587777053
NM_022089.4(ATP13A2):c.2563G>A (p.Ala855Thr) rs886045579
NM_022089.4(ATP13A2):c.2609+10C>T rs759204814
NM_022089.4(ATP13A2):c.2610-9T>C rs376189607
NM_022089.4(ATP13A2):c.2619G>C (p.Val873=) rs199994961
NM_022089.4(ATP13A2):c.2629G>A (p.Gly877Arg) rs144701072
NM_022089.4(ATP13A2):c.2637C>T (p.Gly879=) rs9435662
NM_022089.4(ATP13A2):c.2640C>T (p.Ala880=) rs567287489
NM_022089.4(ATP13A2):c.2724G>A (p.Ser908=) rs79724242
NM_022089.4(ATP13A2):c.2746G>A (p.Val916Met) rs768674400
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.2828C>T (p.Thr943Ile)
NM_022089.4(ATP13A2):c.2836A>T (p.Ile946Phe) rs55708915
NM_022089.4(ATP13A2):c.2859G>A (p.Thr953=) rs144557304
NM_022089.4(ATP13A2):c.2899G>C (p.Asp967His) rs772870846
NM_022089.4(ATP13A2):c.2942C>T (p.Thr981Met) rs148201608
NM_022089.4(ATP13A2):c.2951C>T (p.Ala984Val)
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.2972G>A (p.Arg991Gln)
NM_022089.4(ATP13A2):c.2978C>T (p.Pro993Leu)
NM_022089.4(ATP13A2):c.2983del (p.Ala995fs) rs1414662479
NM_022089.4(ATP13A2):c.2995G>A (p.Val999Met)
NM_022089.4(ATP13A2):c.2T>G (p.Met1Arg) rs1557729552
NM_022089.4(ATP13A2):c.3057del (p.Tyr1020fs) rs765632065
NM_022089.4(ATP13A2):c.3084-10G>T rs368908107
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.3153_3154CT[2] (p.Leu1053fs)
NM_022089.4(ATP13A2):c.3175C>T (p.Leu1059Phe) rs764410859
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.3277G>C (p.Val1093Leu) rs1057522952
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.3314C>T (p.Pro1105Leu)
NM_022089.4(ATP13A2):c.3329A>G (p.Asn1110Ser)
NM_022089.4(ATP13A2):c.3378C>T (p.Leu1126=) rs773914880
NM_022089.4(ATP13A2):c.3405+9C>T rs374766933
NM_022089.4(ATP13A2):c.3406-14C>T rs139088170
NM_022089.4(ATP13A2):c.3409G>A (p.Val1137Met)
NM_022089.4(ATP13A2):c.3429C>T (p.Pro1143=) rs377703085
NM_022089.4(ATP13A2):c.3472C>T (p.Arg1158Cys) rs201610681
NM_022089.4(ATP13A2):c.3473G>A (p.Arg1158His) rs544885605
NM_022089.4(ATP13A2):c.3476T>C (p.Phe1159Ser) rs1553164387
NM_022089.4(ATP13A2):c.348-9_351del rs749798211
NM_022089.4(ATP13A2):c.3516G>A (p.Pro1172=) rs3170740
NM_022089.4(ATP13A2):c.3535del (p.Pro1178_Leu1179insTer)
NM_022089.4(ATP13A2):c.3539G>A (p.Arg1180Lys) rs771312962
NM_022089.4(ATP13A2):c.35C>T (p.Thr12Met)
NM_022089.4(ATP13A2):c.385C>T (p.Arg129Trp) rs1318096890
NM_022089.4(ATP13A2):c.396G>A (p.Ala132=) rs140631323
NM_022089.4(ATP13A2):c.431A>T (p.Asp144Val)
NM_022089.4(ATP13A2):c.453C>T (p.Ser151=) rs55979991
NM_022089.4(ATP13A2):c.472G>A (p.Gly158Arg)
NM_022089.4(ATP13A2):c.477+2T>G rs758014228
NM_022089.4(ATP13A2):c.490C>T (p.Arg164Trp) rs199624796
NM_022089.4(ATP13A2):c.508G>A (p.Gly170Ser) rs762075619
NM_022089.4(ATP13A2):c.509G>T (p.Gly170Val)
NM_022089.4(ATP13A2):c.574C>T (p.Arg192Cys)
NM_022089.4(ATP13A2):c.649G>A (p.Gly217Ser)
NM_022089.4(ATP13A2):c.656A>G (p.Asn219Ser)
NM_022089.4(ATP13A2):c.658G>A (p.Val220Met)
NM_022089.4(ATP13A2):c.706-3C>T
NM_022089.4(ATP13A2):c.745G>A (p.Ala249Thr) rs199661793
NM_022089.4(ATP13A2):c.746C>T (p.Ala249Val)
NM_022089.4(ATP13A2):c.769T>C (p.Tyr257His)
NM_022089.4(ATP13A2):c.777C>T (p.Tyr259=) rs780133367
NM_022089.4(ATP13A2):c.811A>G (p.Ile271Val)
NM_022089.4(ATP13A2):c.813C>G (p.Ile271Met) rs1557703924
NM_022089.4(ATP13A2):c.844A>T (p.Ser282Cys) rs538497077
NM_022089.4(ATP13A2):c.878T>C (p.Met293Thr)
NM_022089.4(ATP13A2):c.881G>A (p.Arg294Gln) rs56367069
NM_022089.4(ATP13A2):c.943G>A (p.Gly315Arg) rs150519745
NM_022089.4(ATP13A2):c.951C>T (p.Cys317=) rs148391179

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