ClinVar Miner

List of variants in gene ATP1A2 reported as benign by GeneDx

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Gene type:
ClinVar version:
Total variants: 90
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HGVS dbSNP gnomAD frequency
NM_000702.3(ATP1A2):c.-371A>T rs1570096 0.99962
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.12+205A>C rs2854244 0.53020
NM_000702.4(ATP1A2):c.495+81T>A rs2854248 0.39961
NM_000702.4(ATP1A2):c.12+292A>C rs2070700 0.32719
NM_000702.4(ATP1A2):c.748+246dup rs35015303 0.30329
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.177+305G>A rs58313172 0.16873
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.1965-214A>C rs72706621 0.08627
NM_000702.4(ATP1A2):c.749-27C>A rs2295623 0.08226
NM_000702.4(ATP1A2):c.1828-300C>T rs55789908 0.07590
NM_000702.4(ATP1A2):c.3035-272C>T rs113857348 0.03916
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.3035-168A>G rs142189936 0.02757
NM_000702.4(ATP1A2):c.3035-143C>T rs115459521 0.02755
NM_000702.4(ATP1A2):c.3035-152A>G rs116347119 0.02755
NM_000702.4(ATP1A2):c.3035-185A>G rs115994216 0.02755
NM_000702.4(ATP1A2):c.3035-277T>C rs114539436 0.02752
NM_000702.4(ATP1A2):c.3035-196A>G rs116552228 0.02750
NM_000702.4(ATP1A2):c.2285-86T>C rs59070876 0.02472
NM_000702.4(ATP1A2):c.2285-47G>A rs61435997 0.02469
NM_000702.4(ATP1A2):c.382-41G>T rs41265765 0.02463
NM_000702.4(ATP1A2):c.2709+43C>T rs116629683 0.02382
NM_000702.4(ATP1A2):c.2841-243A>G rs114932477 0.02252
NM_000702.4(ATP1A2):c.1980C>T (p.Cys660=) rs61734529 0.02220
NM_000702.4(ATP1A2):c.2840+176C>T rs58392118 0.01935
NM_000702.4(ATP1A2):c.13-237T>G rs7532556 0.01674
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.-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.1470C>T (p.Ile490=) rs111405592 0.00048
NM_000702.4(ATP1A2):c.339C>T (p.Tyr113=) rs148929192 0.00023
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.2514G>A (p.Thr838=) rs140646289 0.00006
NM_000702.4(ATP1A2):c.1317C>T (p.Ser439=) rs759939624 0.00004
NM_000702.4(ATP1A2):c.1128G>A (p.Thr376=) rs374374188 0.00003
NM_000702.4(ATP1A2):c.2439+6C>T rs374355050 0.00003
NM_000702.4(ATP1A2):c.2937G>T (p.Pro979=) rs201879002 0.00003
NM_000702.4(ATP1A2):c.2877G>A (p.Thr959=) rs200127278 0.00001
NM_000702.4(ATP1A2):c.3034+6C>A rs574788908 0.00001
NM_000702.4(ATP1A2):c.*9GAA[2] rs796052274
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.1216+5T>C rs780155641
NM_000702.4(ATP1A2):c.1216+5T>G rs780155641
NM_000702.4(ATP1A2):c.13-11T>C rs72633673
NM_000702.4(ATP1A2):c.13-11_13-8del rs373796693
NM_000702.4(ATP1A2):c.13-13del rs796052275
NM_000702.4(ATP1A2):c.13-15_13-12del rs1184627670
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.1828-248CA[10] rs146388527
NM_000702.4(ATP1A2):c.1828-248CA[11] rs146388527
NM_000702.4(ATP1A2):c.1828-248CA[12] rs146388527
NM_000702.4(ATP1A2):c.1828-248CA[8] rs146388527
NM_000702.4(ATP1A2):c.1828-269CA[4] rs146357011
NM_000702.4(ATP1A2):c.1964+39A>C rs16831402
NM_000702.4(ATP1A2):c.246C>G (p.Pro82=) rs537472446
NM_000702.4(ATP1A2):c.2841-20dup rs397775888
NM_000702.4(ATP1A2):c.3034+61G>A rs55884181

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