ClinVar Miner

List of variants in gene ATP1A2 reported as benign for developmental and epileptic encephalopathy 98

Included ClinVar conditions (2):
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Gene type:
ClinVar version:
Total variants: 64
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HGVS dbSNP gnomAD frequency
NM_000702.4(ATP1A2):c.13-22T>C rs2854246 0.99954
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 0.81329
NM_000702.4(ATP1A2):c.495+81T>A rs2854248 0.39961
NM_000702.4(ATP1A2):c.*1026A>G rs2070704 0.21697
NM_000702.4(ATP1A2):c.*1095T>A rs56199408 0.21686
NM_000702.4(ATP1A2):c.*746C>T rs62620182 0.21625
NM_000702.4(ATP1A2):c.*748C>T rs2070703 0.21623
NM_000702.4(ATP1A2):c.1119G>A (p.Ser373=) rs1063125 0.18359
NM_000702.4(ATP1A2):c.495+96G>A rs17846707 0.15041
NM_000702.4(ATP1A2):c.2943-47C>G rs17846717 0.13239
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.2709+26G>A rs12083034 0.10249
NM_000702.4(ATP1A2):c.177+95T>C rs17846705 0.09326
NM_000702.4(ATP1A2):c.2259C>T (p.Ala753=) rs17846715 0.09246
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 0.03344
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.*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 0.00654
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.178-21C>T rs199660548 0.00076
NM_000702.4(ATP1A2):c.340G>A (p.Gly114Ser) rs116711766 0.00071
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.2130C>T (p.Ala710=) rs374749325 0.00021
NM_000702.4(ATP1A2):c.1652-18C>A rs372842016 0.00016
NM_000702.4(ATP1A2):c.*15G>A rs187737212 0.00007
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.1317C>T (p.Ser439=) rs759939624 0.00004
NM_000702.4(ATP1A2):c.969C>T (p.Ile323=) rs28716941 0.00004
NM_000702.4(ATP1A2):c.1128G>A (p.Thr376=) rs374374188 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.1572G>A (p.Glu524=) rs775192056 0.00002
NM_000702.4(ATP1A2):c.2877G>A (p.Thr959=) rs200127278 0.00001
NM_000702.4(ATP1A2):c.1104G>A (p.Thr368=) rs138766432
NM_000702.4(ATP1A2):c.1203C>T (p.Thr401=) rs547954866
NM_000702.4(ATP1A2):c.13-11_13-8del rs373796693
NM_000702.4(ATP1A2):c.1326+8del rs763762298
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.246C>G (p.Pro82=) rs537472446
NM_000702.4(ATP1A2):c.2564-8A>G rs554846350
NM_000702.4(ATP1A2):c.2841-20dup rs397775888
NM_000702.4(ATP1A2):c.3034+61G>A rs55884181
NM_000702.4(ATP1A2):c.471T>C (p.Asp157=) rs553035942

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