ClinVar Miner

List of variants studied for alternating hemiplegia of childhood by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 136
Download table as spreadsheet
HGVS dbSNP
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.1119G>A (p.Ser373=) rs1063125
NM_000702.3(ATP1A2):c.111G>A (p.Val37=) rs886045414
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.1704C>T (p.Phe568=) rs17846714
NM_000702.3(ATP1A2):c.1821C>T (p.Gly607=) rs771085157
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.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.2751G>A (p.Thr917=) rs146839867
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_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.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.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.2487G>A (p.Pro829=) rs45606534
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.2838C>T (p.Phe946=) rs141421692
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.909C>T (p.Leu303=) rs782266448
NM_152296.4(ATP1A3):c.994-3C>G rs377256877
NM_152296.5(ATP1A3):c.154-5C>G rs191645384

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