ClinVar Miner

List of variants in gene ATP1A3 studied for alternating hemiplegia of childhood

Included ClinVar conditions (8):
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Gene type:
ClinVar version:
Total variants: 95
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HGVS dbSNP
NC_000019.10:g.41970476A>T
NM_152296.4(ATP1A3):c.-186G>A rs886054478
NM_152296.5(ATP1A3):c.*106T>C rs180885057
NM_152296.5(ATP1A3):c.*236T>C rs199854166
NM_152296.5(ATP1A3):c.*280T>A rs886054472
NM_152296.5(ATP1A3):c.*298C>T rs781980860
NM_152296.5(ATP1A3):c.*315G>A rs571857150
NM_152296.5(ATP1A3):c.*39C>G rs919390
NM_152296.5(ATP1A3):c.-130_-127GACG[3] rs879996553
NM_152296.5(ATP1A3):c.-148T>G rs769525784
NM_152296.5(ATP1A3):c.-64A>G rs373531937
NM_152296.5(ATP1A3):c.1003A>C (p.Thr335Pro) rs606231431
NM_152296.5(ATP1A3):c.1004C>A (p.Thr335Lys) rs1131691940
NM_152296.5(ATP1A3):c.1011C>T (p.Thr337=) rs782312004
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=) rs1353417724
NM_152296.5(ATP1A3):c.1192+6C>T rs367771319
NM_152296.5(ATP1A3):c.1192+7G>A rs374826826
NM_152296.5(ATP1A3):c.1281G>A (p.Gln427=) rs116979196
NM_152296.5(ATP1A3):c.1303-15C>A rs782749835
NM_152296.5(ATP1A3):c.1323G>A (p.Ala441=) rs34578730
NM_152296.5(ATP1A3):c.147T>C (p.Cys49=) rs376960579
NM_152296.5(ATP1A3):c.1500C>T (p.Ala500=) rs146606627
NM_152296.5(ATP1A3):c.1527C>T (p.Ser509=) rs199625170
NM_152296.5(ATP1A3):c.153+7C>T rs782082118
NM_152296.5(ATP1A3):c.154-5C>G rs191645384
NM_152296.5(ATP1A3):c.15A>G (p.Lys5=) rs886054476
NM_152296.5(ATP1A3):c.1695C>T (p.Asp565=) rs375255226
NM_152296.5(ATP1A3):c.1714A>G (p.Asn572Asp) rs782415633
NM_152296.5(ATP1A3):c.1719C>A (p.Leu573=) rs886054474
NM_152296.5(ATP1A3):c.1806+14T>C rs377372631
NM_152296.5(ATP1A3):c.1905C>T (p.Ala635=) rs781822752
NM_152296.5(ATP1A3):c.1924G>A (p.Val642Ile) rs201391210
NM_152296.5(ATP1A3):c.1943+12A>T rs201197776
NM_152296.5(ATP1A3):c.207A>T (p.Ala69=) rs200616931
NM_152296.5(ATP1A3):c.2139C>G (p.Pro713=) rs141362710
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.2267G>A (p.Arg756His) rs606231435
NM_152296.5(ATP1A3):c.2270T>C (p.Leu757Pro) rs606231436
NM_152296.5(ATP1A3):c.2307C>T (p.Thr769=) rs886054473
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.2319T>C (p.Asn773=) rs61733017
NM_152296.5(ATP1A3):c.2334G>A (p.Thr778=) rs145374789
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.2419-7C>T rs187436315
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.2431T>C (p.Ser811Pro) rs387907282
NM_152296.5(ATP1A3):c.2443G>A (p.Glu815Lys) rs387907281
NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys) rs587777771
NM_152296.5(ATP1A3):c.2487G>A (p.Pro829=) rs45606534
NM_152296.5(ATP1A3):c.2512_2516delinsTC (p.Arg838_Leu839delinsSer) rs1057516032
NM_152296.5(ATP1A3):c.2542+1G>A rs606231441
NM_152296.5(ATP1A3):c.2600G>A (p.Gly867Asp) rs606231442
NM_152296.5(ATP1A3):c.2610C>T (p.Pro870=) rs35272495
NM_152296.5(ATP1A3):c.2688+11C>A rs782430886
NM_152296.5(ATP1A3):c.270C>T (p.Phe90=) rs782539594
NM_152296.5(ATP1A3):c.2752_2754GTC[1] (p.Val919del) rs606231443
NM_152296.5(ATP1A3):c.2767G>A (p.Asp923Asn) rs267606670
NM_152296.5(ATP1A3):c.2767G>T (p.Asp923Tyr) rs267606670
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.2838C>T (p.Phe946=) rs141421692
NM_152296.5(ATP1A3):c.2839G>A (p.Gly947Arg) rs398122887
NM_152296.5(ATP1A3):c.2839G>C (p.Gly947Arg) rs398122887
NM_152296.5(ATP1A3):c.2839G>T (p.Gly947Trp)
NM_152296.5(ATP1A3):c.2864C>A (p.Ala955Asp) rs606231446
NM_152296.5(ATP1A3):c.288C>T (p.Ile96=) rs142806181
NM_152296.5(ATP1A3):c.2974G>T (p.Asp992Tyr) rs606231447
NM_152296.5(ATP1A3):c.357C>T (p.Asn119=) rs143547136
NM_152296.5(ATP1A3):c.363C>T (p.Tyr121=) rs373180830
NM_152296.5(ATP1A3):c.410C>A (p.Ser137Tyr) rs542652468
NM_152296.5(ATP1A3):c.410C>T (p.Ser137Phe) rs542652468
NM_152296.5(ATP1A3):c.419A>T (p.Gln140Leu) rs606231427
NM_152296.5(ATP1A3):c.6+3A>G rs369853936
NM_152296.5(ATP1A3):c.607-3C>T rs886054475
NM_152296.5(ATP1A3):c.607-7C>A rs782819736
NM_152296.5(ATP1A3):c.666T>G (p.Thr222=) rs2217342
NM_152296.5(ATP1A3):c.821T>A (p.Ile274Asn) rs80356532
NM_152296.5(ATP1A3):c.909C>T (p.Leu303=) rs782266448
NM_152296.5(ATP1A3):c.965T>A (p.Val322Asp) rs606231428
NM_152296.5(ATP1A3):c.994-3C>G rs377256877
NM_152296.5(ATP1A3):c.998G>T (p.Cys333Phe) rs606231430

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