ClinVar Miner

List of variants reported as uncertain significance for familial hemiplegic migraine by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (21):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 396
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HGVS dbSNP gnomAD frequency
NM_000702.4(ATP1A2):c.862C>T (p.His288Tyr) rs754699681 0.00022
NM_000702.4(ATP1A2):c.8G>A (p.Arg3His) rs781687346 0.00011
NM_000702.4(ATP1A2):c.1582G>A (p.Asp528Asn) rs374501280 0.00009
NM_000702.4(ATP1A2):c.381T>C (p.Asn127=) rs139243866 0.00007
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.3014T>C (p.Ile1005Thr) rs369228503 0.00006
NM_000702.4(ATP1A2):c.1461+5G>A rs199906945 0.00005
NM_000702.4(ATP1A2):c.2374A>G (p.Ile792Val) rs758749177 0.00005
NM_000702.4(ATP1A2):c.1529G>A (p.Arg510His) rs755353911 0.00004
NM_000702.4(ATP1A2):c.1961C>A (p.Pro654His) rs886164050 0.00004
NM_000702.4(ATP1A2):c.205G>A (p.Val69Ile) rs558323868 0.00004
NM_000702.4(ATP1A2):c.2562C>T (p.Ile854=) rs371086182 0.00004
NM_000702.4(ATP1A2):c.2563+5G>A rs763626030 0.00004
NM_000702.4(ATP1A2):c.44C>T (p.Thr15Met) rs371257019 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.2439+6C>T rs374355050 0.00003
NM_000702.4(ATP1A2):c.3023G>A (p.Arg1008Gln) rs781023681 0.00003
NM_000702.4(ATP1A2):c.1308G>T (p.Glu436Asp) rs763770380 0.00002
NM_000702.4(ATP1A2):c.1410C>G (p.Asp470Glu) rs533400580 0.00002
NM_000702.4(ATP1A2):c.1478G>A (p.Arg493Gln) rs773318002 0.00002
NM_000702.4(ATP1A2):c.1496G>A (p.Ser499Asn) rs767230468 0.00002
NM_000702.4(ATP1A2):c.1546T>G (p.Ser516Ala) rs778274408 0.00002
NM_000702.4(ATP1A2):c.1650G>C (p.Leu550=) rs775807326 0.00002
NM_000702.4(ATP1A2):c.275G>A (p.Arg92His) rs774275559 0.00002
NM_000702.4(ATP1A2):c.2977C>T (p.Leu993Phe) rs1303848624 0.00002
NM_000702.4(ATP1A2):c.589G>A (p.Val197Ile) rs540087535 0.00002
NM_000702.4(ATP1A2):c.736A>G (p.Asn246Asp) rs764917849 0.00002
NM_000702.4(ATP1A2):c.892G>C (p.Val298Leu) rs757867108 0.00002
NM_000702.4(ATP1A2):c.1017+7G>A rs1438633873 0.00001
NM_000702.4(ATP1A2):c.1043G>A (p.Arg348His) rs912419331 0.00001
NM_000702.4(ATP1A2):c.112G>A (p.Ala38Thr) rs201688946 0.00001
NM_000702.4(ATP1A2):c.117+3G>A rs1333920511 0.00001
NM_000702.4(ATP1A2):c.1244C>T (p.Thr415Met) rs121918618 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.1285G>A (p.Ala429Thr) rs776086125 0.00001
NM_000702.4(ATP1A2):c.1318G>T (p.Val440Leu) rs768088341 0.00001
NM_000702.4(ATP1A2):c.1328G>A (p.Arg443Gln) rs562278306 0.00001
NM_000702.4(ATP1A2):c.1382C>T (p.Ser461Phe) rs751491994 0.00001
NM_000702.4(ATP1A2):c.1426G>A (p.Ala476Thr) rs1325367634 0.00001
NM_000702.4(ATP1A2):c.1427C>T (p.Ala476Val) rs1651695022 0.00001
NM_000702.4(ATP1A2):c.1528C>T (p.Arg510Cys) rs750109401 0.00001
NM_000702.4(ATP1A2):c.1540C>T (p.Arg514Trp) rs781474239 0.00001
NM_000702.4(ATP1A2):c.1574T>C (p.Ile525Thr) rs760642074 0.00001
NM_000702.4(ATP1A2):c.1577C>T (p.Pro526Leu) rs764078366 0.00001
NM_000702.4(ATP1A2):c.1589A>G (p.Glu530Gly) rs201296747 0.00001
NM_000702.4(ATP1A2):c.1661A>T (p.Gln554Leu) rs199749129 0.00001
NM_000702.4(ATP1A2):c.1679G>C (p.Gly560Ala) rs779448658 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.1709C>T (p.Thr570Met) rs758815329 0.00001
NM_000702.4(ATP1A2):c.1828-3T>C rs1651872567 0.00001
NM_000702.4(ATP1A2):c.1861G>A (p.Ala621Thr) rs1342951917 0.00001
NM_000702.4(ATP1A2):c.192G>T (p.Gln64His) rs796052282 0.00001
NM_000702.4(ATP1A2):c.1931G>A (p.Arg644Gln) rs745824475 0.00001
NM_000702.4(ATP1A2):c.1959C>A (p.Asn653Lys) rs768301089 0.00001
NM_000702.4(ATP1A2):c.1990G>A (p.Gly664Ser) rs1483366741 0.00001
NM_000702.4(ATP1A2):c.19C>T (p.Arg7Cys) rs761260548 0.00001
NM_000702.4(ATP1A2):c.2062G>T (p.Ala688Ser) rs200425518 0.00001
NM_000702.4(ATP1A2):c.20G>A (p.Arg7His) rs764755889 0.00001
NM_000702.4(ATP1A2):c.2120C>A (p.Ala707Asp) rs1391181719 0.00001
NM_000702.4(ATP1A2):c.2123T>C (p.Ile708Thr) rs1341609289 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.248C>T (p.Thr83Ile) rs763362150 0.00001
NM_000702.4(ATP1A2):c.254C>T (p.Pro85Leu) rs1300541222 0.00001
NM_000702.4(ATP1A2):c.2656G>A (p.Asp886Asn) rs757896422 0.00001
NM_000702.4(ATP1A2):c.2675T>C (p.Met892Thr) rs794727222 0.00001
NM_000702.4(ATP1A2):c.2709+3G>A rs1409803053 0.00001
NM_000702.4(ATP1A2):c.2711C>G (p.Thr904Ser) rs746371415 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.2926C>T (p.Arg976Cys) rs371742379 0.00001
NM_000702.4(ATP1A2):c.2969C>T (p.Pro990Leu) rs775974337 0.00001
NM_000702.4(ATP1A2):c.3025T>C (p.Tyr1009His) rs747646476 0.00001
NM_000702.4(ATP1A2):c.311T>C (p.Ile104Thr) rs760901258 0.00001
NM_000702.4(ATP1A2):c.381+3G>A rs1651482706 0.00001
NM_000702.4(ATP1A2):c.487G>A (p.Val163Ile) rs780646849 0.00001
NM_000702.4(ATP1A2):c.529C>A (p.Gln177Lys) rs372536727 0.00001
NM_000702.4(ATP1A2):c.586C>T (p.Arg196Cys) rs753517155 0.00001
NM_000702.4(ATP1A2):c.673C>T (p.Arg225Cys) rs757623691 0.00001
NM_000702.4(ATP1A2):c.748+3G>A rs767929498 0.00001
NM_000702.4(ATP1A2):c.758G>A (p.Arg253Lys) rs1429465691 0.00001
NM_000702.4(ATP1A2):c.764T>C (p.Ile255Thr) rs148666791 0.00001
NM_000702.4(ATP1A2):c.785G>A (p.Arg262Gln) rs769129830 0.00001
NM_000702.4(ATP1A2):c.7C>T (p.Arg3Cys) rs755450946 0.00001
NM_000702.4(ATP1A2):c.916G>A (p.Val306Met) rs748881406 0.00001
NC_000001.10:g.(?_160011163)_(160111132_?)dup
NC_000001.10:g.(?_160085652)_(160085683_?)dup
NC_000001.10:g.(?_160090676)_(160327063_?)dup
NC_000001.10:g.(?_160094906)_(160097630_?)del
NC_000001.10:g.(?_160104264)_(160111112_?)del
NM_000702.4(ATP1A2):c.1017+3G>A rs554196702
NM_000702.4(ATP1A2):c.1028C>T (p.Thr343Ile) rs1553244875
NM_000702.4(ATP1A2):c.1036G>A (p.Ala346Thr)
NM_000702.4(ATP1A2):c.1051C>G (p.Arg351Gly)
NM_000702.4(ATP1A2):c.1052G>A (p.Arg351Gln) rs754655141
NM_000702.4(ATP1A2):c.1057A>T (p.Asn353Tyr) rs1454080069
NM_000702.4(ATP1A2):c.1061G>A (p.Cys354Tyr)
NM_000702.4(ATP1A2):c.1062C>G (p.Cys354Trp) rs1651663976
NM_000702.4(ATP1A2):c.106G>A (p.Glu36Lys) rs1651377160
NM_000702.4(ATP1A2):c.1082C>T (p.Ala361Val) rs2101989129
NM_000702.4(ATP1A2):c.1097G>A (p.Gly366Asp) rs1057518514
NM_000702.4(ATP1A2):c.10G>A (p.Gly4Arg)
NM_000702.4(ATP1A2):c.1100C>G (p.Ser367Cys) rs2101989154
NM_000702.4(ATP1A2):c.1105T>C (p.Ser369Pro)
NM_000702.4(ATP1A2):c.1118C>T (p.Ser373Leu) rs1651665360
NM_000702.4(ATP1A2):c.111G>A (p.Val37=) rs886045414
NM_000702.4(ATP1A2):c.1132A>G (p.Thr378Ala)
NM_000702.4(ATP1A2):c.1147C>T (p.Arg383Cys)
NM_000702.4(ATP1A2):c.1150A>G (p.Met384Val) rs1570988778
NM_000702.4(ATP1A2):c.1159G>A (p.Ala387Thr)
NM_000702.4(ATP1A2):c.1160C>T (p.Ala387Val) rs1651667301
NM_000702.4(ATP1A2):c.1163A>G (p.His388Arg)
NM_000702.4(ATP1A2):c.1165A>G (p.Met389Val) rs1651667422
NM_000702.4(ATP1A2):c.1167G>A (p.Met389Ile)
NM_000702.4(ATP1A2):c.1171T>C (p.Phe391Leu) rs1651667900
NM_000702.4(ATP1A2):c.1190A>C (p.Glu397Ala)
NM_000702.4(ATP1A2):c.12+3G>A rs2101980042
NM_000702.4(ATP1A2):c.12+6T>C rs888389853
NM_000702.4(ATP1A2):c.1216+3G>A rs2101989261
NM_000702.4(ATP1A2):c.1216+5T>C rs780155641
NM_000702.4(ATP1A2):c.1216+5T>G rs780155641
NM_000702.4(ATP1A2):c.1228G>A (p.Asp410Asn) rs2101989431
NM_000702.4(ATP1A2):c.1232A>G (p.Lys411Arg)
NM_000702.4(ATP1A2):c.1235G>A (p.Arg412Gln) rs765021457
NM_000702.4(ATP1A2):c.1241C>T (p.Pro414Leu) rs767672945
NM_000702.4(ATP1A2):c.1244C>G (p.Thr415Arg)
NM_000702.4(ATP1A2):c.1249A>G (p.Thr417Ala) rs1486565697
NM_000702.4(ATP1A2):c.1251G>A (p.Thr417=) rs142309356
NM_000702.4(ATP1A2):c.1252G>T (p.Ala418Ser)
NM_000702.4(ATP1A2):c.1253C>T (p.Ala418Val)
NM_000702.4(ATP1A2):c.1255C>A (p.Leu419Met)
NM_000702.4(ATP1A2):c.1297G>A (p.Ala433Thr)
NM_000702.4(ATP1A2):c.129G>C (p.Lys43Asn) rs61734527
NM_000702.4(ATP1A2):c.1310A>G (p.Asn437Ser) rs1651682704
NM_000702.4(ATP1A2):c.1318G>A (p.Val440Met) rs768088341
NM_000702.4(ATP1A2):c.1326+6G>T
NM_000702.4(ATP1A2):c.1326G>A (p.Lys442=)
NM_000702.4(ATP1A2):c.1327C>G (p.Arg443Gly) rs1274611333
NM_000702.4(ATP1A2):c.1334C>T (p.Thr445Ile) rs2101989727
NM_000702.4(ATP1A2):c.133T>A (p.Ser45Thr) rs1651384906
NM_000702.4(ATP1A2):c.1355C>T (p.Ser452Leu)
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.1388G>T (p.Gly463Val)
NM_000702.4(ATP1A2):c.13G>T (p.Ala5Ser)
NM_000702.4(ATP1A2):c.1402A>G (p.Met468Val) rs2101989788
NM_000702.4(ATP1A2):c.1406G>A (p.Arg469Lys)
NM_000702.4(ATP1A2):c.1409A>G (p.Asp470Gly)
NM_000702.4(ATP1A2):c.1412G>C (p.Arg471Thr)
NM_000702.4(ATP1A2):c.1417C>A (p.Pro473Thr) rs1045596574
NM_000702.4(ATP1A2):c.1418C>T (p.Pro473Leu) rs1000639881
NM_000702.4(ATP1A2):c.1432A>G (p.Ile478Val) rs1553245013
NM_000702.4(ATP1A2):c.1438T>G (p.Phe480Val)
NM_000702.4(ATP1A2):c.1446_1448del (p.Thr483del)
NM_000702.4(ATP1A2):c.1461+18_1461+19delinsTA
NM_000702.4(ATP1A2):c.1461+5G>T rs199906945
NM_000702.4(ATP1A2):c.1462-3C>T
NM_000702.4(ATP1A2):c.1471C>A (p.His491Asn) rs747333323
NM_000702.4(ATP1A2):c.1481A>G (p.Glu494Gly) rs2101990357
NM_000702.4(ATP1A2):c.1483G>A (p.Asp495Asn)
NM_000702.4(ATP1A2):c.1490C>G (p.Pro497Arg) rs1651723270
NM_000702.4(ATP1A2):c.1499A>T (p.His500Leu)
NM_000702.4(ATP1A2):c.149G>T (p.Gly50Val) rs1570983300
NM_000702.4(ATP1A2):c.1507G>C (p.Val503Leu) rs2101990393
NM_000702.4(ATP1A2):c.1514A>C (p.Lys505Thr) rs1570990059
NM_000702.4(ATP1A2):c.1519G>T (p.Ala507Ser) rs1651724587
NM_000702.4(ATP1A2):c.152G>T (p.Arg51Leu) rs144106169
NM_000702.4(ATP1A2):c.1541G>T (p.Arg514Leu) rs748654627
NM_000702.4(ATP1A2):c.1549A>G (p.Thr517Ala)
NM_000702.4(ATP1A2):c.1553T>A (p.Ile518Asn)
NM_000702.4(ATP1A2):c.1554C>G (p.Ile518Met) rs771003528
NM_000702.4(ATP1A2):c.1562A>G (p.Gln521Arg)
NM_000702.4(ATP1A2):c.158A>G (p.Tyr53Cys)
NM_000702.4(ATP1A2):c.1597G>C (p.Asp533His)
NM_000702.4(ATP1A2):c.160C>A (p.Gln54Lys)
NM_000702.4(ATP1A2):c.1619T>G (p.Met540Arg) rs868632991
NM_000702.4(ATP1A2):c.1631G>T (p.Gly544Val) rs1651730758
NM_000702.4(ATP1A2):c.1634T>C (p.Leu545Pro)
NM_000702.4(ATP1A2):c.1652-3T>C rs1553245152
NM_000702.4(ATP1A2):c.1652-9C>A rs1651736137
NM_000702.4(ATP1A2):c.1652G>C (p.Gly551Ala)
NM_000702.4(ATP1A2):c.1705G>A (p.Asp569Asn)
NM_000702.4(ATP1A2):c.170T>C (p.Leu57Pro)
NM_000702.4(ATP1A2):c.1726C>A (p.Pro576Thr)
NM_000702.4(ATP1A2):c.172T>A (p.Ser58Thr)
NM_000702.4(ATP1A2):c.1730C>A (p.Thr577Lys) rs747886840
NM_000702.4(ATP1A2):c.1730C>T (p.Thr577Met) rs747886840
NM_000702.4(ATP1A2):c.1734G>C (p.Glu578Asp) rs2101990757
NM_000702.4(ATP1A2):c.1741T>C (p.Cys581Arg)
NM_000702.4(ATP1A2):c.1769A>G (p.Asp590Gly)
NM_000702.4(ATP1A2):c.1769A>T (p.Asp590Val) rs1570990507
NM_000702.4(ATP1A2):c.176A>C (p.Lys59Thr) rs1367410532
NM_000702.4(ATP1A2):c.1774C>T (p.Pro592Ser)
NM_000702.4(ATP1A2):c.178-7C>A
NM_000702.4(ATP1A2):c.1784C>T (p.Ala595Val) rs1211758102
NM_000702.4(ATP1A2):c.179G>A (p.Gly60Asp)
NM_000702.4(ATP1A2):c.1807T>G (p.Cys603Gly)
NM_000702.4(ATP1A2):c.1808G>A (p.Cys603Tyr)
NM_000702.4(ATP1A2):c.1827+3A>G rs377238291
NM_000702.4(ATP1A2):c.1859C>G (p.Thr620Arg) rs1057521886
NM_000702.4(ATP1A2):c.185C>G (p.Thr62Ser)
NM_000702.4(ATP1A2):c.1873G>T (p.Ala625Ser)
NM_000702.4(ATP1A2):c.1885G>A (p.Gly629Ser) rs920199278
NM_000702.4(ATP1A2):c.1930C>T (p.Arg644Trp) rs150784486
NM_000702.4(ATP1A2):c.194G>A (p.Arg65Gln)
NM_000702.4(ATP1A2):c.1963A>G (p.Arg655Gly)
NM_000702.4(ATP1A2):c.1966G>A (p.Glu656Lys)
NM_000702.4(ATP1A2):c.1975G>T (p.Ala659Ser) rs1322861091
NM_000702.4(ATP1A2):c.19C>G (p.Arg7Gly) rs761260548
NM_000702.4(ATP1A2):c.2008A>G (p.Met670Val) rs1184210055
NM_000702.4(ATP1A2):c.2014T>A (p.Ser672Thr) rs1651897433
NM_000702.4(ATP1A2):c.2026G>A (p.Asp676Asn) rs868105479
NM_000702.4(ATP1A2):c.202G>A (p.Asp68Asn)
NM_000702.4(ATP1A2):c.202G>T (p.Asp68Tyr) rs1651476108
NM_000702.4(ATP1A2):c.2056G>A (p.Val686Ile) rs780606939
NM_000702.4(ATP1A2):c.2069C>G (p.Thr690Arg)
NM_000702.4(ATP1A2):c.2074C>A (p.Pro692Thr)
NM_000702.4(ATP1A2):c.2080C>A (p.Gln694Lys)
NM_000702.4(ATP1A2):c.20G>C (p.Arg7Pro) rs764755889
NM_000702.4(ATP1A2):c.2101G>A (p.Gly701Arg)
NM_000702.4(ATP1A2):c.2104T>A (p.Cys702Ser) rs1651899578
NM_000702.4(ATP1A2):c.2107C>G (p.Gln703Glu) rs1651900087
NM_000702.4(ATP1A2):c.2111G>A (p.Arg704Lys) rs2101994868
NM_000702.4(ATP1A2):c.2115+6C>G
NM_000702.4(ATP1A2):c.2116-14_2116-13delinsAA
NM_000702.4(ATP1A2):c.2117G>A (p.Gly706Glu) rs757033679
NM_000702.4(ATP1A2):c.211G>A (p.Ala71Thr) rs1558003394
NM_000702.4(ATP1A2):c.2123T>A (p.Ile708Asn) rs1341609289
NM_000702.4(ATP1A2):c.2128G>T (p.Ala710Ser) rs1553245764
NM_000702.4(ATP1A2):c.2131G>A (p.Val711Met) rs1282248061
NM_000702.4(ATP1A2):c.215G>A (p.Arg72Gln) rs779812635
NM_000702.4(ATP1A2):c.215G>C (p.Arg72Pro) rs779812635
NM_000702.4(ATP1A2):c.2197A>G (p.Ile733Val)
NM_000702.4(ATP1A2):c.2203G>A (p.Gly735Ser)
NM_000702.4(ATP1A2):c.2230G>A (p.Asp744Asn) rs1131691922
NM_000702.4(ATP1A2):c.2251A>G (p.Asn751Asp) rs1651910730
NM_000702.4(ATP1A2):c.2263A>G (p.Ile755Val) rs1038057853
NM_000702.4(ATP1A2):c.2275G>T (p.Val759Leu) rs1553245779
NM_000702.4(ATP1A2):c.2276T>C (p.Val759Ala) rs2101995205
NM_000702.4(ATP1A2):c.2277G>A (p.Val759=)
NM_000702.4(ATP1A2):c.2281G>A (p.Glu761Lys)
NM_000702.4(ATP1A2):c.2283G>A (p.Glu761=) rs760732436
NM_000702.4(ATP1A2):c.2285-3C>T rs1372396453
NM_000702.4(ATP1A2):c.2285G>C (p.Gly762Ala) rs1461860929
NM_000702.4(ATP1A2):c.2287C>T (p.Arg763Cys) rs2101995435
NM_000702.4(ATP1A2):c.2288G>A (p.Arg763His) rs1403515889
NM_000702.4(ATP1A2):c.2298T>G (p.Phe766Leu) rs2101995452
NM_000702.4(ATP1A2):c.2308A>G (p.Lys770Glu) rs1651921216
NM_000702.4(ATP1A2):c.2327C>T (p.Thr776Ile)
NM_000702.4(ATP1A2):c.2335A>C (p.Ser779Arg)
NM_000702.4(ATP1A2):c.2337C>A (p.Ser779Arg) rs2101995485
NM_000702.4(ATP1A2):c.2339A>G (p.Asn780Ser) rs1651921528
NM_000702.4(ATP1A2):c.2378C>T (p.Ala793Val)
NM_000702.4(ATP1A2):c.2387C>T (p.Pro796Leu) rs1651922528
NM_000702.4(ATP1A2):c.2408C>T (p.Thr803Ile)
NM_000702.4(ATP1A2):c.2422G>C (p.Asp808His) rs1651923218
NM_000702.4(ATP1A2):c.2424C>A (p.Asp808Glu)
NM_000702.4(ATP1A2):c.2426T>G (p.Leu809Arg) rs1553245805
NM_000702.4(ATP1A2):c.2431A>G (p.Thr811Ala)
NM_000702.4(ATP1A2):c.2432C>G (p.Thr811Arg)
NM_000702.4(ATP1A2):c.2432_2433delinsAC (p.Thr811Asn) rs1651923573
NM_000702.4(ATP1A2):c.2439+3G>A
NM_000702.4(ATP1A2):c.2439+5G>A rs1651923862
NM_000702.4(ATP1A2):c.2439+6C>A
NM_000702.4(ATP1A2):c.2449A>G (p.Ile817Val)
NM_000702.4(ATP1A2):c.2473G>A (p.Glu825Lys) rs2101995840
NM_000702.4(ATP1A2):c.2491C>T (p.Arg831Trp) rs1570995030
NM_000702.4(ATP1A2):c.2497C>T (p.Pro833Ser)
NM_000702.4(ATP1A2):c.2500C>G (p.Arg834Gly) rs755310507
NM_000702.4(ATP1A2):c.250A>G (p.Thr84Ala) rs1651478160
NM_000702.4(ATP1A2):c.2513C>T (p.Thr838Met) rs1282862455
NM_000702.4(ATP1A2):c.2515G>T (p.Asp839Tyr)
NM_000702.4(ATP1A2):c.2546T>C (p.Met849Thr)
NM_000702.4(ATP1A2):c.2556_2563+1dup rs2101995893
NM_000702.4(ATP1A2):c.2563+3G>C
NM_000702.4(ATP1A2):c.2563+6C>T
NM_000702.4(ATP1A2):c.2564-16G>A
NM_000702.4(ATP1A2):c.2566A>T (p.Met856Leu)
NM_000702.4(ATP1A2):c.2582G>T (p.Gly861Val)
NM_000702.4(ATP1A2):c.2599T>C (p.Phe867Leu) rs2101996133
NM_000702.4(ATP1A2):c.2610G>A (p.Leu870=)
NM_000702.4(ATP1A2):c.2611G>A (p.Ala871Thr)
NM_000702.4(ATP1A2):c.2619C>G (p.Asn873Lys)
NM_000702.4(ATP1A2):c.2635C>T (p.Arg879Trp)
NM_000702.4(ATP1A2):c.2644G>A (p.Gly882Arg)
NM_000702.4(ATP1A2):c.2650C>T (p.Arg884Cys) rs765117244
NM_000702.4(ATP1A2):c.2651G>A (p.Arg884His)
NM_000702.4(ATP1A2):c.2656G>T (p.Asp886Tyr)
NM_000702.4(ATP1A2):c.2668C>G (p.Arg890Gly)
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.2703G>T (p.Gln901His)
NM_000702.4(ATP1A2):c.2709+5G>C
NM_000702.4(ATP1A2):c.2714A>G (p.Tyr905Cys)
NM_000702.4(ATP1A2):c.2716G>C (p.Glu906Gln) rs1651972255
NM_000702.4(ATP1A2):c.2722C>T (p.Arg908Trp) rs758772895
NM_000702.4(ATP1A2):c.2752G>A (p.Ala918Thr) rs776809763
NM_000702.4(ATP1A2):c.2770G>A (p.Val924Met) rs373276446
NM_000702.4(ATP1A2):c.2774T>C (p.Val925Ala) rs1651973840
NM_000702.4(ATP1A2):c.280C>A (p.Leu94Ile) rs950102855
NM_000702.4(ATP1A2):c.2813G>A (p.Arg938His)
NM_000702.4(ATP1A2):c.2833G>A (p.Gly945Ser)
NM_000702.4(ATP1A2):c.2842A>C (p.Asn948His)
NM_000702.4(ATP1A2):c.2859T>G (p.Phe953Leu) rs1652069624
NM_000702.4(ATP1A2):c.2863C>G (p.Leu955Val)
NM_000702.4(ATP1A2):c.2867T>C (p.Leu956Pro)
NM_000702.4(ATP1A2):c.286G>A (p.Gly96Arg)
NM_000702.4(ATP1A2):c.2870A>C (p.Glu957Ala) rs1652069991
NM_000702.4(ATP1A2):c.2876C>G (p.Thr959Arg)
NM_000702.4(ATP1A2):c.2879C>T (p.Ala960Val)
NM_000702.4(ATP1A2):c.290G>A (p.Gly97Glu)
NM_000702.4(ATP1A2):c.2921C>A (p.Ala974Asp)
NM_000702.4(ATP1A2):c.2923C>T (p.Leu975Phe) rs1652072049
NM_000702.4(ATP1A2):c.2926C>A (p.Arg976Ser) rs371742379
NM_000702.4(ATP1A2):c.2942+5G>T
NM_000702.4(ATP1A2):c.2943-3C>G
NM_000702.4(ATP1A2):c.2983A>T (p.Ile995Phe) rs2101998794
NM_000702.4(ATP1A2):c.2T>C (p.Met1Thr) rs1651158379
NM_000702.4(ATP1A2):c.3010C>T (p.Leu1004Phe)
NM_000702.4(ATP1A2):c.3017T>C (p.Leu1006Pro)
NM_000702.4(ATP1A2):c.3022C>T (p.Arg1008Trp)
NM_000702.4(ATP1A2):c.3043G>A (p.Glu1015Lys)
NM_000702.4(ATP1A2):c.305T>C (p.Leu102Pro)
NM_000702.4(ATP1A2):c.309G>C (p.Trp103Cys)
NM_000702.4(ATP1A2):c.319A>G (p.Ile107Val) rs2101985456
NM_000702.4(ATP1A2):c.332T>C (p.Leu111Pro)
NM_000702.4(ATP1A2):c.335C>A (p.Ala112Asp) rs878854140
NM_000702.4(ATP1A2):c.347A>G (p.Gln116Arg)
NM_000702.4(ATP1A2):c.349G>A (p.Ala117Thr) rs1651481117
NM_000702.4(ATP1A2):c.350C>T (p.Ala117Val)
NM_000702.4(ATP1A2):c.368C>A (p.Pro123Gln)
NM_000702.4(ATP1A2):c.37G>A (p.Ala13Thr) rs753074130
NM_000702.4(ATP1A2):c.381+5G>A
NM_000702.4(ATP1A2):c.382-20A>G
NM_000702.4(ATP1A2):c.38C>T (p.Ala13Val)
NM_000702.4(ATP1A2):c.396G>A (p.Val132=)
NM_000702.4(ATP1A2):c.398T>C (p.Val133Ala) rs1651502435
NM_000702.4(ATP1A2):c.407C>T (p.Ala136Val) rs1651502620
NM_000702.4(ATP1A2):c.412G>T (p.Val138Phe)
NM_000702.4(ATP1A2):c.434C>A (p.Ser145Tyr)
NM_000702.4(ATP1A2):c.468G>A (p.Met156Ile) rs2101985912
NM_000702.4(ATP1A2):c.46G>A (p.Ala16Thr)
NM_000702.4(ATP1A2):c.477C>G (p.Phe159Leu) rs2101985919
NM_000702.4(ATP1A2):c.481A>G (p.Asn161Asp) rs796052279
NM_000702.4(ATP1A2):c.495+17_495+28dup
NM_000702.4(ATP1A2):c.496-5C>G rs1651512608
NM_000702.4(ATP1A2):c.496C>A (p.Gln166Lys)
NM_000702.4(ATP1A2):c.511C>T (p.Arg171Trp)
NM_000702.4(ATP1A2):c.512G>A (p.Arg171Gln) rs1553244392
NM_000702.4(ATP1A2):c.520G>A (p.Glu174Lys)
NM_000702.4(ATP1A2):c.544G>A (p.Glu182Lys)
NM_000702.4(ATP1A2):c.547G>T (p.Val183Leu)
NM_000702.4(ATP1A2):c.554T>C (p.Val185Ala)
NM_000702.4(ATP1A2):c.568G>A (p.Glu190Lys)
NM_000702.4(ATP1A2):c.58G>A (p.Gly20Ser) rs1558002462
NM_000702.4(ATP1A2):c.592C>A (p.Pro198Thr)
NM_000702.4(ATP1A2):c.607A>C (p.Ile203Leu) rs1259959010
NM_000702.4(ATP1A2):c.619C>T (p.His207Tyr) rs1057523810
NM_000702.4(ATP1A2):c.621T>A (p.His207Gln) rs1048175233
NM_000702.4(ATP1A2):c.623G>A (p.Gly208Asp)
NM_000702.4(ATP1A2):c.631-10_631-4del
NM_000702.4(ATP1A2):c.633G>A (p.Val211=) rs1054187251
NM_000702.4(ATP1A2):c.641C>T (p.Ser214Leu)
NM_000702.4(ATP1A2):c.650C>T (p.Thr217Ile)
NM_000702.4(ATP1A2):c.664C>T (p.Pro222Ser) rs1570986069
NM_000702.4(ATP1A2):c.674G>A (p.Arg225His) rs778741638
NM_000702.4(ATP1A2):c.67A>G (p.Lys23Glu) rs1651376133
NM_000702.4(ATP1A2):c.682G>A (p.Glu228Lys)
NM_000702.4(ATP1A2):c.685T>G (p.Phe229Val) rs1651546645
NM_000702.4(ATP1A2):c.694G>C (p.Glu232Gln) rs775220854
NM_000702.4(ATP1A2):c.712C>T (p.Arg238Cys) rs1558004341
NM_000702.4(ATP1A2):c.728T>A (p.Phe243Tyr) rs1651548339
NM_000702.4(ATP1A2):c.742G>T (p.Val248Phe) rs1651549443
NM_000702.4(ATP1A2):c.748+3G>T
NM_000702.4(ATP1A2):c.749-15C>G
NM_000702.4(ATP1A2):c.755C>T (p.Ala252Val)
NM_000702.4(ATP1A2):c.784C>T (p.Arg262Trp)
NM_000702.4(ATP1A2):c.794T>C (p.Met265Thr) rs1651625639
NM_000702.4(ATP1A2):c.800G>A (p.Arg267His)
NM_000702.4(ATP1A2):c.848C>A (p.Ala283Glu)
NM_000702.4(ATP1A2):c.848C>T (p.Ala283Val) rs1553244740
NM_000702.4(ATP1A2):c.881C>T (p.Thr294Ile)
NM_000702.4(ATP1A2):c.892_909dup (p.Val298_Ser303dup) rs2101988440
NM_000702.4(ATP1A2):c.91G>A (p.Asp31Asn)
NM_000702.4(ATP1A2):c.953C>A (p.Ala318Glu) rs2101988461
NM_000702.4(ATP1A2):c.956T>A (p.Val319Asp)
NM_000702.4(ATP1A2):c.972C>T (p.Gly324=)
NM_000702.4(ATP1A2):c.973A>T (p.Ile325Phe)
NM_000702.4(ATP1A2):c.994G>A (p.Glu332Lys) rs2101988492

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