ClinVar Miner

List of variants in gene ATP1A2 reported as uncertain significance by GeneDx

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Total variants: 115
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HGVS dbSNP gnomAD frequency
NM_000702.4(ATP1A2):c.1474G>A (p.Glu492Lys) rs142348542 0.00055
NM_000702.4(ATP1A2):c.862C>T (p.His288Tyr) rs754699681 0.00022
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.1262G>A (p.Arg421Gln) rs139499540 0.00014
NM_000702.4(ATP1A2):c.1582G>A (p.Asp528Asn) rs374501280 0.00009
NM_000702.4(ATP1A2):c.152G>A (p.Arg51His) rs144106169 0.00006
NM_000702.4(ATP1A2):c.1821C>T (p.Gly607=) rs771085157 0.00006
NM_000702.4(ATP1A2):c.193C>T (p.Arg65Trp) rs121918619 0.00006
NM_000702.4(ATP1A2):c.2374A>G (p.Ile792Val) rs758749177 0.00005
NM_000702.4(ATP1A2):c.205G>A (p.Val69Ile) rs558323868 0.00004
NM_000702.4(ATP1A2):c.1156G>A (p.Val386Ile) rs137878081 0.00003
NM_000702.4(ATP1A2):c.1541G>A (p.Arg514Gln) rs748654627 0.00003
NM_000702.4(ATP1A2):c.1691G>A (p.Arg564Gln) rs765936799 0.00003
NM_000702.4(ATP1A2):c.1891A>G (p.Ile631Val) rs201977531 0.00003
NM_000702.4(ATP1A2):c.2271G>A (p.Thr757=) rs202094576 0.00003
NM_000702.4(ATP1A2):c.3023G>A (p.Arg1008Gln) rs781023681 0.00003
NM_000702.4(ATP1A2):c.56G>T (p.Gly19Val) rs757373744 0.00003
NM_000702.4(ATP1A2):c.1410C>G (p.Asp470Glu) rs533400580 0.00002
NM_000702.4(ATP1A2):c.151C>T (p.Arg51Cys) rs747283283 0.00002
NM_000702.4(ATP1A2):c.275G>A (p.Arg92His) rs774275559 0.00002
NM_000702.4(ATP1A2):c.2876C>T (p.Thr959Met) rs1226796744 0.00002
NM_000702.4(ATP1A2):c.1042C>T (p.Arg348Cys) rs765818392 0.00001
NM_000702.4(ATP1A2):c.1282C>T (p.Arg428Cys) rs779985796 0.00001
NM_000702.4(ATP1A2):c.1283G>A (p.Arg428His) rs746478136 0.00001
NM_000702.4(ATP1A2):c.1318G>T (p.Val440Leu) rs768088341 0.00001
NM_000702.4(ATP1A2):c.1540C>T (p.Arg514Trp) rs781474239 0.00001
NM_000702.4(ATP1A2):c.1550C>A (p.Thr517Asn) rs749326394 0.00001
NM_000702.4(ATP1A2):c.1661A>T (p.Gln554Leu) rs199749129 0.00001
NM_000702.4(ATP1A2):c.1690C>T (p.Arg564Trp) rs762330744 0.00001
NM_000702.4(ATP1A2):c.1694G>A (p.Gly565Asp) rs759225094 0.00001
NM_000702.4(ATP1A2):c.192G>T (p.Gln64His) rs796052282 0.00001
NM_000702.4(ATP1A2):c.1990G>A (p.Gly664Ser) rs1483366741 0.00001
NM_000702.4(ATP1A2):c.20G>A (p.Arg7His) rs764755889 0.00001
NM_000702.4(ATP1A2):c.2115+16G>T rs1426409869 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.2280G>T (p.Glu760Asp) rs916068745 0.00001
NM_000702.4(ATP1A2):c.274C>T (p.Arg92Cys) rs796052278 0.00001
NM_000702.4(ATP1A2):c.2840+5G>A rs1254965849 0.00001
NM_000702.4(ATP1A2):c.2887G>A (p.Ala963Thr) rs1057523245 0.00001
NM_000702.4(ATP1A2):c.2969C>T (p.Pro990Leu) rs775974337 0.00001
NM_000702.4(ATP1A2):c.29C>T (p.Ser10Leu) rs762611119 0.00001
NM_000702.4(ATP1A2):c.311T>C (p.Ile104Thr) rs760901258 0.00001
NM_000702.4(ATP1A2):c.814G>A (p.Ala272Thr) rs369898494 0.00001
NM_000702.4(ATP1A2):c.1097G>C (p.Gly366Ala) rs1057518514
NM_000702.4(ATP1A2):c.1106C>A (p.Ser369Tyr) rs2101989167
NM_000702.4(ATP1A2):c.1133C>T (p.Thr378Ile) rs28934002
NM_000702.4(ATP1A2):c.1167G>T (p.Met389Ile) rs1651667488
NM_000702.4(ATP1A2):c.1174G>A (p.Asp392Asn)
NM_000702.4(ATP1A2):c.1235G>A (p.Arg412Gln) rs765021457
NM_000702.4(ATP1A2):c.1253C>T (p.Ala418Val)
NM_000702.4(ATP1A2):c.1279A>C (p.Asn427His)
NM_000702.4(ATP1A2):c.128A>G (p.Lys43Arg) rs796052281
NM_000702.4(ATP1A2):c.1318G>A (p.Val440Met) rs768088341
NM_000702.4(ATP1A2):c.1334C>T (p.Thr445Ile) rs2101989727
NM_000702.4(ATP1A2):c.1363C>A (p.Leu455Ile) rs1490998665
NM_000702.4(ATP1A2):c.1369T>C (p.Cys457Arg) rs758127903
NM_000702.4(ATP1A2):c.1432A>G (p.Ile478Val) rs1553245013
NM_000702.4(ATP1A2):c.1433T>C (p.Ile478Thr) rs2101989816
NM_000702.4(ATP1A2):c.1507G>C (p.Val503Leu) rs2101990393
NM_000702.4(ATP1A2):c.152G>T (p.Arg51Leu) rs144106169
NM_000702.4(ATP1A2):c.1568A>T (p.Lys523Met)
NM_000702.4(ATP1A2):c.1651G>C (p.Gly551Arg) rs746744495
NM_000702.4(ATP1A2):c.1714G>A (p.Glu572Lys) rs1553245166
NM_000702.4(ATP1A2):c.1727C>T (p.Pro576Leu) rs781581015
NM_000702.4(ATP1A2):c.1730C>A (p.Thr577Lys) rs747886840
NM_000702.4(ATP1A2):c.1859C>G (p.Thr620Arg) rs1057521886
NM_000702.4(ATP1A2):c.1885G>A (p.Gly629Ser) rs920199278
NM_000702.4(ATP1A2):c.1888A>G (p.Ile630Val) rs1382260409
NM_000702.4(ATP1A2):c.1916A>C (p.Glu639Ala)
NM_000702.4(ATP1A2):c.1933C>T (p.Leu645Phe)
NM_000702.4(ATP1A2):c.1981G>C (p.Val661Leu)
NM_000702.4(ATP1A2):c.2116G>A (p.Gly706Arg)
NM_000702.4(ATP1A2):c.2128G>A (p.Ala710Thr) rs1553245764
NM_000702.4(ATP1A2):c.2142C>G (p.Asp714Glu) rs139022921
NM_000702.4(ATP1A2):c.2230G>A (p.Asp744Asn) rs1131691922
NM_000702.4(ATP1A2):c.2254T>A (p.Phe752Ile)
NM_000702.4(ATP1A2):c.2256T>A (p.Phe752Leu) rs2101995172
NM_000702.4(ATP1A2):c.2260T>C (p.Ser754Pro) rs2101995180
NM_000702.4(ATP1A2):c.2275G>A (p.Val759Met)
NM_000702.4(ATP1A2):c.2276T>C (p.Val759Ala) rs2101995205
NM_000702.4(ATP1A2):c.2287C>T (p.Arg763Cys) rs2101995435
NM_000702.4(ATP1A2):c.2301C>A (p.Asp767Glu) rs2101995459
NM_000702.4(ATP1A2):c.2323T>G (p.Tyr775Asp) rs2101995474
NM_000702.4(ATP1A2):c.2462A>G (p.Tyr821Cys)
NM_000702.4(ATP1A2):c.2491C>T (p.Arg831Trp) rs1570995030
NM_000702.4(ATP1A2):c.2517C>G (p.Asp839Glu) rs752471668
NM_000702.4(ATP1A2):c.2554G>C (p.Gly852Arg) rs1553245853
NM_000702.4(ATP1A2):c.2568G>A (p.Met856Ile) rs2101996120
NM_000702.4(ATP1A2):c.259T>C (p.Trp87Arg) rs2101985426
NM_000702.4(ATP1A2):c.2668C>T (p.Arg890Trp) rs1651962434
NM_000702.4(ATP1A2):c.2669G>A (p.Arg890Gln) rs868485498
NM_000702.4(ATP1A2):c.2707T>C (p.Trp903Arg) rs2101996239
NM_000702.4(ATP1A2):c.2722C>T (p.Arg908Trp) rs758772895
NM_000702.4(ATP1A2):c.2770G>A (p.Val924Met) rs373276446
NM_000702.4(ATP1A2):c.2809C>T (p.Arg937Cys) rs1558009266
NM_000702.4(ATP1A2):c.280C>A (p.Leu94Ile) rs950102855
NM_000702.4(ATP1A2):c.280C>T (p.Leu94Phe) rs950102855
NM_000702.4(ATP1A2):c.2816A>G (p.Asn939Ser) rs2101996579
NM_000702.4(ATP1A2):c.2850C>G (p.Ile950Met) rs1553246129
NM_000702.4(ATP1A2):c.2852T>A (p.Leu951Gln)
NM_000702.4(ATP1A2):c.2890T>C (p.Phe964Leu) rs1652071501
NM_000702.4(ATP1A2):c.2948C>T (p.Thr983Ile)
NM_000702.4(ATP1A2):c.2993A>G (p.Tyr998Cys) rs1085307501
NM_000702.4(ATP1A2):c.3019C>T (p.Arg1007Trp)
NM_000702.4(ATP1A2):c.3020G>A (p.Arg1007Gln)
NM_000702.4(ATP1A2):c.3022C>T (p.Arg1008Trp)
NM_000702.4(ATP1A2):c.368C>A (p.Pro123Gln)
NM_000702.4(ATP1A2):c.37G>A (p.Ala13Thr) rs753074130
NM_000702.4(ATP1A2):c.481A>G (p.Asn161Asp) rs796052279
NM_000702.4(ATP1A2):c.59G>A (p.Gly20Asp) rs1437032305
NM_000702.4(ATP1A2):c.799C>T (p.Arg267Cys) rs1399834873
NM_000702.4(ATP1A2):c.848C>T (p.Ala283Val) rs1553244740
NM_000702.4(ATP1A2):c.982G>A (p.Ala328Thr) rs1064796371

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