ClinVar Miner

List of variants in gene ATP1A2 studied for not specified

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Total variants: 112
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HGVS dbSNP gnomAD frequency
NM_000702.4(ATP1A2):c.381+16C>T rs2820581 0.95274
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.2259C>T (p.Ala753=) rs17846715 0.09246
NM_000702.4(ATP1A2):c.1704C>T (p.Phe568=) rs17846714 0.03612
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.1980C>T (p.Cys660=) rs61734529 0.02220
NM_000702.4(ATP1A2):c.129G>A (p.Lys43=) rs61734527 0.00766
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.1125G>A (p.Lys375=) rs61734526 0.00323
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.2284+18G>T rs369835706 0.00092
NM_000702.4(ATP1A2):c.2709+11C>T rs115441094 0.00083
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.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 0.00048
NM_000702.4(ATP1A2):c.339C>T (p.Tyr113=) rs148929192 0.00023
NM_000702.4(ATP1A2):c.1964+14A>G rs201131020 0.00022
NM_000702.4(ATP1A2):c.2130C>T (p.Ala710=) rs374749325 0.00021
NM_000702.4(ATP1A2):c.1652-18C>A rs372842016 0.00016
NM_000702.4(ATP1A2):c.1092G>A (p.Thr364=) rs55741021 0.00015
NM_000702.4(ATP1A2):c.381+12C>T rs368856029 0.00014
NM_000702.4(ATP1A2):c.8G>A (p.Arg3His) rs781687346 0.00011
NM_000702.4(ATP1A2):c.2440-14C>T rs200630442 0.00010
NM_000702.4(ATP1A2):c.2142C>T (p.Asp714=) rs139022921 0.00007
NM_000702.4(ATP1A2):c.-14C>G rs756960901 0.00006
NM_000702.4(ATP1A2):c.-31C>G rs192111085 0.00006
NM_000702.4(ATP1A2):c.1368G>A (p.Lys456=) rs369226331 0.00006
NM_000702.4(ATP1A2):c.152G>A (p.Arg51His) rs144106169 0.00006
NM_000702.4(ATP1A2):c.2514G>A (p.Thr838=) rs140646289 0.00006
NM_000702.4(ATP1A2):c.2115+15G>A rs769939965 0.00005
NM_000702.4(ATP1A2):c.1317C>T (p.Ser439=) rs759939624 0.00004
NM_000702.4(ATP1A2):c.2562C>T (p.Ile854=) rs371086182 0.00004
NM_000702.4(ATP1A2):c.1128G>A (p.Thr376=) rs374374188 0.00003
NM_000702.4(ATP1A2):c.2103A>T (p.Gly701=) rs963491650 0.00003
NM_000702.4(ATP1A2):c.2116-14C>T rs748188822 0.00003
NM_000702.4(ATP1A2):c.2136G>A (p.Thr712=) rs760213030 0.00003
NM_000702.4(ATP1A2):c.2439+13G>A rs1038003940 0.00003
NM_000702.4(ATP1A2):c.2439+6C>T rs374355050 0.00003
NM_000702.4(ATP1A2):c.2710-19C>G rs757662486 0.00003
NM_000702.4(ATP1A2):c.2937G>T (p.Pro979=) rs201879002 0.00003
NM_000702.4(ATP1A2):c.2942+19C>T rs187187416 0.00003
NM_000702.4(ATP1A2):c.1815C>T (p.Ser605=) rs771651622 0.00002
NM_000702.4(ATP1A2):c.2115+19G>A rs375635569 0.00002
NM_000702.4(ATP1A2):c.2876C>T (p.Thr959Met) rs1226796744 0.00002
NM_000702.4(ATP1A2):c.2942+16G>A rs776114360 0.00002
NM_000702.4(ATP1A2):c.789G>A (p.Thr263=) rs748890267 0.00002
NM_000702.4(ATP1A2):c.1110C>T (p.Thr370=) rs747219922 0.00001
NM_000702.4(ATP1A2):c.1158C>T (p.Val386=) rs752381925 0.00001
NM_000702.4(ATP1A2):c.1216+12C>T rs748392461 0.00001
NM_000702.4(ATP1A2):c.1327-12C>G rs903572955 0.00001
NM_000702.4(ATP1A2):c.1473C>T (p.His491=) rs768902765 0.00001
NM_000702.4(ATP1A2):c.1590G>A (p.Glu530=) rs1042062045 0.00001
NM_000702.4(ATP1A2):c.2015C>T (p.Ser672Leu) rs145701604 0.00001
NM_000702.4(ATP1A2):c.2016G>A (p.Ser672=) rs762744089 0.00001
NM_000702.4(ATP1A2):c.2427G>A (p.Leu809=) rs369916877 0.00001
NM_000702.4(ATP1A2):c.2709+17A>G rs961165805 0.00001
NM_000702.4(ATP1A2):c.2877G>A (p.Thr959=) rs200127278 0.00001
NM_000702.4(ATP1A2):c.2895C>G (p.Leu965=) rs200706103 0.00001
NM_000702.4(ATP1A2):c.291G>T (p.Gly97=) rs759566498 0.00001
NM_000702.4(ATP1A2):c.3034+6C>A rs574788908 0.00001
NM_000702.4(ATP1A2):c.495+9G>T rs1057522630 0.00001
NM_000702.4(ATP1A2):c.813C>T (p.Leu271=) rs747740289 0.00001
NM_000702.4(ATP1A2):c.*9GAA[2] rs796052274
NM_000702.4(ATP1A2):c.-30G>A rs759542448
NM_000702.4(ATP1A2):c.-33C>A rs1323771499
NM_000702.4(ATP1A2):c.1017+9G>T rs1057521623
NM_000702.4(ATP1A2):c.1018-15_1018-13del rs1064795923
NM_000702.4(ATP1A2):c.108G>A (p.Glu36=) rs1553244021
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.1118C>G (p.Ser373Trp)
NM_000702.4(ATP1A2):c.1133C>T (p.Thr378Ile) rs28934002
NM_000702.4(ATP1A2):c.1155C>A (p.Thr385=) rs759207376
NM_000702.4(ATP1A2):c.1182A>G (p.Gln394=) rs1553244893
NM_000702.4(ATP1A2):c.1216+5T>G rs780155641
NM_000702.4(ATP1A2):c.1263A>G (p.Arg421=) rs1057523616
NM_000702.4(ATP1A2):c.13-11_13-8del rs373796693
NM_000702.4(ATP1A2):c.13-13del rs796052275
NM_000702.4(ATP1A2):c.1311C>T (p.Asn437=) rs1057521266
NM_000702.4(ATP1A2):c.1326+8del rs763762298
NM_000702.4(ATP1A2):c.1462-5T>A rs796052272
NM_000702.4(ATP1A2):c.1647G>T (p.Val549=) rs1553245135
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.1740T>G (p.Leu580=) rs978157409
NM_000702.4(ATP1A2):c.1769A>T (p.Asp590Val) rs1570990507
NM_000702.4(ATP1A2):c.177+20G>C rs1475100565
NM_000702.4(ATP1A2):c.1962C>G (p.Pro654=) rs1057523083
NM_000702.4(ATP1A2):c.2148G>A (p.Val716=) rs1057523552
NM_000702.4(ATP1A2):c.2284G>A (p.Gly762Ser) rs1553245780
NM_000702.4(ATP1A2):c.246C>G (p.Pro82=) rs537472446
NM_000702.4(ATP1A2):c.255T>G (p.Pro85=)
NM_000702.4(ATP1A2):c.2563+17G>A rs1553245863
NM_000702.4(ATP1A2):c.2564-8A>G rs554846350
NM_000702.4(ATP1A2):c.2589C>T (p.Phe863=) rs760872961
NM_000702.4(ATP1A2):c.2841-20dup rs397775888
NM_000702.4(ATP1A2):c.2841-7C>T rs1057521032
NM_000702.4(ATP1A2):c.3031G>T (p.Gly1011Cys) rs1553246149
NM_000702.4(ATP1A2):c.319A>G (p.Ile107Val) rs2101985456
NM_000702.4(ATP1A2):c.37G>A (p.Ala13Thr) rs753074130
NM_000702.4(ATP1A2):c.381+13G>T rs772082739
NM_000702.4(ATP1A2):c.471T>C (p.Asp157=) rs553035942
NM_000702.4(ATP1A2):c.839C>T (p.Thr280Ile) rs1553244736

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