ClinVar Miner

List of variants in gene ATP1A2 reported by Invitae

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Total variants: 227
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HGVS dbSNP
NM_000702.4(ATP1A2):c.1017+7G>A rs1438633873
NM_000702.4(ATP1A2):c.1018-4C>T rs1553244873
NM_000702.4(ATP1A2):c.1028C>T (p.Thr343Ile) rs1553244875
NM_000702.4(ATP1A2):c.1043G>A (p.Arg348His) rs912419331
NM_000702.4(ATP1A2):c.106G>A (p.Glu36Lys)
NM_000702.4(ATP1A2):c.1092G>A (p.Thr364=) rs55741021
NM_000702.4(ATP1A2):c.1097G>A (p.Gly366Asp) rs1057518514
NM_000702.4(ATP1A2):c.1118C>T (p.Ser373Leu)
NM_000702.4(ATP1A2):c.1119G>A (p.Ser373=) rs1063125
NM_000702.4(ATP1A2):c.1125G>A (p.Lys375=) rs61734526
NM_000702.4(ATP1A2):c.1127C>G (p.Thr376Arg) rs121918620
NM_000702.4(ATP1A2):c.1127C>T (p.Thr376Met) rs121918620
NM_000702.4(ATP1A2):c.1128G>A (p.Thr376=) rs374374188
NM_000702.4(ATP1A2):c.112G>A (p.Ala38Thr)
NM_000702.4(ATP1A2):c.1133C>A (p.Thr378Asn) rs28934002
NM_000702.4(ATP1A2):c.1133C>T (p.Thr378Ile) rs28934002
NM_000702.4(ATP1A2):c.1146C>T (p.Asn382=) rs763041955
NM_000702.4(ATP1A2):c.1150A>G (p.Met384Val) rs1570988778
NM_000702.4(ATP1A2):c.1155C>T (p.Thr385=) rs759207376
NM_000702.4(ATP1A2):c.1165A>G (p.Met389Val)
NM_000702.4(ATP1A2):c.117+3G>A
NM_000702.4(ATP1A2):c.1171T>C (p.Phe391Leu)
NM_000702.4(ATP1A2):c.1203C>T (p.Thr401=) rs547954866
NM_000702.4(ATP1A2):c.1216+5T>C rs780155641
NM_000702.4(ATP1A2):c.1216+7G>T rs962782746
NM_000702.4(ATP1A2):c.1244C>T (p.Thr415Met) rs121918618
NM_000702.4(ATP1A2):c.1249A>G (p.Thr417Ala)
NM_000702.4(ATP1A2):c.1261C>T (p.Arg421Ter) rs1165052640
NM_000702.4(ATP1A2):c.1262G>A (p.Arg421Gln) rs139499540
NM_000702.4(ATP1A2):c.1284C>T (p.Arg428=) rs752479774
NM_000702.4(ATP1A2):c.1285G>A (p.Ala429Thr) rs776086125
NM_000702.4(ATP1A2):c.1287C>T (p.Ala429=) rs762571297
NM_000702.4(ATP1A2):c.1288G>A (p.Val430Ile) rs370111257
NM_000702.4(ATP1A2):c.129G>A (p.Lys43=) rs61734527
NM_000702.4(ATP1A2):c.13-6C>A
NM_000702.4(ATP1A2):c.1305G>A (p.Gln435=) rs1243724562
NM_000702.4(ATP1A2):c.1308G>T (p.Glu436Asp)
NM_000702.4(ATP1A2):c.1317C>T (p.Ser439=) rs759939624
NM_000702.4(ATP1A2):c.1318G>T (p.Val440Leu)
NM_000702.4(ATP1A2):c.1326+7G>A rs751078196
NM_000702.4(ATP1A2):c.1326+8del rs763762298
NM_000702.4(ATP1A2):c.1335A>G (p.Thr445=) rs1570989335
NM_000702.4(ATP1A2):c.1368G>A (p.Lys456=) rs369226331
NM_000702.4(ATP1A2):c.1382C>T (p.Ser461Phe) rs751491994
NM_000702.4(ATP1A2):c.1395G>A (p.Val465=) rs1570989373
NM_000702.4(ATP1A2):c.1415A>G (p.Asn472Ser) rs529607288
NM_000702.4(ATP1A2):c.1418C>T (p.Pro473Leu)
NM_000702.4(ATP1A2):c.1427C>T (p.Ala476Val)
NM_000702.4(ATP1A2):c.1461+5G>A rs199906945
NM_000702.4(ATP1A2):c.1462-10G>C rs1409479382
NM_000702.4(ATP1A2):c.1464G>C (p.Leu488=) rs1570989987
NM_000702.4(ATP1A2):c.1470C>T (p.Ile490=) rs111405592
NM_000702.4(ATP1A2):c.1474G>A (p.Glu492Lys) rs142348542
NM_000702.4(ATP1A2):c.1488C>T (p.Ser496=) rs1389306585
NM_000702.4(ATP1A2):c.149G>T (p.Gly50Val) rs1570983300
NM_000702.4(ATP1A2):c.1500C>T (p.His500=) rs140480795
NM_000702.4(ATP1A2):c.1501G>A (p.Val501Met) rs150465651
NM_000702.4(ATP1A2):c.1514A>C (p.Lys505Thr) rs1570990059
NM_000702.4(ATP1A2):c.151C>T (p.Arg51Cys)
NM_000702.4(ATP1A2):c.1528C>T (p.Arg510Cys) rs750109401
NM_000702.4(ATP1A2):c.152G>A (p.Arg51His) rs144106169
NM_000702.4(ATP1A2):c.152G>T (p.Arg51Leu) rs144106169
NM_000702.4(ATP1A2):c.1540C>T (p.Arg514Trp) rs781474239
NM_000702.4(ATP1A2):c.1541G>A (p.Arg514Gln) rs748654627
NM_000702.4(ATP1A2):c.1550C>A (p.Thr517Asn) rs749326394
NM_000702.4(ATP1A2):c.1574T>C (p.Ile525Thr)
NM_000702.4(ATP1A2):c.1578G>A (p.Pro526=) rs376128790
NM_000702.4(ATP1A2):c.1581C>G (p.Leu527=) rs371520433
NM_000702.4(ATP1A2):c.1582G>A (p.Asp528Asn) rs374501280
NM_000702.4(ATP1A2):c.1590G>A (p.Glu530=) rs1042062045
NM_000702.4(ATP1A2):c.1594C>G (p.Gln532Glu)
NM_000702.4(ATP1A2):c.159C>T (p.Tyr53=) rs748066442
NM_000702.4(ATP1A2):c.1639del (p.Glu547fs)
NM_000702.4(ATP1A2):c.1652-3T>C rs1553245152
NM_000702.4(ATP1A2):c.1652-7C>A rs200102433
NM_000702.4(ATP1A2):c.1652-7C>G rs200102433
NM_000702.4(ATP1A2):c.1652-8C>T rs370023134
NM_000702.4(ATP1A2):c.1652-9C>A
NM_000702.4(ATP1A2):c.1666A>T (p.Asn556Tyr) rs141467566
NM_000702.4(ATP1A2):c.1679G>C (p.Gly560Ala)
NM_000702.4(ATP1A2):c.1691G>A (p.Arg564Gln) rs765936799
NM_000702.4(ATP1A2):c.1704C>T (p.Phe568=) rs17846714
NM_000702.4(ATP1A2):c.1731G>A (p.Thr577=)
NM_000702.4(ATP1A2):c.1735A>G (p.Lys579Glu) rs535175099
NM_000702.4(ATP1A2):c.1743C>A (p.Cys581Ter) rs1570990484
NM_000702.4(ATP1A2):c.1761T>C (p.Ser587=) rs199621678
NM_000702.4(ATP1A2):c.176A>C (p.Lys59Thr)
NM_000702.4(ATP1A2):c.1777C>T (p.Arg593Trp) rs886039530
NM_000702.4(ATP1A2):c.1778G>T (p.Arg593Leu) rs1553245178
NM_000702.4(ATP1A2):c.1779G>A (p.Arg593=) rs1553245179
NM_000702.4(ATP1A2):c.1806G>A (p.Lys602=) rs1553245180
NM_000702.4(ATP1A2):c.1811G>A (p.Arg604Gln) rs747238010
NM_000702.4(ATP1A2):c.1821C>T (p.Gly607=) rs771085157
NM_000702.4(ATP1A2):c.1827+3A>G rs377238291
NM_000702.4(ATP1A2):c.1842C>T (p.Thr614=) rs760365280
NM_000702.4(ATP1A2):c.1859C>G (p.Thr620Arg) rs1057521886
NM_000702.4(ATP1A2):c.1866G>A (p.Lys622=) rs763242526
NM_000702.4(ATP1A2):c.1881C>T (p.Gly627=) rs775031080
NM_000702.4(ATP1A2):c.188del (p.Asn63fs)
NM_000702.4(ATP1A2):c.1891A>G (p.Ile631Val) rs201977531
NM_000702.4(ATP1A2):c.192G>T (p.Gln64His) rs796052282
NM_000702.4(ATP1A2):c.1930C>T (p.Arg644Trp) rs150784486
NM_000702.4(ATP1A2):c.193C>T (p.Arg65Trp) rs121918619
NM_000702.4(ATP1A2):c.194G>T (p.Arg65Leu) rs187733403
NM_000702.4(ATP1A2):c.1959C>A (p.Asn653Lys)
NM_000702.4(ATP1A2):c.1975G>T (p.Ala659Ser)
NM_000702.4(ATP1A2):c.1980C>T (p.Cys660=) rs61734529
NM_000702.4(ATP1A2):c.19C>G (p.Arg7Gly)
NM_000702.4(ATP1A2):c.202G>T (p.Asp68Tyr)
NM_000702.4(ATP1A2):c.205G>A (p.Val69Ile) rs558323868
NM_000702.4(ATP1A2):c.2062G>T (p.Ala688Ser) rs200425518
NM_000702.4(ATP1A2):c.2070G>A (p.Thr690=) rs142865268
NM_000702.4(ATP1A2):c.2088C>T (p.Leu696=) rs151052102
NM_000702.4(ATP1A2):c.2116-8C>G rs367577421
NM_000702.4(ATP1A2):c.211G>A (p.Ala71Thr)
NM_000702.4(ATP1A2):c.2123T>A (p.Ile708Asn) rs1341609289
NM_000702.4(ATP1A2):c.2123T>C (p.Ile708Thr)
NM_000702.4(ATP1A2):c.2128G>T (p.Ala710Ser)
NM_000702.4(ATP1A2):c.2130C>T (p.Ala710=) rs374749325
NM_000702.4(ATP1A2):c.2131G>A (p.Val711Met) rs1282248061
NM_000702.4(ATP1A2):c.2142C>T (p.Asp714=) rs139022921
NM_000702.4(ATP1A2):c.2143G>A (p.Gly715Arg) rs1553245771
NM_000702.4(ATP1A2):c.2187T>C (p.Ile729=) rs751808345
NM_000702.4(ATP1A2):c.2229C>T (p.Ala743=) rs138381089
NM_000702.4(ATP1A2):c.2251A>G (p.Asn751Asp)
NM_000702.4(ATP1A2):c.2263A>G (p.Ile755Val) rs1038057853
NM_000702.4(ATP1A2):c.2266G>A (p.Val756Ile) rs777895941
NM_000702.4(ATP1A2):c.2273G>C (p.Gly758Ala) rs147183887
NM_000702.4(ATP1A2):c.2275G>T (p.Val759Leu) rs1553245779
NM_000702.4(ATP1A2):c.2284+8G>C rs763689415
NM_000702.4(ATP1A2):c.2285-7C>T rs915777286
NM_000702.4(ATP1A2):c.2285G>C (p.Gly762Ala) rs1461860929
NM_000702.4(ATP1A2):c.2308A>G (p.Lys770Glu)
NM_000702.4(ATP1A2):c.2374A>G (p.Ile792Val) rs758749177
NM_000702.4(ATP1A2):c.2412C>T (p.Ile804=) rs143969080
NM_000702.4(ATP1A2):c.2424C>G (p.Asp808Glu) rs1570994712
NM_000702.4(ATP1A2):c.2426T>G (p.Leu809Arg) rs1553245805
NM_000702.4(ATP1A2):c.2434G>C (p.Asp812His) rs1558008759
NM_000702.4(ATP1A2):c.2440-6A>C rs1553245840
NM_000702.4(ATP1A2):c.2460C>A (p.Ala820=) rs201669294
NM_000702.4(ATP1A2):c.246C>G (p.Pro82=) rs537472446
NM_000702.4(ATP1A2):c.2471dup (p.Ala824_Glu825insTer)
NM_000702.4(ATP1A2):c.250A>G (p.Thr84Ala)
NM_000702.4(ATP1A2):c.2514G>A (p.Thr838=) rs140646289
NM_000702.4(ATP1A2):c.2563+4C>T rs3747626
NM_000702.4(ATP1A2):c.2563G>A (p.Gly855Arg) rs1553245857
NM_000702.4(ATP1A2):c.2564-5C>T rs1570995340
NM_000702.4(ATP1A2):c.2564-8A>G rs554846350
NM_000702.4(ATP1A2):c.2564G>A (p.Gly855Glu) rs149144720
NM_000702.4(ATP1A2):c.25T>A (p.Tyr9Asn) rs55858252
NM_000702.4(ATP1A2):c.2636G>A (p.Arg879Gln) rs761597771
NM_000702.4(ATP1A2):c.2650C>T (p.Arg884Cys)
NM_000702.4(ATP1A2):c.2683C>T (p.Leu895=) rs140057048
NM_000702.4(ATP1A2):c.2716G>C (p.Glu906Gln)
NM_000702.4(ATP1A2):c.2742G>A (p.Thr914=) rs201215311
NM_000702.4(ATP1A2):c.2742G>T (p.Thr914=) rs201215311
NM_000702.4(ATP1A2):c.2751G>A (p.Thr917=) rs146839867
NM_000702.4(ATP1A2):c.2752G>A (p.Ala918Thr)
NM_000702.4(ATP1A2):c.2770G>A (p.Val924Met) rs373276446
NM_000702.4(ATP1A2):c.2774T>C (p.Val925Ala)
NM_000702.4(ATP1A2):c.2790C>T (p.Asp930=) rs376259974
NM_000702.4(ATP1A2):c.280C>A (p.Leu94Ile) rs950102855
NM_000702.4(ATP1A2):c.2841-8C>T rs1553246128
NM_000702.4(ATP1A2):c.2859T>G (p.Phe953Leu)
NM_000702.4(ATP1A2):c.2868G>A (p.Leu956=)
NM_000702.4(ATP1A2):c.2870A>C (p.Glu957Ala)
NM_000702.4(ATP1A2):c.2876C>T (p.Thr959Met) rs1226796744
NM_000702.4(ATP1A2):c.2877G>A (p.Thr959=) rs200127278
NM_000702.4(ATP1A2):c.2880G>T (p.Ala960=) rs762969049
NM_000702.4(ATP1A2):c.2895C>G (p.Leu965=) rs200706103
NM_000702.4(ATP1A2):c.291G>T (p.Gly97=) rs759566498
NM_000702.4(ATP1A2):c.2923C>T (p.Leu975Phe)
NM_000702.4(ATP1A2):c.2926C>A (p.Arg976Ser)
NM_000702.4(ATP1A2):c.2936C>T (p.Pro979Leu) rs121918615
NM_000702.4(ATP1A2):c.2961C>T (p.Cys987=) rs74123254
NM_000702.4(ATP1A2):c.2967C>T (p.Phe989=) rs138826759
NM_000702.4(ATP1A2):c.2969C>T (p.Pro990Leu) rs775974337
NM_000702.4(ATP1A2):c.2973C>T (p.Tyr991=) rs149286529
NM_000702.4(ATP1A2):c.3014T>C (p.Ile1005Thr) rs369228503
NM_000702.4(ATP1A2):c.3023G>A (p.Arg1008Gln)
NM_000702.4(ATP1A2):c.3034+6C>A rs574788908
NM_000702.4(ATP1A2):c.335C>A (p.Ala112Asp) rs878854140
NM_000702.4(ATP1A2):c.339C>T (p.Tyr113=) rs148929192
NM_000702.4(ATP1A2):c.340G>A (p.Gly114Ser) rs116711766
NM_000702.4(ATP1A2):c.354C>T (p.Ala118=) rs765171580
NM_000702.4(ATP1A2):c.36C>T (p.Ala12=) rs767913105
NM_000702.4(ATP1A2):c.381+3G>A
NM_000702.4(ATP1A2):c.381T>C (p.Asn127=) rs139243866
NM_000702.4(ATP1A2):c.398T>C (p.Val133Ala)
NM_000702.4(ATP1A2):c.45G>A (p.Thr15=)
NM_000702.4(ATP1A2):c.471T>C (p.Asp157=) rs553035942
NM_000702.4(ATP1A2):c.495+10C>G rs1226066700
NM_000702.4(ATP1A2):c.495+7T>C rs377435696
NM_000702.4(ATP1A2):c.496-1G>A
NM_000702.4(ATP1A2):c.512G>A (p.Arg171Gln) rs1553244392
NM_000702.4(ATP1A2):c.586C>T (p.Arg196Cys) rs753517155
NM_000702.4(ATP1A2):c.58G>A (p.Gly20Ser) rs1558002462
NM_000702.4(ATP1A2):c.600C>T (p.Asp200=) rs1060504129
NM_000702.4(ATP1A2):c.607A>C (p.Ile203Leu) rs1259959010
NM_000702.4(ATP1A2):c.621T>A (p.His207Gln)
NM_000702.4(ATP1A2):c.627T>C (p.Cys209=) rs139229302
NM_000702.4(ATP1A2):c.633G>A (p.Val211=)
NM_000702.4(ATP1A2):c.660G>A (p.Ser220=) rs564452950
NM_000702.4(ATP1A2):c.664C>T (p.Pro222Ser) rs1570986069
NM_000702.4(ATP1A2):c.674G>A (p.Arg225His) rs778741638
NM_000702.4(ATP1A2):c.67A>G (p.Lys23Glu)
NM_000702.4(ATP1A2):c.694G>C (p.Glu232Gln)
NM_000702.4(ATP1A2):c.712C>T (p.Arg238Cys) rs1558004341
NM_000702.4(ATP1A2):c.741T>C (p.Cys247=) rs371882060
NM_000702.4(ATP1A2):c.748+3G>A
NM_000702.4(ATP1A2):c.764T>C (p.Ile255Thr)
NM_000702.4(ATP1A2):c.765T>A (p.Ile255=) rs377281050
NM_000702.4(ATP1A2):c.785G>A (p.Arg262Gln)
NM_000702.4(ATP1A2):c.789G>A (p.Thr263=) rs748890267
NM_000702.4(ATP1A2):c.794T>C (p.Met265Thr)
NM_000702.4(ATP1A2):c.813C>G (p.Leu271=) rs747740289
NM_000702.4(ATP1A2):c.813C>T (p.Leu271=) rs747740289
NM_000702.4(ATP1A2):c.836G>A (p.Arg279Gln) rs373178892
NM_000702.4(ATP1A2):c.889G>A (p.Ala297Thr) rs181618883
NM_000702.4(ATP1A2):c.892G>C (p.Val298Leu) rs757867108
NM_000702.4(ATP1A2):c.8G>A (p.Arg3His) rs781687346
NM_000702.4(ATP1A2):c.916G>A (p.Val306Met)
NM_000702.4(ATP1A2):c.969C>T (p.Ile323=) rs28716941
NM_000702.4(ATP1A2):c.970G>A (p.Gly324Ser) rs1570987954
NM_000702.4(ATP1A2):c.987C>T (p.Asn329=) rs770381135
NM_000702.4(ATP1A2):c.988G>A (p.Val330Met)
NM_000702.4(ATP1A2):c.993T>G (p.Pro331=) rs773614984

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