ClinVar Miner

List of variants in gene ATP1A2 studied for Inborn genetic diseases

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Total variants: 120
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HGVS dbSNP gnomAD frequency
NM_000702.4(ATP1A2):c.1119G>A (p.Ser373=) rs1063125 0.18737
NM_000702.4(ATP1A2):c.2259C>T (p.Ala753=) rs17846715 0.09239
NM_000702.4(ATP1A2):c.1704C>T (p.Phe568=) rs17846714 0.03612
NM_000702.4(ATP1A2):c.2961C>T (p.Cys987=) rs74123254 0.02590
NM_000702.4(ATP1A2):c.1980C>T (p.Cys660=) rs61734529 0.02067
NM_000702.4(ATP1A2):c.129G>A (p.Lys43=) rs61734527 0.00766
NM_000702.4(ATP1A2):c.1125G>A (p.Lys375=) rs61734526 0.00307
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.2563+4C>T rs3747626 0.00088
NM_000702.4(ATP1A2):c.340G>A (p.Gly114Ser) rs116711766 0.00075
NM_000702.4(ATP1A2):c.2751G>A (p.Thr917=) rs146839867 0.00069
NM_000702.4(ATP1A2):c.836G>A (p.Arg279Gln) rs373178892 0.00056
NM_000702.4(ATP1A2):c.1474G>A (p.Glu492Lys) rs142348542 0.00055
NM_000702.4(ATP1A2):c.1470C>T (p.Ile490=) rs111405592 0.00044
NM_000702.4(ATP1A2):c.246C>G (p.Pro82=) rs537472446 0.00029
NM_000702.4(ATP1A2):c.339C>T (p.Tyr113=) rs148929192 0.00026
NM_000702.4(ATP1A2):c.2973C>T (p.Tyr991=) rs149286529 0.00024
NM_000702.4(ATP1A2):c.2273G>C (p.Gly758Ala) rs147183887 0.00021
NM_000702.4(ATP1A2):c.862C>T (p.His288Tyr) rs754699681 0.00021
NM_000702.4(ATP1A2):c.194G>T (p.Arg65Leu) rs187733403 0.00019
NM_000702.4(ATP1A2):c.1594C>G (p.Gln532Glu) rs575299887 0.00016
NM_000702.4(ATP1A2):c.1581C>G (p.Leu527=) rs371520433 0.00010
NM_000702.4(ATP1A2):c.1415A>G (p.Asn472Ser) rs529607288 0.00009
NM_000702.4(ATP1A2):c.2070G>A (p.Thr690=) rs142865268 0.00008
NM_000702.4(ATP1A2):c.2142C>T (p.Asp714=) rs139022921 0.00007
NM_000702.4(ATP1A2):c.152G>A (p.Arg51His) rs144106169 0.00006
NM_000702.4(ATP1A2):c.1761T>C (p.Ser587=) rs199621678 0.00006
NM_000702.4(ATP1A2):c.1821C>T (p.Gly607=) rs771085157 0.00006
NM_000702.4(ATP1A2):c.3014T>C (p.Ile1005Thr) rs369228503 0.00006
NM_000702.4(ATP1A2):c.1287C>T (p.Ala429=) rs762571297 0.00005
NM_000702.4(ATP1A2):c.1368G>A (p.Lys456=) rs369226331 0.00005
NM_000702.4(ATP1A2):c.1461+5G>A rs199906945 0.00005
NM_000702.4(ATP1A2):c.2374A>G (p.Ile792Val) rs758749177 0.00005
NM_000702.4(ATP1A2):c.969C>T (p.Ile323=) rs28716941 0.00005
NM_000702.4(ATP1A2):c.987C>T (p.Asn329=) rs770381135 0.00005
NM_000702.4(ATP1A2):c.2151C>T (p.Asn717=) rs140707454 0.00004
NM_000702.4(ATP1A2):c.1156G>A (p.Val386Ile) rs137878081 0.00003
NM_000702.4(ATP1A2):c.1284C>T (p.Arg428=) rs752479774 0.00003
NM_000702.4(ATP1A2):c.2136G>A (p.Thr712=) rs760213030 0.00003
NM_000702.4(ATP1A2):c.2683C>T (p.Leu895=) rs140057048 0.00003
NM_000702.4(ATP1A2):c.3023G>A (p.Arg1008Gln) rs781023681 0.00003
NM_000702.4(ATP1A2):c.36C>T (p.Ala12=) rs767913105 0.00003
NM_000702.4(ATP1A2):c.1146C>T (p.Asn382=) rs763041955 0.00002
NM_000702.4(ATP1A2):c.1203C>T (p.Thr401=) rs547954866 0.00002
NM_000702.4(ATP1A2):c.1478G>A (p.Arg493Gln) rs773318002 0.00002
NM_000702.4(ATP1A2):c.1496G>A (p.Ser499Asn) rs767230468 0.00002
NM_000702.4(ATP1A2):c.1700A>G (p.Lys567Arg) rs374724827 0.00002
NM_000702.4(ATP1A2):c.1710G>A (p.Thr570=) rs536168465 0.00002
NM_000702.4(ATP1A2):c.275G>A (p.Arg92His) rs774275559 0.00002
NM_000702.4(ATP1A2):c.360G>A (p.Glu120=) rs369061211 0.00002
NM_000702.4(ATP1A2):c.789G>A (p.Thr263=) rs748890267 0.00002
NM_000702.4(ATP1A2):c.892G>C (p.Val298Leu) rs757867108 0.00002
NM_000702.4(ATP1A2):c.1018-5A>G rs776327796 0.00001
NM_000702.4(ATP1A2):c.1043G>A (p.Arg348His) rs912419331 0.00001
NM_000702.4(ATP1A2):c.1332C>T (p.Asp444=) rs765455081 0.00001
NM_000702.4(ATP1A2):c.1528C>T (p.Arg510Cys) rs750109401 0.00001
NM_000702.4(ATP1A2):c.1690C>T (p.Arg564Trp) rs762330744 0.00001
NM_000702.4(ATP1A2):c.1735A>G (p.Lys579Glu) rs535175099 0.00001
NM_000702.4(ATP1A2):c.1881C>T (p.Gly627=) rs775031080 0.00001
NM_000702.4(ATP1A2):c.1911T>C (p.Thr637=) rs550181745 0.00001
NM_000702.4(ATP1A2):c.192G>T (p.Gln64His) rs796052282 0.00001
NM_000702.4(ATP1A2):c.1939A>G (p.Ile647Val) rs779611112 0.00001
NM_000702.4(ATP1A2):c.19C>T (p.Arg7Cys) rs761260548 0.00001
NM_000702.4(ATP1A2):c.2016G>A (p.Ser672=) rs762744089 0.00001
NM_000702.4(ATP1A2):c.2062G>T (p.Ala688Ser) rs200425518 0.00001
NM_000702.4(ATP1A2):c.2120C>A (p.Ala707Asp) rs1391181719 0.00001
NM_000702.4(ATP1A2):c.2266G>A (p.Val756Ile) rs777895941 0.00001
NM_000702.4(ATP1A2):c.248C>T (p.Thr83Ile) rs763362150 0.00001
NM_000702.4(ATP1A2):c.2538C>T (p.Leu846=) rs1385398984 0.00001
NM_000702.4(ATP1A2):c.2636G>A (p.Arg879Gln) rs761597771 0.00001
NM_000702.4(ATP1A2):c.2877G>A (p.Thr959=) rs200127278 0.00001
NM_000702.4(ATP1A2):c.37G>A (p.Ala13Thr) rs753074130 0.00001
NM_000702.4(ATP1A2):c.813C>T (p.Leu271=) rs747740289 0.00001
NM_000702.4(ATP1A2):c.916G>A (p.Val306Met) rs748881406 0.00001
NM_000702.4(ATP1A2):c.1074C>T (p.Asn358=) rs1558005822
NM_000702.4(ATP1A2):c.1091C>T (p.Thr364Met) rs1553244881
NM_000702.4(ATP1A2):c.1127C>T (p.Thr376Met) rs121918620
NM_000702.4(ATP1A2):c.1148G>T (p.Arg383Leu) rs765909830
NM_000702.4(ATP1A2):c.1163A>G (p.His388Arg) rs1651667353
NM_000702.4(ATP1A2):c.1282C>T (p.Arg428Cys) rs779985796
NM_000702.4(ATP1A2):c.1318G>A (p.Val440Met) rs768088341
NM_000702.4(ATP1A2):c.1327C>T (p.Arg443Trp)
NM_000702.4(ATP1A2):c.1453A>T (p.Lys485Ter) rs2101989829
NM_000702.4(ATP1A2):c.1490C>A (p.Pro497His)
NM_000702.4(ATP1A2):c.1500C>A (p.His500Gln)
NM_000702.4(ATP1A2):c.1541G>T (p.Arg514Leu) rs748654627
NM_000702.4(ATP1A2):c.1631G>A (p.Gly544Glu)
NM_000702.4(ATP1A2):c.163G>T (p.Val55Leu) rs2524849497
NM_000702.4(ATP1A2):c.1730C>T (p.Thr577Met) rs747886840
NM_000702.4(ATP1A2):c.1737G>T (p.Lys579Asn) rs2524873421
NM_000702.4(ATP1A2):c.1777C>T (p.Arg593Trp) rs886039530
NM_000702.4(ATP1A2):c.1778G>A (p.Arg593Gln) rs1553245178
NM_000702.4(ATP1A2):c.1798G>A (p.Val600Met) rs2524873583
NM_000702.4(ATP1A2):c.1928C>G (p.Ala643Gly) rs763782107
NM_000702.4(ATP1A2):c.1963A>G (p.Arg655Gly) rs2524884507
NM_000702.4(ATP1A2):c.2008A>G (p.Met670Val) rs1184210055
NM_000702.4(ATP1A2):c.2131G>A (p.Val711Met) rs1282248061
NM_000702.4(ATP1A2):c.2284G>A (p.Gly762Ser) rs1553245780
NM_000702.4(ATP1A2):c.2439+5G>A rs1651923862
NM_000702.4(ATP1A2):c.2662G>T (p.Asp888Tyr) rs2524891184
NM_000702.4(ATP1A2):c.2750C>T (p.Thr917Met) rs747016236
NM_000702.4(ATP1A2):c.2774T>C (p.Val925Ala) rs1651973840
NM_000702.4(ATP1A2):c.2810G>A (p.Arg937His) rs1553245943
NM_000702.4(ATP1A2):c.2879C>T (p.Ala960Val) rs867252510
NM_000702.4(ATP1A2):c.2890T>C (p.Phe964Leu) rs1652071501
NM_000702.4(ATP1A2):c.2926C>A (p.Arg976Ser) rs371742379
NM_000702.4(ATP1A2):c.2942+4_2942+7del
NM_000702.4(ATP1A2):c.2944G>C (p.Val982Leu) rs772872949
NM_000702.4(ATP1A2):c.3004C>G (p.Arg1002Gly) rs1480634394
NM_000702.4(ATP1A2):c.332T>C (p.Leu111Pro) rs2524854281
NM_000702.4(ATP1A2):c.376G>A (p.Asp126Asn) rs1335368737
NM_000702.4(ATP1A2):c.433T>C (p.Ser145Pro) rs2101985906
NM_000702.4(ATP1A2):c.475T>A (p.Phe159Ile) rs2524856436
NM_000702.4(ATP1A2):c.756C>A (p.Ala252=) rs2524865093
NM_000702.4(ATP1A2):c.847G>A (p.Ala283Thr) rs2524865283
NM_000702.4(ATP1A2):c.879C>G (p.Ile293Met) rs1553244746
NM_000702.4(ATP1A2):c.904G>A (p.Val302Ile) rs1558005370
NM_000702.4(ATP1A2):c.910TTC[1] (p.Phe305del) rs2524865483
NM_000702.4(ATP1A2):c.988G>A (p.Val330Met) rs1236883845

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