ClinVar Miner

List of variants in gene ATP1A2 reported by Illumina Laboratory Services, Illumina

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Gene type:
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Total variants: 131
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HGVS dbSNP gnomAD frequency
NM_000702.4(ATP1A2):c.*2259T>A rs3747625 0.21913
NM_000702.4(ATP1A2):c.*1026A>G rs2070704 0.21697
NM_000702.4(ATP1A2):c.*1095T>A rs56199408 0.21686
NM_000702.4(ATP1A2):c.*1629T>C rs1046995 0.21680
NM_000702.4(ATP1A2):c.*746C>T rs62620182 0.21625
NM_000702.4(ATP1A2):c.*748C>T rs2070703 0.21623
NM_000702.4(ATP1A2):c.*589G>C rs2070702 0.20323
NM_000702.4(ATP1A2):c.1119G>A (p.Ser373=) rs1063125 0.18359
NM_000702.4(ATP1A2):c.3034+14C>T rs41288127 0.13198
NM_000702.4(ATP1A2):c.*686G>A rs55843060 0.12407
NM_000702.4(ATP1A2):c.*1548C>T rs56003400 0.10471
NM_000702.4(ATP1A2):c.*1547G>T rs55845795 0.10469
NM_000702.4(ATP1A2):c.2259C>T (p.Ala753=) rs17846715 0.09246
NM_000702.4(ATP1A2):c.*1280G>A rs4656884 0.05514
NM_000702.4(ATP1A2):c.*621A>G rs12077973 0.03640
NM_000702.4(ATP1A2):c.1704C>T (p.Phe568=) rs17846714 0.03612
NM_000702.4(ATP1A2):c.*253C>T rs78930771 0.03535
NM_000702.4(ATP1A2):c.*546G>A rs62621782 0.03531
NM_000702.4(ATP1A2):c.1652-11C>G rs17846713 0.03344
NM_000702.4(ATP1A2):c.2961C>T (p.Cys987=) rs74123254 0.02789
NM_000702.4(ATP1A2):c.*682T>C rs60949592 0.02374
NM_000702.4(ATP1A2):c.1980C>T (p.Cys660=) rs61734529 0.02220
NM_000702.4(ATP1A2):c.*1780G>A rs74123255 0.02185
NM_000702.4(ATP1A2):c.*703G>A rs57902482 0.01488
NM_000702.4(ATP1A2):c.*1284C>T rs78507938 0.01486
NM_000702.4(ATP1A2):c.*72G>A rs2070701 0.00654
NM_000702.4(ATP1A2):c.*1781C>T rs116744472 0.00585
NM_000702.4(ATP1A2):c.-48C>G rs41265761 0.00414
NM_000702.4(ATP1A2):c.2943-15C>T rs111510835 0.00350
NM_000702.4(ATP1A2):c.*932T>C rs183455719 0.00347
NM_000702.4(ATP1A2):c.*1000T>G rs116194737 0.00242
NM_000702.4(ATP1A2):c.2967C>T (p.Phe989=) rs138826759 0.00235
NM_000702.4(ATP1A2):c.25T>A (p.Tyr9Asn) rs55858252 0.00211
NM_000702.4(ATP1A2):c.2115+14C>T rs200854586 0.00168
NM_000702.4(ATP1A2):c.*1355C>T rs190096000 0.00166
NM_000702.4(ATP1A2):c.*1212G>C rs558677583 0.00126
NM_000702.4(ATP1A2):c.*1207G>T rs566535472 0.00119
NM_000702.4(ATP1A2):c.*86G>A rs368064571 0.00099
NM_000702.4(ATP1A2):c.*482A>C rs373029091 0.00097
NM_000702.4(ATP1A2):c.*2073A>G rs373523004 0.00081
NM_000702.4(ATP1A2):c.2563+4C>T rs3747626 0.00081
NM_000702.4(ATP1A2):c.340G>A (p.Gly114Ser) rs116711766 0.00071
NM_000702.4(ATP1A2):c.2751G>A (p.Thr917=) rs146839867 0.00069
NM_000702.4(ATP1A2):c.1474G>A (p.Glu492Lys) rs142348542 0.00055
NM_000702.4(ATP1A2):c.*286G>C rs542623068 0.00032
NM_000702.4(ATP1A2):c.*2223C>T rs866583777 0.00029
NM_000702.4(ATP1A2):c.*142A>G rs117680524 0.00026
NM_000702.4(ATP1A2):c.*1835C>T rs774745308 0.00026
NM_000702.4(ATP1A2):c.339C>T (p.Tyr113=) rs148929192 0.00023
NM_000702.4(ATP1A2):c.2130C>T (p.Ala710=) rs374749325 0.00021
NM_000702.4(ATP1A2):c.*1290T>C rs886045428 0.00019
NM_000702.4(ATP1A2):c.1666A>T (p.Asn556Tyr) rs141467566 0.00019
NM_000702.4(ATP1A2):c.194G>T (p.Arg65Leu) rs187733403 0.00019
NM_000702.4(ATP1A2):c.*73G>A rs368523013 0.00016
NM_000702.4(ATP1A2):c.1092G>A (p.Thr364=) rs55741021 0.00015
NM_000702.4(ATP1A2):c.*2184A>G rs796180952 0.00014
NM_000702.4(ATP1A2):c.-70G>A rs569640199 0.00011
NM_000702.4(ATP1A2):c.*120A>G rs886045419 0.00009
NM_000702.4(ATP1A2):c.*870G>A rs886045423 0.00009
NM_000702.4(ATP1A2):c.1582G>A (p.Asp528Asn) rs374501280 0.00009
NM_000702.4(ATP1A2):c.*15G>A rs187737212 0.00007
NM_000702.4(ATP1A2):c.2142C>T (p.Asp714=) rs139022921 0.00007
NM_000702.4(ATP1A2):c.*1461C>T rs971355280 0.00006
NM_000702.4(ATP1A2):c.*147C>T rs574763789 0.00006
NM_000702.4(ATP1A2):c.*175C>T rs886045421 0.00006
NM_000702.4(ATP1A2):c.*910A>G rs886045424 0.00006
NM_000702.4(ATP1A2):c.1821C>T (p.Gly607=) rs771085157 0.00006
NM_000702.4(ATP1A2):c.193C>T (p.Arg65Trp) rs121918619 0.00006
NM_000702.4(ATP1A2):c.1461+5G>A rs199906945 0.00005
NM_000702.4(ATP1A2):c.*1356G>A rs538918257 0.00004
NM_000702.4(ATP1A2):c.969C>T (p.Ile323=) rs28716941 0.00004
NM_000702.4(ATP1A2):c.*511C>G rs907113046 0.00003
NM_000702.4(ATP1A2):c.*1737C>T rs776064194 0.00002
NM_000702.4(ATP1A2):c.1146C>T (p.Asn382=) rs763041955 0.00002
NM_000702.4(ATP1A2):c.151C>T (p.Arg51Cys) rs747283283 0.00002
NM_000702.4(ATP1A2):c.1572G>A (p.Glu524=) rs775192056 0.00002
NM_000702.4(ATP1A2):c.1578G>A (p.Pro526=) rs376128790 0.00002
NM_000702.4(ATP1A2):c.2412C>T (p.Ile804=) rs143969080 0.00002
NM_000702.4(ATP1A2):c.360G>A (p.Glu120=) rs369061211 0.00002
NM_000702.4(ATP1A2):c.*1630C>T rs886045433 0.00001
NM_000702.4(ATP1A2):c.*1712C>A rs1242345851 0.00001
NM_000702.4(ATP1A2):c.*1815G>C rs886045435 0.00001
NM_000702.4(ATP1A2):c.*1953T>C rs767882535 0.00001
NM_000702.4(ATP1A2):c.*535G>C rs961293073 0.00001
NM_000702.4(ATP1A2):c.*648A>G rs886045422 0.00001
NM_000702.4(ATP1A2):c.1098C>A (p.Gly366=) rs779356370 0.00001
NM_000702.4(ATP1A2):c.1244C>T (p.Thr415Met) rs121918618 0.00001
NM_000702.4(ATP1A2):c.1674A>G (p.Pro558=) rs769798147 0.00001
NM_000702.4(ATP1A2):c.1931G>A (p.Arg644Gln) rs745824475 0.00001
NM_000702.4(ATP1A2):c.2015C>T (p.Ser672Leu) rs145701604 0.00001
NM_000702.4(ATP1A2):c.2115+8C>T rs768746868 0.00001
NM_000702.4(ATP1A2):c.2285-7C>T rs915777286 0.00001
NM_000702.4(ATP1A2):c.2563+15G>A rs528454399 0.00001
NM_000702.4(ATP1A2):c.2564-14C>T rs775031246 0.00001
NM_000702.4(ATP1A2):c.285C>T (p.Phe95=) rs886045415 0.00001
NM_000702.4(ATP1A2):c.2877G>A (p.Thr959=) rs200127278 0.00001
NM_000702.4(ATP1A2):c.45G>A (p.Thr15=) rs764559670 0.00001
NM_000702.3(ATP1A2):c.-146G>A rs1651151470
NM_000702.4(ATP1A2):c.*1000T>A rs116194737
NM_000702.4(ATP1A2):c.*1007G>C rs1652178478
NM_000702.4(ATP1A2):c.*1035A>G rs886045425
NM_000702.4(ATP1A2):c.*1211C>A rs62621216
NM_000702.4(ATP1A2):c.*1241del rs886045426
NM_000702.4(ATP1A2):c.*1245A>C rs886045427
NM_000702.4(ATP1A2):c.*1284C>A rs78507938
NM_000702.4(ATP1A2):c.*1333dup rs538086614
NM_000702.4(ATP1A2):c.*143G>T rs886045420
NM_000702.4(ATP1A2):c.*1482del rs886045430
NM_000702.4(ATP1A2):c.*1496del rs138196662
NM_000702.4(ATP1A2):c.*1547_*1548delinsTT rs886045432
NM_000702.4(ATP1A2):c.*1643_*1646del rs533473532
NM_000702.4(ATP1A2):c.*18C>T rs886045418
NM_000702.4(ATP1A2):c.*2065G>A rs886045436
NM_000702.4(ATP1A2):c.*2070C>T rs886045437
NM_000702.4(ATP1A2):c.*2147T>G rs886045438
NM_000702.4(ATP1A2):c.*25T>C rs768950032
NM_000702.4(ATP1A2):c.*383C>T rs528397631
NM_000702.4(ATP1A2):c.*488G>T rs765388921
NM_000702.4(ATP1A2):c.*850C>T rs779877049
NM_000702.4(ATP1A2):c.111G>A (p.Val37=) rs886045414
NM_000702.4(ATP1A2):c.13-11_13-8del rs373796693
NM_000702.4(ATP1A2):c.1363C>A (p.Leu455Ile) rs1490998665
NM_000702.4(ATP1A2):c.1652-7C>A rs200102433
NM_000702.4(ATP1A2):c.1714G>A (p.Glu572Lys) rs1553245166
NM_000702.4(ATP1A2):c.1930C>T (p.Arg644Trp) rs150784486
NM_000702.4(ATP1A2):c.2014T>A (p.Ser672Thr) rs1651897433
NM_000702.4(ATP1A2):c.246C>G (p.Pro82=) rs537472446
NM_000702.4(ATP1A2):c.253C>T (p.Pro85Ser) rs1448339977
NM_000702.4(ATP1A2):c.2564-8A>G rs554846350
NM_000702.4(ATP1A2):c.2745C>T (p.Cys915=) rs1651972956
NM_000702.4(ATP1A2):c.754G>A (p.Ala252Thr) rs886045417

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