ClinVar Miner

List of variants in gene ATP1A2 reported by GeneDx

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Total variants: 206
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HGVS dbSNP
NC_000001.11:g.160115491A>T
NM_000702.3(ATP1A2):c.1018-15_1018-13delCTC rs1064795923
NM_000702.3(ATP1A2):c.13-11_13-8delTCCT rs373796693
NM_000702.3(ATP1A2):c.13-14delC rs796052275
NM_000702.3(ATP1A2):c.1326+8delG rs763762298
NM_000702.4(ATP1A2):c.*6T>C rs796052273
NM_000702.4(ATP1A2):c.*9_*11GAA[2] rs796052274
NM_000702.4(ATP1A2):c.-14C>G rs756960901
NM_000702.4(ATP1A2):c.-30G>A rs759542448
NM_000702.4(ATP1A2):c.-31C>G rs192111085
NM_000702.4(ATP1A2):c.-33C>A rs1323771499
NM_000702.4(ATP1A2):c.-48C>G rs41265761
NM_000702.4(ATP1A2):c.1017+56G>A
NM_000702.4(ATP1A2):c.1017+5G>A rs1085307953
NM_000702.4(ATP1A2):c.1017+9G>T rs1057521623
NM_000702.4(ATP1A2):c.1022G>T (p.Cys341Phe) rs1057521630
NM_000702.4(ATP1A2):c.108G>A (p.Glu36=) rs1553244021
NM_000702.4(ATP1A2):c.1092G>A (p.Thr364=) rs55741021
NM_000702.4(ATP1A2):c.1097G>C (p.Gly366Ala) rs1057518514
NM_000702.4(ATP1A2):c.1104G>A (p.Thr368=) rs138766432
NM_000702.4(ATP1A2):c.1110C>T (p.Thr370=) rs747219922
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.1128G>A (p.Thr376=) rs374374188
NM_000702.4(ATP1A2):c.1133C>T (p.Thr378Ile) rs28934002
NM_000702.4(ATP1A2):c.1148G>A (p.Arg383His) rs765909830
NM_000702.4(ATP1A2):c.1155C>A (p.Thr385=) rs759207376
NM_000702.4(ATP1A2):c.1158C>T (p.Val386=) rs752381925
NM_000702.4(ATP1A2):c.1182A>G (p.Gln394=) rs1553244893
NM_000702.4(ATP1A2):c.12+205A>C
NM_000702.4(ATP1A2):c.12+292A>C
NM_000702.4(ATP1A2):c.1203C>T (p.Thr401=) rs547954866
NM_000702.4(ATP1A2):c.1216+12C>T rs748392461
NM_000702.4(ATP1A2):c.1216+5T>G rs780155641
NM_000702.4(ATP1A2):c.1251G>A (p.Thr417=) rs142309356
NM_000702.4(ATP1A2):c.1251G>C (p.Thr417=) rs142309356
NM_000702.4(ATP1A2):c.1263A>G (p.Arg421=) rs1057523616
NM_000702.4(ATP1A2):c.1282C>T (p.Arg428Cys) rs779985796
NM_000702.4(ATP1A2):c.1283G>A (p.Arg428His) rs746478136
NM_000702.4(ATP1A2):c.128A>G (p.Lys43Arg) rs796052281
NM_000702.4(ATP1A2):c.129G>A (p.Lys43=) rs61734527
NM_000702.4(ATP1A2):c.13-22T>C
NM_000702.4(ATP1A2):c.1311C>T (p.Asn437=) rs1057521266
NM_000702.4(ATP1A2):c.1317C>T (p.Ser439=) rs759939624
NM_000702.4(ATP1A2):c.1318G>A (p.Val440Met) rs768088341
NM_000702.4(ATP1A2):c.1327-12C>G rs903572955
NM_000702.4(ATP1A2):c.1368G>A (p.Lys456=) rs369226331
NM_000702.4(ATP1A2):c.1410C>G (p.Asp470Glu) rs533400580
NM_000702.4(ATP1A2):c.1415A>G (p.Asn472Ser) rs529607288
NM_000702.4(ATP1A2):c.1432A>G (p.Ile478Val) rs1553245013
NM_000702.4(ATP1A2):c.1461+5G>A rs199906945
NM_000702.4(ATP1A2):c.1462-5T>A rs796052272
NM_000702.4(ATP1A2):c.1470C>T (p.Ile490=) rs111405592
NM_000702.4(ATP1A2):c.1473C>T (p.His491=) rs768902765
NM_000702.4(ATP1A2):c.1474G>A (p.Glu492Lys) rs142348542
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.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.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.1643G>A (p.Arg548His) rs121918616
NM_000702.4(ATP1A2):c.1647G>T (p.Val549=) rs1553245135
NM_000702.4(ATP1A2):c.1652-18C>A rs372842016
NM_000702.4(ATP1A2):c.1652-6C>T rs768543626
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.1661A>T (p.Gln554Leu) rs199749129
NM_000702.4(ATP1A2):c.1666A>T (p.Asn556Tyr) rs141467566
NM_000702.4(ATP1A2):c.1690C>T (p.Arg564Trp) rs762330744
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.1710G>A (p.Thr570=) rs536168465
NM_000702.4(ATP1A2):c.1714G>A (p.Glu572Lys) rs1553245166
NM_000702.4(ATP1A2):c.1740T>G (p.Leu580=) rs978157409
NM_000702.4(ATP1A2):c.1761T>C (p.Ser587=) rs199621678
NM_000702.4(ATP1A2):c.177+20G>C rs1475100565
NM_000702.4(ATP1A2):c.177+305G>A
NM_000702.4(ATP1A2):c.1777C>T (p.Arg593Trp) rs886039530
NM_000702.4(ATP1A2):c.1815C>T (p.Ser605=) rs771651622
NM_000702.4(ATP1A2):c.1816G>A (p.Ala606Thr) rs1414742926
NM_000702.4(ATP1A2):c.1821C>T (p.Gly607=) rs771085157
NM_000702.4(ATP1A2):c.1827+134A>G
NM_000702.4(ATP1A2):c.1827+38C>T
NM_000702.4(ATP1A2):c.1859C>G (p.Thr620Arg) rs1057521886
NM_000702.4(ATP1A2):c.1882G>A (p.Val628Met) rs1553245659
NM_000702.4(ATP1A2):c.1888A>G (p.Ile630Val) rs1382260409
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.193C>T (p.Arg65Trp) rs121918619
NM_000702.4(ATP1A2):c.194G>T (p.Arg65Leu) rs187733403
NM_000702.4(ATP1A2):c.1959C>T (p.Asn653=)
NM_000702.4(ATP1A2):c.1962C>G (p.Pro654=) rs1057523083
NM_000702.4(ATP1A2):c.1964+14A>G rs201131020
NM_000702.4(ATP1A2):c.1965-130G>T
NM_000702.4(ATP1A2):c.1965-214A>C
NM_000702.4(ATP1A2):c.1980C>T (p.Cys660=) rs61734529
NM_000702.4(ATP1A2):c.1990G>A (p.Gly664Ser) rs1483366741
NM_000702.4(ATP1A2):c.2016G>A (p.Ser672=) rs762744089
NM_000702.4(ATP1A2):c.205G>A (p.Val69Ile) rs558323868
NM_000702.4(ATP1A2):c.2088C>T (p.Leu696=) rs151052102
NM_000702.4(ATP1A2):c.2102del (p.Gly701fs) rs1064794725
NM_000702.4(ATP1A2):c.2103A>T (p.Gly701=) rs963491650
NM_000702.4(ATP1A2):c.2115+14C>T rs200854586
NM_000702.4(ATP1A2):c.2115+15G>A rs769939965
NM_000702.4(ATP1A2):c.2115+16G>T rs1426409869
NM_000702.4(ATP1A2):c.2115+19G>A rs375635569
NM_000702.4(ATP1A2):c.2116-14C>T rs748188822
NM_000702.4(ATP1A2):c.2128G>A (p.Ala710Thr) rs1553245764
NM_000702.4(ATP1A2):c.2130C>T (p.Ala710=) rs374749325
NM_000702.4(ATP1A2):c.2136G>A (p.Thr712=) rs760213030
NM_000702.4(ATP1A2):c.2142C>T (p.Asp714=) rs139022921
NM_000702.4(ATP1A2):c.2148G>A (p.Val716=) rs1057523552
NM_000702.4(ATP1A2):c.2230G>A (p.Asp744Asn) rs1131691922
NM_000702.4(ATP1A2):c.2271G>A (p.Thr757=) rs202094576
NM_000702.4(ATP1A2):c.2273G>C (p.Gly758Ala) rs147183887
NM_000702.4(ATP1A2):c.2284+18G>T rs369835706
NM_000702.4(ATP1A2):c.2374A>G (p.Ile792Val) rs758749177
NM_000702.4(ATP1A2):c.2427G>A (p.Leu809=) rs369916877
NM_000702.4(ATP1A2):c.2438T>A (p.Met813Lys) rs796052277
NM_000702.4(ATP1A2):c.2439+13G>A rs1038003940
NM_000702.4(ATP1A2):c.2439+6C>T rs374355050
NM_000702.4(ATP1A2):c.2440-14C>T rs200630442
NM_000702.4(ATP1A2):c.2440-26C>T
NM_000702.4(ATP1A2):c.246C>G (p.Pro82=) rs537472446
NM_000702.4(ATP1A2):c.2500C>T (p.Arg834Ter) rs755310507
NM_000702.4(ATP1A2):c.2514G>A (p.Thr838=) rs140646289
NM_000702.4(ATP1A2):c.2517C>G (p.Asp839Glu) rs752471668
NM_000702.4(ATP1A2):c.2554G>C (p.Gly852Arg) rs1553245853
NM_000702.4(ATP1A2):c.2562C>T (p.Ile854=) rs371086182
NM_000702.4(ATP1A2):c.2563+17G>A rs1553245863
NM_000702.4(ATP1A2):c.2563+4C>T rs3747626
NM_000702.4(ATP1A2):c.2564-8A>G rs554846350
NM_000702.4(ATP1A2):c.2589C>T (p.Phe863=) rs760872961
NM_000702.4(ATP1A2):c.25T>A (p.Tyr9Asn) rs55858252
NM_000702.4(ATP1A2):c.2709+11C>T rs115441094
NM_000702.4(ATP1A2):c.2709+17A>G rs961165805
NM_000702.4(ATP1A2):c.2710-19C>G rs757662486
NM_000702.4(ATP1A2):c.2722C>T (p.Arg908Trp) rs758772895
NM_000702.4(ATP1A2):c.274C>T (p.Arg92Cys) rs796052278
NM_000702.4(ATP1A2):c.2751G>A (p.Thr917=) rs146839867
NM_000702.4(ATP1A2):c.2770G>A (p.Val924Met) rs373276446
NM_000702.4(ATP1A2):c.2790C>T (p.Asp930=) rs376259974
NM_000702.4(ATP1A2):c.280C>T (p.Leu94Phe) rs950102855
NM_000702.4(ATP1A2):c.2840+36G>A
NM_000702.4(ATP1A2):c.2841-20dup rs397775888
NM_000702.4(ATP1A2):c.2841-7C>T rs1057521032
NM_000702.4(ATP1A2):c.2850C>G (p.Ile950Met) rs1553246129
NM_000702.4(ATP1A2):c.2877G>A (p.Thr959=) rs200127278
NM_000702.4(ATP1A2):c.2887G>A (p.Ala963Thr) rs1057523245
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.2937G>T (p.Pro979=) rs201879002
NM_000702.4(ATP1A2):c.2942+16G>A rs776114360
NM_000702.4(ATP1A2):c.2942+19C>T rs187187416
NM_000702.4(ATP1A2):c.2943-15C>T rs111510835
NM_000702.4(ATP1A2):c.2943-75C>G
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.2993A>G (p.Tyr998Cys) rs1085307501
NM_000702.4(ATP1A2):c.29C>T (p.Ser10Leu) rs762611119
NM_000702.4(ATP1A2):c.3034+6C>A rs574788908
NM_000702.4(ATP1A2):c.3035-272C>T
NM_000702.4(ATP1A2):c.3035-284A>T
NM_000702.4(ATP1A2):c.3035-286G>A
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.36C>T (p.Ala12=) rs767913105
NM_000702.4(ATP1A2):c.381+12C>T rs368856029
NM_000702.4(ATP1A2):c.381+13G>A
NM_000702.4(ATP1A2):c.381+13G>T rs772082739
NM_000702.4(ATP1A2):c.44C>T (p.Thr15Met) rs371257019
NM_000702.4(ATP1A2):c.481A>G (p.Asn161Asp) rs796052279
NM_000702.4(ATP1A2):c.495+65T>C
NM_000702.4(ATP1A2):c.495+81T>A
NM_000702.4(ATP1A2):c.495+96G>A
NM_000702.4(ATP1A2):c.495+9G>T rs1057522630
NM_000702.4(ATP1A2):c.496-15T>C rs1057522605
NM_000702.4(ATP1A2):c.513G>A (p.Arg171=) rs770882300
NM_000702.4(ATP1A2):c.56G>T (p.Gly19Val) rs757373744
NM_000702.4(ATP1A2):c.619C>T (p.His207Tyr) rs1057523810
NM_000702.4(ATP1A2):c.630+123T>C
NM_000702.4(ATP1A2):c.630+238A>G
NM_000702.4(ATP1A2):c.631-16A>G rs571618030
NM_000702.4(ATP1A2):c.631-231T>G
NM_000702.4(ATP1A2):c.631-282A>G
NM_000702.4(ATP1A2):c.660G>A (p.Ser220=) rs564452950
NM_000702.4(ATP1A2):c.705G>A (p.Leu235=) rs1019036534
NM_000702.4(ATP1A2):c.736A>G (p.Asn246Asp) rs764917849
NM_000702.4(ATP1A2):c.748+246dup
NM_000702.4(ATP1A2):c.748+84T>A
NM_000702.4(ATP1A2):c.749-27C>A
NM_000702.4(ATP1A2):c.789G>A (p.Thr263=) rs748890267
NM_000702.4(ATP1A2):c.799C>T (p.Arg267Cys) rs1399834873
NM_000702.4(ATP1A2):c.836G>A (p.Arg279Gln) rs373178892
NM_000702.4(ATP1A2):c.882_897del (p.Gly295fs) rs1064796771
NM_000702.4(ATP1A2):c.889G>A (p.Ala297Thr) rs181618883
NM_000702.4(ATP1A2):c.8G>A (p.Arg3His) rs781687346
NM_000702.4(ATP1A2):c.982G>A (p.Ala328Thr) rs1064796371
NM_000702.4(ATP1A2):c.987C>T (p.Asn329=) rs770381135

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