ClinVar Miner

List of variants in gene ATP1A2 studied for Developmental and epileptic encephalopathy 98

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Total variants: 82
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HGVS dbSNP gnomAD frequency
NM_000702.4(ATP1A2):c.13-22T>C rs2854246 0.99960
NM_000702.4(ATP1A2):c.495+65T>C rs2820582 0.96234
NM_000702.4(ATP1A2):c.381+16C>T rs2820581 0.95274
NM_000702.4(ATP1A2):c.1017+56G>A rs6695366 0.84545
NM_000702.4(ATP1A2):c.1326+49dup rs5778151 0.81238
NM_000702.4(ATP1A2):c.495+81T>A rs2854248 0.39961
NM_000702.4(ATP1A2):c.*1026A>G rs2070704 0.21701
NM_000702.4(ATP1A2):c.*1095T>A rs56199408 0.21691
NM_000702.4(ATP1A2):c.*748C>T rs2070703 0.21637
NM_000702.4(ATP1A2):c.*746C>T rs62620182 0.21625
NM_000702.4(ATP1A2):c.1119G>A (p.Ser373=) rs1063125 0.18737
NM_000702.4(ATP1A2):c.495+96G>A rs17846707 0.15041
NM_000702.4(ATP1A2):c.2943-27G>C rs17846718 0.13234
NM_000702.4(ATP1A2):c.3034+14C>T rs41288127 0.13198
NM_000702.4(ATP1A2):c.2943-47C>G rs17846717 0.13047
NM_000702.4(ATP1A2):c.2709+26G>A rs12083034 0.09868
NM_000702.4(ATP1A2):c.177+95T>C rs17846705 0.09320
NM_000702.4(ATP1A2):c.2259C>T (p.Ala753=) rs17846715 0.09239
NM_000702.4(ATP1A2):c.382-85G>A rs41265763 0.09102
NM_000702.4(ATP1A2):c.1704C>T (p.Phe568=) rs17846714 0.03612
NM_000702.4(ATP1A2):c.1652-11C>G rs17846713 0.03261
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.*703G>A rs57902482 0.01488
NM_000702.4(ATP1A2):c.129G>A (p.Lys43=) rs61734527 0.00766
NM_000702.4(ATP1A2):c.*72G>A rs2070701 0.00728
NM_000702.4(ATP1A2):c.-48C>G rs41265761 0.00401
NM_000702.4(ATP1A2):c.2943-15C>T rs111510835 0.00344
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.2115+14C>T rs200854586 0.00168
NM_000702.4(ATP1A2):c.2284+18G>T rs369835706 0.00092
NM_000702.4(ATP1A2):c.2563+4C>T rs3747626 0.00088
NM_000702.4(ATP1A2):c.2709+11C>T rs115441094 0.00077
NM_000702.4(ATP1A2):c.178-21C>T rs199660548 0.00076
NM_000702.4(ATP1A2):c.340G>A (p.Gly114Ser) rs116711766 0.00075
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.2130C>T (p.Ala710=) rs374749325 0.00021
NM_000702.4(ATP1A2):c.*15G>A rs187737212 0.00019
NM_000702.4(ATP1A2):c.194G>T (p.Arg65Leu) rs187733403 0.00019
NM_000702.4(ATP1A2):c.1652-18C>A rs372842016 0.00015
NM_000702.4(ATP1A2):c.2564-8A>G rs554846350 0.00009
NM_000702.4(ATP1A2):c.2142C>T (p.Asp714=) rs139022921 0.00007
NM_000702.4(ATP1A2):c.1761T>C (p.Ser587=) rs199621678 0.00006
NM_000702.4(ATP1A2):c.2514G>A (p.Thr838=) rs140646289 0.00006
NM_000702.4(ATP1A2):c.969C>T (p.Ile323=) rs28716941 0.00005
NM_000702.4(ATP1A2):c.1128G>A (p.Thr376=) rs374374188 0.00003
NM_000702.4(ATP1A2):c.1317C>T (p.Ser439=) rs759939624 0.00003
NM_000702.4(ATP1A2):c.2116-14C>T rs748188822 0.00003
NM_000702.4(ATP1A2):c.2937G>T (p.Pro979=) rs201879002 0.00003
NM_000702.4(ATP1A2):c.1203C>T (p.Thr401=) rs547954866 0.00002
NM_000702.4(ATP1A2):c.1572G>A (p.Glu524=) rs775192056 0.00001
NM_000702.4(ATP1A2):c.2877G>A (p.Thr959=) rs200127278 0.00001
NM_000702.4(ATP1A2):c.889G>A (p.Ala297Thr) rs181618883 0.00001
NM_000702.4(ATP1A2):c.1021T>C (p.Cys341Arg) rs2524867724
NM_000702.4(ATP1A2):c.1022G>A (p.Cys341Tyr) rs1057521630
NM_000702.4(ATP1A2):c.1022G>T (p.Cys341Phe) rs1057521630
NM_000702.4(ATP1A2):c.1096G>A (p.Gly366Ser) rs1553244883
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.13-11_13-8del rs373796693
NM_000702.4(ATP1A2):c.1326+8del rs763762298
NM_000702.4(ATP1A2):c.1408_1409del (p.Asp470fs) rs2524869940
NM_000702.4(ATP1A2):c.1547C>T (p.Ser516Phe)
NM_000702.4(ATP1A2):c.160C>A (p.Gln54Lys) rs2524849489
NM_000702.4(ATP1A2):c.1643G>A (p.Arg548His) rs121918616
NM_000702.4(ATP1A2):c.1651+49C>T rs57074721
NM_000702.4(ATP1A2):c.1652-7C>A rs200102433
NM_000702.4(ATP1A2):c.1652-7C>G rs200102433
NM_000702.4(ATP1A2):c.2092A>G (p.Ile698Val)
NM_000702.4(ATP1A2):c.215G>A (p.Arg72Gln) rs779812635
NM_000702.4(ATP1A2):c.2387C>T (p.Pro796Leu) rs1651922528
NM_000702.4(ATP1A2):c.2438T>A (p.Met813Lys) rs796052277
NM_000702.4(ATP1A2):c.2723G>A (p.Arg908Gln) rs2101996488
NM_000702.4(ATP1A2):c.2841-20dup rs397775888
NM_000702.4(ATP1A2):c.2942+7G>C rs1453969483
NM_000702.4(ATP1A2):c.3034+61G>A rs55884181
NM_000702.4(ATP1A2):c.471T>C (p.Asp157=) rs553035942
NM_000702.4(ATP1A2):c.788C>T (p.Thr263Met) rs777400961

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