ClinVar Miner

List of variants in gene ATP1A3 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 228
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HGVS dbSNP gnomAD frequency
NM_152296.5(ATP1A3):c.666T>G (p.Thr222=) rs2217342 0.93139
NM_152296.5(ATP1A3):c.2264-170C>T rs10425063 0.73405
NM_152296.5(ATP1A3):c.*39C>G rs919390 0.69962
NM_152296.5(ATP1A3):c.2542+137T>A rs12975677 0.69748
NM_152296.5(ATP1A3):c.2820-68G>A rs4306638 0.02530
NM_152296.5(ATP1A3):c.2689-217C>A rs73051437 0.02391
NM_152296.5(ATP1A3):c.1437+76C>G rs75979328 0.02292
NM_152296.5(ATP1A3):c.6+183C>T rs114694347 0.02249
NM_152296.5(ATP1A3):c.994-295C>T rs116420327 0.02089
NM_152296.5(ATP1A3):c.*127A>C rs782239785 0.01887
NM_152296.5(ATP1A3):c.2819+164T>C rs145937694 0.01757
NM_152296.5(ATP1A3):c.2688+189T>C rs114023723 0.01416
NM_152296.5(ATP1A3):c.2688+35G>A rs79365977 0.01409
NM_152296.5(ATP1A3):c.*106T>C rs180885057 0.01288
NM_152296.5(ATP1A3):c.2319T>C (p.Asn773=) rs61733017 0.01238
NM_152296.5(ATP1A3):c.2922-58G>A rs115062483 0.01171
NM_152296.5(ATP1A3):c.2610C>T (p.Pro870=) rs35272495 0.00802
NM_152296.5(ATP1A3):c.2487G>A (p.Pro829=) rs45606534 0.00759
NM_152296.5(ATP1A3):c.358-206A>T rs117516508 0.00710
NM_152296.5(ATP1A3):c.1437+212G>A rs148845143 0.00483
NM_152296.5(ATP1A3):c.6+351C>G rs112446548 0.00394
NM_152296.5(ATP1A3):c.2819+20G>A rs148592392 0.00279
NM_152296.5(ATP1A3):c.2922-33C>T rs137887337 0.00247
NM_152296.5(ATP1A3):c.2334G>A (p.Thr778=) rs145374789 0.00243
NM_152296.5(ATP1A3):c.2921+11C>T rs190570469 0.00230
NM_152296.5(ATP1A3):c.*296C>T rs149277536 0.00228
NM_152296.5(ATP1A3):c.1944-20G>T rs200665663 0.00216
NM_152296.5(ATP1A3):c.154-5C>G rs191645384 0.00188
NM_152296.5(ATP1A3):c.2976C>T (p.Asp992=) rs146199765 0.00177
NM_152296.5(ATP1A3):c.1943+12A>T rs201197776 0.00146
NM_152296.5(ATP1A3):c.816G>A (p.Thr272=) rs149898088 0.00140
NM_152296.5(ATP1A3):c.357C>T (p.Asn119=) rs143547136 0.00108
NM_152296.5(ATP1A3):c.7-64T>C rs371478724 0.00090
NM_152296.5(ATP1A3):c.1260C>T (p.Arg420=) rs113909283 0.00080
NM_152296.5(ATP1A3):c.993+51C>T rs113311604 0.00079
NM_152296.5(ATP1A3):c.1438-36G>A rs199810814 0.00076
NM_152296.5(ATP1A3):c.*315G>A rs571857150 0.00073
NM_152296.5(ATP1A3):c.192G>A (p.Arg64=) rs146053862 0.00061
NM_152296.5(ATP1A3):c.2653G>A (p.Val885Ile) rs149600313 0.00058
NM_152296.5(ATP1A3):c.2264-29C>T rs200137979 0.00055
NM_152296.5(ATP1A3):c.1387C>T (p.Arg463Cys) rs150785666 0.00050
NM_152296.5(ATP1A3):c.994-3C>G rs377256877 0.00046
NM_152296.5(ATP1A3):c.725-52T>A rs374815666 0.00041
NM_152296.5(ATP1A3):c.3013+134C>T rs560065605 0.00036
NM_152296.5(ATP1A3):c.1503C>T (p.Pro501=) rs143904999 0.00027
NM_152296.5(ATP1A3):c.94-21C>T rs139990019 0.00027
NM_152296.5(ATP1A3):c.1193-4C>G rs200111818 0.00023
NM_152296.5(ATP1A3):c.*72A>G rs186061886 0.00022
NM_152296.5(ATP1A3):c.1695C>T (p.Asp565=) rs375255226 0.00021
NM_152296.5(ATP1A3):c.756C>T (p.Gly252=) rs150070299 0.00021
NM_152296.5(ATP1A3):c.2419-26C>T rs189151960 0.00018
NM_152296.5(ATP1A3):c.2856G>A (p.Thr952=) rs148292376 0.00017
NM_152296.5(ATP1A3):c.2419-7C>T rs187436315 0.00016
NM_152296.5(ATP1A3):c.2263+43G>A rs782672374 0.00014
NM_152296.5(ATP1A3):c.1500C>T (p.Ala500=) rs146606627 0.00013
NM_152296.5(ATP1A3):c.2493G>A (p.Thr831=) rs374157034 0.00013
NM_152296.5(ATP1A3):c.147T>C (p.Cys49=) rs376960579 0.00011
NM_152296.5(ATP1A3):c.2226C>T (p.Asp742=) rs146600566 0.00011
NM_152296.5(ATP1A3):c.288C>T (p.Ile96=) rs142806181 0.00011
NM_152296.5(ATP1A3):c.2616C>A (p.Asn872Lys) rs782057287 0.00010
NM_152296.5(ATP1A3):c.93+5G>A rs372694213 0.00010
NM_152296.5(ATP1A3):c.1131A>G (p.Thr377=) rs143242360 0.00009
NM_152296.5(ATP1A3):c.1776G>A (p.Ala592=) rs2288507 0.00009
NM_152296.5(ATP1A3):c.1968C>T (p.His656=) rs142297106 0.00009
NM_152296.5(ATP1A3):c.1086C>T (p.Thr362=) rs186453162 0.00007
NM_152296.5(ATP1A3):c.1281G>A (p.Gln427=) rs116979196 0.00007
NM_152296.5(ATP1A3):c.191G>A (p.Arg64Gln) rs201573515 0.00006
NM_152296.5(ATP1A3):c.753G>A (p.Thr251=) rs782459932 0.00006
NM_152296.5(ATP1A3):c.858C>T (p.Thr286=) rs368998149 0.00005
NM_152296.5(ATP1A3):c.1017G>A (p.Lys339=) rs140106872 0.00004
NM_152296.5(ATP1A3):c.1134C>T (p.Val378=) rs180710845 0.00004
NM_152296.5(ATP1A3):c.1438-10C>T rs200271372 0.00004
NM_152296.5(ATP1A3):c.1527C>T (p.Ser509=) rs199625170 0.00004
NM_152296.5(ATP1A3):c.243G>A (p.Lys81=) rs782433549 0.00004
NM_152296.5(ATP1A3):c.2885C>A (p.Pro962His) rs145179304 0.00004
NM_152296.5(ATP1A3):c.472-5C>G rs372041397 0.00004
NM_152296.5(ATP1A3):c.2419-6G>A rs180749411 0.00003
NM_152296.5(ATP1A3):c.994-9G>A rs201175414 0.00003
NM_152296.5(ATP1A3):c.1192+3G>A rs374542368 0.00002
NM_152296.5(ATP1A3):c.156T>C (p.Gly52=) rs1213410717 0.00002
NM_152296.5(ATP1A3):c.207A>T (p.Ala69=) rs200616931 0.00002
NM_152296.5(ATP1A3):c.2676C>T (p.Tyr892=) rs782625641 0.00002
NM_152296.5(ATP1A3):c.2689-11C>T rs782509039 0.00002
NM_152296.5(ATP1A3):c.2896G>A (p.Val966Met) rs782665893 0.00002
NM_152296.5(ATP1A3):c.741G>C (p.Val247=) rs767234141 0.00002
NM_152296.5(ATP1A3):c.904A>G (p.Ile302Val) rs782326264 0.00002
NM_152296.5(ATP1A3):c.*299G>A rs546192339 0.00001
NM_152296.5(ATP1A3):c.1004C>T (p.Thr335Met) rs1131691940 0.00001
NM_152296.5(ATP1A3):c.1027C>T (p.Arg343Trp) rs782423325 0.00001
NM_152296.5(ATP1A3):c.1312G>A (p.Ala438Thr) rs782711218 0.00001
NM_152296.5(ATP1A3):c.1438C>G (p.Leu480Val) rs1555862370 0.00001
NM_152296.5(ATP1A3):c.1519C>T (p.Arg507Cys) rs749776123 0.00001
NM_152296.5(ATP1A3):c.1696G>A (p.Val566Met) rs1408417003 0.00001
NM_152296.5(ATP1A3):c.1930C>G (p.Gln644Glu) rs1555861946 0.00001
NM_152296.5(ATP1A3):c.2523C>T (p.Ser841=) rs1236093021 0.00001
NM_152296.5(ATP1A3):c.2548A>T (p.Ile850Phe) rs1266471637 0.00001
NM_152296.5(ATP1A3):c.2748C>T (p.Ile916=) rs782390447 0.00001
NM_152296.5(ATP1A3):c.2968G>A (p.Val990Ile) rs781786336 0.00001
NM_152296.5(ATP1A3):c.363C>T (p.Tyr121=) rs373180830 0.00001
NM_152296.5(ATP1A3):c.381G>A (p.Ala127=) rs782313754 0.00001
NM_152296.5(ATP1A3):c.472-10C>T rs1318002472 0.00001
NM_152296.5(ATP1A3):c.658G>A (p.Asp220Asn) rs1396898460 0.00001
NM_152296.5(ATP1A3):c.662G>A (p.Cys221Tyr) rs782125149 0.00001
NM_152296.5(ATP1A3):c.776G>A (p.Arg259His) rs1599722721 0.00001
NM_152296.5(ATP1A3):c.*247C>T rs565195548
NM_152296.5(ATP1A3):c.1072G>C (p.Gly358Arg) rs606231432
NM_152296.5(ATP1A3):c.1103C>G (p.Thr368Arg)
NM_152296.5(ATP1A3):c.1123C>T (p.Arg375Cys) rs1057524683
NM_152296.5(ATP1A3):c.1193-1G>A
NM_152296.5(ATP1A3):c.1214C>T (p.Ser405Leu) rs368489500
NM_152296.5(ATP1A3):c.1260C>G (p.Arg420=) rs113909283
NM_152296.5(ATP1A3):c.1277G>A (p.Gly426Asp)
NM_152296.5(ATP1A3):c.1323G>A (p.Ala441=) rs34578730
NM_152296.5(ATP1A3):c.1437+322C>T rs74488471
NM_152296.5(ATP1A3):c.1445T>G (p.Ile482Ser) rs2145966201
NM_152296.5(ATP1A3):c.1517A>G (p.Asp506Gly) rs1599715969
NM_152296.5(ATP1A3):c.1670A>G (p.Lys557Arg) rs2145965091
NM_152296.5(ATP1A3):c.1688G>A (p.Cys563Tyr) rs2145965055
NM_152296.5(ATP1A3):c.1715A>G (p.Asn572Ser) rs2145964972
NM_152296.5(ATP1A3):c.1765G>T (p.Val589Phe) rs1131691436
NM_152296.5(ATP1A3):c.1775C>T (p.Ala592Val) rs1599715351
NM_152296.5(ATP1A3):c.1781G>C (p.Gly594Ala) rs2145964820
NM_152296.5(ATP1A3):c.1807-9T>C rs2145964616
NM_152296.5(ATP1A3):c.1807G>A (p.Val603Ile)
NM_152296.5(ATP1A3):c.1838C>T (p.Thr613Met)
NM_152296.5(ATP1A3):c.1871T>A (p.Ile624Asn) rs2145964517
NM_152296.5(ATP1A3):c.1899C>A (p.Asp633Glu) rs1131691915
NM_152296.5(ATP1A3):c.1903G>A (p.Ala635Thr)
NM_152296.5(ATP1A3):c.1943G>A (p.Arg648Gln) rs2075189226
NM_152296.5(ATP1A3):c.1972A>G (p.Thr658Ala) rs2145961659
NM_152296.5(ATP1A3):c.1978C>T (p.Leu660Phe)
NM_152296.5(ATP1A3):c.199C>T (p.Pro67Ser)
NM_152296.5(ATP1A3):c.2029G>A (p.Glu677Lys)
NM_152296.5(ATP1A3):c.2045G>A (p.Arg682His)
NM_152296.5(ATP1A3):c.2095-5_2095-4insCCCTTACCCTGCA rs782804502
NM_152296.5(ATP1A3):c.2116G>A (p.Gly706Arg) rs782175860
NM_152296.5(ATP1A3):c.2140G>A (p.Ala714Thr) rs2145959562
NM_152296.5(ATP1A3):c.2146AAG[1] (p.Lys717del) rs1064795403
NM_152296.5(ATP1A3):c.2155G>A (p.Asp719Asn)
NM_152296.5(ATP1A3):c.2183G>A (p.Gly728Asp) rs1057522446
NM_152296.5(ATP1A3):c.218C>T (p.Pro73Leu)
NM_152296.5(ATP1A3):c.2191G>A (p.Val731Ile) rs1131691813
NM_152296.5(ATP1A3):c.2194T>C (p.Ser732Pro)
NM_152296.5(ATP1A3):c.219G>T (p.Pro73=)
NM_152296.5(ATP1A3):c.2203G>A (p.Ala735Thr) rs2075158274
NM_152296.5(ATP1A3):c.2264-107_2264-106dup rs1168002399
NM_152296.5(ATP1A3):c.2264-107dup rs1168002399
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.2302T>C (p.Tyr768His)
NM_152296.5(ATP1A3):c.230C>A (p.Pro77Gln)
NM_152296.5(ATP1A3):c.2315G>A (p.Ser772Asn) rs1064795234
NM_152296.5(ATP1A3):c.2318A>G (p.Asn773Ser) rs606231437
NM_152296.5(ATP1A3):c.2324C>T (p.Pro775Leu) rs886041396
NM_152296.5(ATP1A3):c.2328G>C (p.Glu776Asp) rs1085307992
NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn)
NM_152296.5(ATP1A3):c.2428A>G (p.Ile810Val)
NM_152296.5(ATP1A3):c.2438C>T (p.Ala813Val)
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.2461A>C (p.Ile821Leu) rs2145947547
NM_152296.5(ATP1A3):c.2486C>T (p.Pro829Leu) rs2145947520
NM_152296.5(ATP1A3):c.2491A>T (p.Thr831Ser)
NM_152296.5(ATP1A3):c.250C>T (p.Arg84Trp) rs1555866028
NM_152296.5(ATP1A3):c.2543-6T>A rs1599705282
NM_152296.5(ATP1A3):c.2552A>G (p.Gln851Arg) rs2145946065
NM_152296.5(ATP1A3):c.2555C>G (p.Ala852Gly) rs2075080038
NM_152296.5(ATP1A3):c.2560G>A (p.Gly854Ser) rs2075079968
NM_152296.5(ATP1A3):c.2567TCT[1] (p.Phe857del) rs2145945980
NM_152296.5(ATP1A3):c.2580T>G (p.Phe860Leu)
NM_152296.5(ATP1A3):c.2588T>C (p.Leu863Pro) rs2145945970
NM_152296.5(ATP1A3):c.2600G>A (p.Gly867Asp) rs606231442
NM_152296.5(ATP1A3):c.2620G>A (p.Val874Met)
NM_152296.5(ATP1A3):c.265G>A (p.Gly89Ser) rs1057522886
NM_152296.5(ATP1A3):c.266G>C (p.Gly89Ala) rs1599725621
NM_152296.5(ATP1A3):c.2677G>A (p.Gly893Arg) rs1568853466
NM_152296.5(ATP1A3):c.2689-3C>A rs1057524066
NM_152296.5(ATP1A3):c.2747T>G (p.Ile916Ser) rs1555859165
NM_152296.5(ATP1A3):c.2748C>G (p.Ile916Met) rs782390447
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.2794A>T (p.Asn932Tyr) rs2145944554
NM_152296.5(ATP1A3):c.2801T>C (p.Val934Ala) rs2075071034
NM_152296.5(ATP1A3):c.2806C>T (p.Gln936Ter) rs1555859144
NM_152296.5(ATP1A3):c.2820-278_2820-275del rs10587805
NM_152296.5(ATP1A3):c.2839G>A (p.Gly947Arg) rs398122887
NM_152296.5(ATP1A3):c.2840G>A (p.Gly947Glu) rs886041431
NM_152296.5(ATP1A3):c.2921+4A>G
NM_152296.5(ATP1A3):c.2923C>G (p.Pro975Ala) rs782655656
NM_152296.5(ATP1A3):c.2924C>T (p.Pro975Leu)
NM_152296.5(ATP1A3):c.295A>G (p.Ile99Val) rs958239123
NM_152296.5(ATP1A3):c.2960T>C (p.Leu987Pro) rs2145941381
NM_152296.5(ATP1A3):c.2974G>A (p.Asp992Asn) rs606231447
NM_152296.5(ATP1A3):c.2975A>G (p.Asp992Gly) rs2145941332
NM_152296.5(ATP1A3):c.2977G>A (p.Glu993Lys)
NM_152296.5(ATP1A3):c.2983C>T (p.Arg995Cys)
NM_152296.5(ATP1A3):c.2989C>G (p.Leu997Val)
NM_152296.5(ATP1A3):c.2996T>C (p.Leu999Pro) rs2145941265
NM_152296.5(ATP1A3):c.29C>A (p.Ser10Ter)
NM_152296.5(ATP1A3):c.326C>T (p.Ala109Val) rs1568866568
NM_152296.5(ATP1A3):c.385G>A (p.Val129Met) rs1555865401
NM_152296.5(ATP1A3):c.409T>A (p.Ser137Thr)
NM_152296.5(ATP1A3):c.410C>T (p.Ser137Phe) rs542652468
NM_152296.5(ATP1A3):c.410_412del (p.Ser137del) rs1555865385
NM_152296.5(ATP1A3):c.449C>A (p.Ser150Tyr)
NM_152296.5(ATP1A3):c.487C>T (p.Arg163Trp)
NM_152296.5(ATP1A3):c.535del (p.Asp179fs)
NM_152296.5(ATP1A3):c.580C>T (p.Arg194Trp) rs1246646193
NM_152296.5(ATP1A3):c.6+522TG[20] rs4060828
NM_152296.5(ATP1A3):c.6+522TG[21] rs4060828
NM_152296.5(ATP1A3):c.6+522TG[22] rs4060828
NM_152296.5(ATP1A3):c.6+522TG[23] rs4060828
NM_152296.5(ATP1A3):c.6+522TG[25] rs4060828
NM_152296.5(ATP1A3):c.603C>T (p.Cys201=)
NM_152296.5(ATP1A3):c.652T>A (p.Ser218Thr)
NM_152296.5(ATP1A3):c.659A>C (p.Asp220Ala) rs2145978691
NM_152296.5(ATP1A3):c.7-5C>G rs782717626
NM_152296.5(ATP1A3):c.719T>C (p.Val240Ala) rs2075276205
NM_152296.5(ATP1A3):c.725-32C>A rs201351299
NM_152296.5(ATP1A3):c.725G>T (p.Gly242Val)
NM_152296.5(ATP1A3):c.757G>A (p.Asp253Asn) rs1057523788
NM_152296.5(ATP1A3):c.76AAG[1] (p.Lys27del)
NM_152296.5(ATP1A3):c.909C>G (p.Leu303=) rs782266448
NM_152296.5(ATP1A3):c.967C>T (p.Pro323Ser) rs864309572
NM_152296.5(ATP1A3):c.968C>T (p.Pro323Leu) rs1085307933
NM_152296.5(ATP1A3):c.971A>G (p.Glu324Gly) rs797044897
NM_152296.5(ATP1A3):c.974G>A (p.Gly325Asp) rs863224847
NM_152296.5(ATP1A3):c.977T>G (p.Leu326Arg) rs1131691307

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