ClinVar Miner

List of variants studied for alternating hemiplegia of childhood

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 265
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HGVS dbSNP
NC_000023.11:g.(28431993_28753427)_(31819902_32595971)del
NC_000023.11:g.(29137216_29955053)_(30309388_30559662)del
NC_000023.11:g.(29958358_30064519)_(31178619_31444714)del
NC_000023.11:g.(?_30304579)_(30309363_?)del
NC_000023.11:g.30307936_30311263del3328
NM_000475.4(NR0B1):c.1094T>C (p.Leu365Pro) rs386134262
NM_000475.4(NR0B1):c.109C>T (p.Gln37Ter) rs104894908
NM_000475.4(NR0B1):c.1107G>A (p.Trp369Ter) rs104894886
NM_000475.4(NR0B1):c.1123_1124insT (p.Thr375Ilefs) rs1555972957
NM_000475.4(NR0B1):c.1138T>G (p.Tyr380Asp) rs104894900
NM_000475.4(NR0B1):c.1141C>T (p.Leu381Phe) rs386134263
NM_000475.4(NR0B1):c.1142T>A (p.Leu381His) rs104894899
NM_000475.4(NR0B1):c.1142T>C (p.Leu381Pro) rs104894899
NM_000475.4(NR0B1):c.1146G>T (p.Lys382Asn) rs104894896
NM_000475.4(NR0B1):c.1168+1_1168+20del rs1555972943
NM_000475.4(NR0B1):c.1169-112_*17del374insTG rs1555972632
NM_000475.4(NR0B1):c.1169-1G>A rs1555972666
NM_000475.4(NR0B1):c.116G>A (p.Trp39Ter)
NM_000475.4(NR0B1):c.1183C>T (p.Gln395Ter) rs104894894
NM_000475.4(NR0B1):c.1197C>A (p.Tyr399Ter) rs104894906
NM_000475.4(NR0B1):c.1231_1234delCTCA (p.Leu411Valfs)
NM_000475.4(NR0B1):c.1234_1235delAG (p.Ser412Terfs) rs1555972655
NM_000475.4(NR0B1):c.1267delC (p.His423Metfs)
NM_000475.4(NR0B1):c.1274G>T (p.Arg425Ile) rs387907373
NM_000475.4(NR0B1):c.1316T>G (p.Ile439Ser) rs104894897
NM_000475.4(NR0B1):c.1319A>T (p.Asn440Ile) rs28935481
NM_000475.4(NR0B1):c.1340T>C (p.Leu447Pro) rs1555972641
NM_000475.4(NR0B1):c.1364_1365delCA (p.Thr455Serfs) rs1555972640
NM_000475.4(NR0B1):c.273C>A (p.Tyr91Ter) rs104894892
NM_000475.4(NR0B1):c.277delG (p.Ala93Hisfs) rs1555973189
NM_000475.4(NR0B1):c.315G>A (p.Trp105Ter) rs132630327
NM_000475.4(NR0B1):c.327C>A (p.Cys109Ter) rs1555973172
NM_000475.4(NR0B1):c.376G>A (p.Val126Met) rs193205940
NM_000475.4(NR0B1):c.501delA (p.Gly169Alafs)
NM_000475.4(NR0B1):c.513G>A (p.Trp171Ter) rs104894891
NM_000475.4(NR0B1):c.515G>A (p.Trp172Ter) rs1555973132
NM_000475.4(NR0B1):c.516G>A (p.Trp172Ter) rs1555973131
NM_000475.4(NR0B1):c.528C>G (p.Tyr176Ter)
NM_000475.4(NR0B1):c.543delA (p.Gly183Valfs) rs1555973120
NM_000475.4(NR0B1):c.545_546insCCCA (p.Gly183Profs) rs1555973119
NM_000475.4(NR0B1):c.548dup (p.Lys184Terfs) rs1555973117
NM_000475.4(NR0B1):c.551_552delAA (p.Lys184Argfs) rs1555973115
NM_000475.4(NR0B1):c.552delA (p.Glu185Argfs) rs1555973115
NM_000475.4(NR0B1):c.591C>A (p.Tyr197Ter) rs104894898
NM_000475.4(NR0B1):c.638_654del17insCATC (p.Leu213Profs) rs1555973091
NM_000475.4(NR0B1):c.652dup (p.Thr218Asnfs) rs1555973092
NM_000475.4(NR0B1):c.704G>A (p.Trp235Ter) rs104894889
NM_000475.4(NR0B1):c.708G>A (p.Trp236Ter) rs1131691564
NM_000475.4(NR0B1):c.754delC (p.Gln252Argfs) rs1555973063
NM_000475.4(NR0B1):c.765C>A (p.Cys255Ter) rs1311271225
NM_000475.4(NR0B1):c.773C>A (p.Ala258Asp) rs1555973058
NM_000475.4(NR0B1):c.788T>A (p.Leu263Ter) rs104894887
NM_000475.4(NR0B1):c.800G>C (p.Arg267Pro) rs104894888
NM_000475.4(NR0B1):c.806T>A (p.Val269Asp) rs1555973045
NM_000475.4(NR0B1):c.813C>G (p.Tyr271Ter) rs104894895
NM_000475.4(NR0B1):c.822C>A (p.Cys274Ter) rs753734546
NM_000475.4(NR0B1):c.844C>T (p.Gln282Ter) rs1555973031
NM_000475.4(NR0B1):c.847C>T (p.Gln283Ter) rs104894890
NM_000475.4(NR0B1):c.848A>C (p.Gln283Pro) rs1060499835
NM_000475.4(NR0B1):c.871T>C (p.Trp291Arg) rs1555973021
NM_000475.4(NR0B1):c.872G>C (p.Trp291Ser) rs1489209061
NM_000475.4(NR0B1):c.873G>C (p.Trp291Cys) rs28935482
NM_000475.4(NR0B1):c.890T>C (p.Leu297Pro) rs104894907
NM_000475.4(NR0B1):c.901C>T (p.Gln301Ter) rs1555973010
NM_000475.4(NR0B1):c.919G>T (p.Glu307Ter)
NM_000475.4(NR0B1):c.952C>T (p.Gln318Ter) rs1555972994
NM_000475.4:c.857_862del
NM_000702.3(ATP1A2):c.*1000T>A rs116194737
NM_000702.3(ATP1A2):c.*1000T>G rs116194737
NM_000702.3(ATP1A2):c.*1026A>G rs2070704
NM_000702.3(ATP1A2):c.*1035A>G rs886045425
NM_000702.3(ATP1A2):c.*1095T>A rs56199408
NM_000702.3(ATP1A2):c.*1207G>T rs566535472
NM_000702.3(ATP1A2):c.*120A>G rs886045419
NM_000702.3(ATP1A2):c.*1211C>A rs62621216
NM_000702.3(ATP1A2):c.*1212G>C rs558677583
NM_000702.3(ATP1A2):c.*1241delT rs886045426
NM_000702.3(ATP1A2):c.*1245A>C rs886045427
NM_000702.3(ATP1A2):c.*1280G>A rs4656884
NM_000702.3(ATP1A2):c.*1284C>A rs78507938
NM_000702.3(ATP1A2):c.*1284C>T rs78507938
NM_000702.3(ATP1A2):c.*1290T>C rs886045428
NM_000702.3(ATP1A2):c.*1333dupA rs538086614
NM_000702.3(ATP1A2):c.*1355C>T rs190096000
NM_000702.3(ATP1A2):c.*142A>G rs117680524
NM_000702.3(ATP1A2):c.*143G>T rs886045420
NM_000702.3(ATP1A2):c.*147C>T rs574763789
NM_000702.3(ATP1A2):c.*1482delC rs886045430
NM_000702.3(ATP1A2):c.*1496delA rs138196662
NM_000702.3(ATP1A2):c.*1547G>T rs55845795
NM_000702.3(ATP1A2):c.*1547_*1548delGCinsTT rs886045432
NM_000702.3(ATP1A2):c.*1548C>T rs56003400
NM_000702.3(ATP1A2):c.*1629T>C rs1046995
NM_000702.3(ATP1A2):c.*1630C>T rs886045433
NM_000702.3(ATP1A2):c.*1643_*1646delTCTA rs533473532
NM_000702.3(ATP1A2):c.*175C>T rs886045421
NM_000702.3(ATP1A2):c.*1780G>A rs74123255
NM_000702.3(ATP1A2):c.*1781C>T rs116744472
NM_000702.3(ATP1A2):c.*1815G>C rs886045435
NM_000702.3(ATP1A2):c.*18C>T rs886045418
NM_000702.3(ATP1A2):c.*1953T>C rs767882535
NM_000702.3(ATP1A2):c.*2065G>A rs886045436
NM_000702.3(ATP1A2):c.*2070C>T rs886045437
NM_000702.3(ATP1A2):c.*2147T>G rs886045438
NM_000702.3(ATP1A2):c.*2259T>A rs3747625
NM_000702.3(ATP1A2):c.*253C>T rs78930771
NM_000702.3(ATP1A2):c.*25T>C rs768950032
NM_000702.3(ATP1A2):c.*286G>C rs542623068
NM_000702.3(ATP1A2):c.*383C>T rs528397631
NM_000702.3(ATP1A2):c.*546G>A rs62621782
NM_000702.3(ATP1A2):c.*589G>C rs2070702
NM_000702.3(ATP1A2):c.*621A>G rs12077973
NM_000702.3(ATP1A2):c.*648A>G rs886045422
NM_000702.3(ATP1A2):c.*682T>C rs60949592
NM_000702.3(ATP1A2):c.*686G>A rs55843060
NM_000702.3(ATP1A2):c.*703G>A rs57902482
NM_000702.3(ATP1A2):c.*72G>A rs2070701
NM_000702.3(ATP1A2):c.*746C>T rs62620182
NM_000702.3(ATP1A2):c.*748C>T rs2070703
NM_000702.3(ATP1A2):c.*870G>A rs886045423
NM_000702.3(ATP1A2):c.*910A>G rs886045424
NM_000702.3(ATP1A2):c.*932T>C rs183455719
NM_000702.3(ATP1A2):c.-48C>G rs41265761
NM_000702.3(ATP1A2):c.-70G>A rs569640199
NM_000702.3(ATP1A2):c.1092G>A (p.Thr364=) rs55741021
NM_000702.3(ATP1A2):c.1097G>A (p.Gly366Asp)
NM_000702.3(ATP1A2):c.1119G>A (p.Ser373=) rs1063125
NM_000702.3(ATP1A2):c.111G>A (p.Val37=) rs886045414
NM_000702.3(ATP1A2):c.1133C>A (p.Thr378Asn) rs28934002
NM_000702.3(ATP1A2):c.1282C>T (p.Arg428Cys) rs779985796
NM_000702.3(ATP1A2):c.13-11_13-8delTCCT rs373796693
NM_000702.3(ATP1A2):c.1474G>A (p.Glu492Lys) rs142348542
NM_000702.3(ATP1A2):c.1572G>A (p.Glu524=) rs775192056
NM_000702.3(ATP1A2):c.1652-11C>G rs17846713
NM_000702.3(ATP1A2):c.1652-7C>A rs200102433
NM_000702.3(ATP1A2):c.1666A>T (p.Asn556Tyr) rs141467566
NM_000702.3(ATP1A2):c.1674A>G (p.Pro558=) rs769798147
NM_000702.3(ATP1A2):c.1690C>T (p.Arg564Trp) rs762330744
NM_000702.3(ATP1A2):c.1704C>T (p.Phe568=) rs17846714
NM_000702.3(ATP1A2):c.1821C>T (p.Gly607=) rs771085157
NM_000702.3(ATP1A2):c.192G>T (p.Gln64His) rs796052282
NM_000702.3(ATP1A2):c.194G>T (p.Arg65Leu) rs187733403
NM_000702.3(ATP1A2):c.1980C>T (p.Cys660=) rs61734529
NM_000702.3(ATP1A2):c.2062G>T (p.Ala688Ser)
NM_000702.3(ATP1A2):c.2130C>T (p.Ala710=) rs374749325
NM_000702.3(ATP1A2):c.2259C>T (p.Ala753=) rs17846715
NM_000702.3(ATP1A2):c.246C>G (p.Pro82=) rs537472446
NM_000702.3(ATP1A2):c.2563+4C>T rs3747626
NM_000702.3(ATP1A2):c.25T>A (p.Tyr9Asn) rs55858252
NM_000702.3(ATP1A2):c.2675T>C (p.Met892Thr) rs794727222
NM_000702.3(ATP1A2):c.2680G>T (p.Asp894Tyr) rs1553245907
NM_000702.3(ATP1A2):c.2751G>A (p.Thr917=) rs146839867
NM_000702.3(ATP1A2):c.2770G>A (p.Val924Met) rs373276446
NM_000702.3(ATP1A2):c.285C>T (p.Phe95=) rs886045415
NM_000702.3(ATP1A2):c.2877G>A (p.Thr959=) rs200127278
NM_000702.3(ATP1A2):c.2943-15C>T rs111510835
NM_000702.3(ATP1A2):c.2961C>T (p.Cys987=) rs74123254
NM_000702.3(ATP1A2):c.3034+14C>T rs41288127
NM_000702.3(ATP1A2):c.339C>T (p.Tyr113=) rs148929192
NM_000702.3(ATP1A2):c.360G>A (p.Glu120=) rs369061211
NM_000702.3(ATP1A2):c.528G>T (p.Met176Ile) rs867416764
NM_000702.3(ATP1A2):c.627T>C (p.Cys209=) rs139229302
NM_000702.3(ATP1A2):c.631-6C>T rs886045416
NM_000702.3(ATP1A2):c.754G>A (p.Ala252Thr) rs886045417
NM_000702.3(ATP1A2):c.889G>A (p.Ala297Thr) rs181618883
NM_001256214.1(ATP1A3):c.449C>T (p.Ser150Phe) rs542652468
NM_152296.3(ATP1A3):c.2767G>A (p.Asp923Asn) rs267606670
NM_152296.4(ATP1A3):c.*106T>C rs180885057
NM_152296.4(ATP1A3):c.*236T>C rs199854166
NM_152296.4(ATP1A3):c.*280T>A rs886054472
NM_152296.4(ATP1A3):c.*298C>T rs781980860
NM_152296.4(ATP1A3):c.*315G>A rs571857150
NM_152296.4(ATP1A3):c.*39C>G rs919390
NM_152296.4(ATP1A3):c.-118_-115delGACG rs879996553
NM_152296.4(ATP1A3):c.-148T>G rs769525784
NM_152296.4(ATP1A3):c.-186G>A rs886054478
NM_152296.4(ATP1A3):c.-64A>G rs373531937
NM_152296.4(ATP1A3):c.1004C>A (p.Thr335Lys) rs1131691940
NM_152296.4(ATP1A3):c.1011C>T (p.Thr337=) rs782312004
NM_152296.4(ATP1A3):c.1192+6C>T rs367771319
NM_152296.4(ATP1A3):c.1281G>A (p.Gln427=) rs116979196
NM_152296.4(ATP1A3):c.1303-15C>A rs782749835
NM_152296.4(ATP1A3):c.1323G>A (p.Ala441=) rs34578730
NM_152296.4(ATP1A3):c.147T>C (p.Cys49=) rs376960579
NM_152296.4(ATP1A3):c.1500C>T (p.Ala500=) rs146606627
NM_152296.4(ATP1A3):c.1527C>T (p.Ser509=) rs199625170
NM_152296.4(ATP1A3):c.153+7C>T rs782082118
NM_152296.4(ATP1A3):c.15A>G (p.Lys5=) rs886054476
NM_152296.4(ATP1A3):c.1695C>T (p.Asp565=) rs375255226
NM_152296.4(ATP1A3):c.1714A>G (p.Asn572Asp) rs782415633
NM_152296.4(ATP1A3):c.1719C>A (p.Leu573=) rs886054474
NM_152296.4(ATP1A3):c.1806+14T>C rs377372631
NM_152296.4(ATP1A3):c.1905C>T (p.Ala635=) rs781822752
NM_152296.4(ATP1A3):c.1924G>A (p.Val642Ile) rs201391210
NM_152296.4(ATP1A3):c.1943+12A>T rs201197776
NM_152296.4(ATP1A3):c.207A>T (p.Ala69=) rs200616931
NM_152296.4(ATP1A3):c.2139C>G (p.Pro713=) rs141362710
NM_152296.4(ATP1A3):c.2267G>A (p.Arg756His) rs606231435
NM_152296.4(ATP1A3):c.2307C>T (p.Thr769=) rs886054473
NM_152296.4(ATP1A3):c.2319T>C (p.Asn773=) rs61733017
NM_152296.4(ATP1A3):c.2334G>A (p.Thr778=) rs145374789
NM_152296.4(ATP1A3):c.2419-7C>T rs187436315
NM_152296.4(ATP1A3):c.2431T>C (p.Ser811Pro) rs387907282
NM_152296.4(ATP1A3):c.2443G>A (p.Glu815Lys) rs387907281
NM_152296.4(ATP1A3):c.2452G>A (p.Glu818Lys) rs587777771
NM_152296.4(ATP1A3):c.2487G>A (p.Pro829=) rs45606534
NM_152296.4(ATP1A3):c.2542+1G>A rs606231441
NM_152296.4(ATP1A3):c.2610C>T (p.Pro870=) rs35272495
NM_152296.4(ATP1A3):c.2688+11C>A rs782430886
NM_152296.4(ATP1A3):c.270C>T (p.Phe90=) rs782539594
NM_152296.4(ATP1A3):c.2755_2757delGTC (p.Val919del) rs606231443
NM_152296.4(ATP1A3):c.2767G>T (p.Asp923Tyr) rs267606670
NM_152296.4(ATP1A3):c.2838C>T (p.Phe946=) rs141421692
NM_152296.4(ATP1A3):c.2839G>A (p.Gly947Arg) rs398122887
NM_152296.4(ATP1A3):c.2839G>C (p.Gly947Arg) rs398122887
NM_152296.4(ATP1A3):c.288C>T (p.Ile96=) rs142806181
NM_152296.4(ATP1A3):c.357C>T (p.Asn119=) rs143547136
NM_152296.4(ATP1A3):c.363C>T (p.Tyr121=) rs373180830
NM_152296.4(ATP1A3):c.6+3A>G rs369853936
NM_152296.4(ATP1A3):c.607-3C>T rs886054475
NM_152296.4(ATP1A3):c.607-7C>A rs782819736
NM_152296.4(ATP1A3):c.666T>G (p.Thr222=) rs2217342
NM_152296.4(ATP1A3):c.821T>A (p.Ile274Asn) rs80356532
NM_152296.4(ATP1A3):c.909C>T (p.Leu303=) rs782266448
NM_152296.4(ATP1A3):c.994-3C>G rs377256877
NM_152296.5(ATP1A3):c.1003A>C (p.Thr335Pro) rs606231431
NM_152296.5(ATP1A3):c.1072G>T (p.Gly358Cys) rs606231432
NM_152296.5(ATP1A3):c.1112T>C (p.Leu371Pro) rs606231433
NM_152296.5(ATP1A3):c.1176C>T (p.Thr392=)
NM_152296.5(ATP1A3):c.1192+7G>A
NM_152296.5(ATP1A3):c.154-5C>G rs191645384
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.2270T>C (p.Leu757Pro) rs606231436
NM_152296.5(ATP1A3):c.2312C>A (p.Thr771Asn) rs557939077
NM_152296.5(ATP1A3):c.2316C>A (p.Ser772Arg) rs534926223
NM_152296.5(ATP1A3):c.2318A>G (p.Asn773Ser) rs606231437
NM_152296.5(ATP1A3):c.2318A>T (p.Asn773Ile) rs606231437
NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn) rs80356537
NM_152296.5(ATP1A3):c.2401G>C (p.Asp801His) rs80356537
NM_152296.5(ATP1A3):c.2411C>T (p.Thr804Ile) rs606231438
NM_152296.5(ATP1A3):c.2415C>G (p.Asp805Glu) rs606231439
NM_152296.5(ATP1A3):c.2417T>G (p.Met806Arg) rs549006436
NM_152296.5(ATP1A3):c.2428A>T (p.Ile810Phe) rs606231440
NM_152296.5(ATP1A3):c.2429T>G (p.Ile810Ser) rs536681257
NM_152296.5(ATP1A3):c.2512_2516delAGACTinsTC (p.Arg838_Leu839delinsSer) rs1057516032
NM_152296.5(ATP1A3):c.2600G>A (p.Gly867Asp) rs606231442
NM_152296.5(ATP1A3):c.2780G>A (p.Cys927Tyr) rs606231444
NM_152296.5(ATP1A3):c.2780G>T (p.Cys927Phe) rs606231444
NM_152296.5(ATP1A3):c.2781C>G (p.Cys927Trp) rs606231445
NM_152296.5(ATP1A3):c.2864C>A (p.Ala955Asp) rs606231446
NM_152296.5(ATP1A3):c.2974G>T (p.Asp992Tyr) rs606231447
NM_152296.5(ATP1A3):c.410C>A (p.Ser137Tyr) rs542652468
NM_152296.5(ATP1A3):c.419A>T (p.Gln140Leu) rs606231427
NM_152296.5(ATP1A3):c.965T>A (p.Val322Asp) rs606231428
NM_152296.5(ATP1A3):c.998G>T (p.Cys333Phe) rs606231430
NR0B1, 1-BP DEL
NR0B1, 1-BP DEL, 1169C
NR0B1, 1-BP INS, 430G
NR0B1, 2-BP DEL, 1610AG, AND 1-BP INS
NR0B1, 2-BP DEL, 388AG
NR0B1, 2.2-KB DEL/27-BP INS
NR0B1, DEL

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