ClinVar Miner

List of variants in gene ATP1A3 reported as uncertain significance by Invitae

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Gene type:
ClinVar version:
Total variants: 265
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HGVS dbSNP gnomAD frequency
NM_152296.5(ATP1A3):c.2616C>A (p.Asn872Lys) rs782057287 0.00010
NM_152296.5(ATP1A3):c.93+5G>A rs372694213 0.00010
NM_152296.5(ATP1A3):c.191G>A (p.Arg64Gln) rs201573515 0.00006
NM_152296.5(ATP1A3):c.739G>A (p.Val247Met) rs782227665 0.00006
NM_152296.5(ATP1A3):c.1924G>A (p.Val642Ile) rs201391210 0.00005
NM_152296.5(ATP1A3):c.1520G>A (p.Arg507His) rs782370873 0.00003
NM_152296.5(ATP1A3):c.3014G>A (p.Gly1005Asp) rs1428514255 0.00003
NM_152296.5(ATP1A3):c.1910G>A (p.Arg637Gln) rs1555861967 0.00002
NM_152296.5(ATP1A3):c.2418+3G>A rs782778060 0.00002
NM_152296.5(ATP1A3):c.2492C>T (p.Thr831Met) rs782674903 0.00002
NM_152296.5(ATP1A3):c.251G>A (p.Arg84Gln) rs782194114 0.00002
NM_152296.5(ATP1A3):c.2896G>A (p.Val966Met) rs782665893 0.00002
NM_152296.5(ATP1A3):c.2907C>T (p.Arg969=) rs782611500 0.00002
NM_152296.5(ATP1A3):c.3011G>T (p.Gly1004Val) rs782204932 0.00002
NM_152296.5(ATP1A3):c.904A>G (p.Ile302Val) rs782326264 0.00002
NM_152296.5(ATP1A3):c.1027C>T (p.Arg343Trp) rs782423325 0.00001
NM_152296.5(ATP1A3):c.1261G>A (p.Ala421Thr) rs782154735 0.00001
NM_152296.5(ATP1A3):c.128G>A (p.Arg43Gln) rs782453913 0.00001
NM_152296.5(ATP1A3):c.1312G>A (p.Ala438Thr) rs782711218 0.00001
NM_152296.5(ATP1A3):c.1333G>T (p.Ala445Ser) rs1555863376 0.00001
NM_152296.5(ATP1A3):c.1472A>G (p.Asn491Ser) rs782775696 0.00001
NM_152296.5(ATP1A3):c.1474C>G (p.Arg492Gly) rs1254049182 0.00001
NM_152296.5(ATP1A3):c.1519C>T (p.Arg507Cys) rs749776123 0.00001
NM_152296.5(ATP1A3):c.1563C>A (p.Asp521Glu) rs368551273 0.00001
NM_152296.5(ATP1A3):c.1654G>C (p.Glu552Gln) rs367904817 0.00001
NM_152296.5(ATP1A3):c.1705A>G (p.Thr569Ala) rs1555862136 0.00001
NM_152296.5(ATP1A3):c.1710G>A (p.Thr570=) rs781840505 0.00001
NM_152296.5(ATP1A3):c.1839G>A (p.Thr613=) rs376852509 0.00001
NM_152296.5(ATP1A3):c.1906G>A (p.Ala636Thr) rs782744167 0.00001
NM_152296.5(ATP1A3):c.190C>T (p.Arg64Trp) rs1203339638 0.00001
NM_152296.5(ATP1A3):c.1930C>G (p.Gln644Glu) rs1555861946 0.00001
NM_152296.5(ATP1A3):c.1942C>T (p.Arg648Trp) rs1555861935 0.00001
NM_152296.5(ATP1A3):c.1973C>T (p.Thr658Ile) rs1241113172 0.00001
NM_152296.5(ATP1A3):c.2009A>G (p.Glu670Gly) rs2075172328 0.00001
NM_152296.5(ATP1A3):c.2171T>C (p.Met724Thr) rs1329568831 0.00001
NM_152296.5(ATP1A3):c.274A>G (p.Ile92Val) rs933392084 0.00001
NM_152296.5(ATP1A3):c.2887G>A (p.Gly963Ser) rs200582951 0.00001
NM_152296.5(ATP1A3):c.2968G>A (p.Val990Ile) rs781786336 0.00001
NM_152296.5(ATP1A3):c.3013+10C>G rs782023293 0.00001
NM_152296.5(ATP1A3):c.358-6C>T rs1395827738 0.00001
NM_152296.5(ATP1A3):c.598G>A (p.Gly200Ser) rs1555865238 0.00001
NM_152296.5(ATP1A3):c.658G>A (p.Asp220Asn) rs1396898460 0.00001
NC_000019.10:g.(?_41966917)_(41978818_?)dup
NC_000019.9:g.(?_42482078)_(42498228_?)dup
NC_000019.9:g.(?_42489996)_(42492734_?)dup
NM_152296.5(ATP1A3):c.1012G>A (p.Ala338Thr) rs2145972624
NM_152296.5(ATP1A3):c.1013C>A (p.Ala338Asp) rs2075238567
NM_152296.5(ATP1A3):c.1018C>T (p.Arg340Cys)
NM_152296.5(ATP1A3):c.1050C>A (p.Asn350Lys)
NM_152296.5(ATP1A3):c.1073G>C (p.Gly358Ala) rs1555863693
NM_152296.5(ATP1A3):c.1096G>A (p.Asp366Asn) rs2145972473
NM_152296.5(ATP1A3):c.1103C>T (p.Thr368Ile) rs1599719492
NM_152296.5(ATP1A3):c.1111C>G (p.Leu371Val)
NM_152296.5(ATP1A3):c.1124G>A (p.Arg375His) rs200891944
NM_152296.5(ATP1A3):c.1133T>C (p.Val378Ala) rs2145972381
NM_152296.5(ATP1A3):c.113T>C (p.Val38Ala) rs886044790
NM_152296.5(ATP1A3):c.1164C>A (p.His388Gln) rs201446077
NM_152296.5(ATP1A3):c.1186C>G (p.Gln396Glu)
NM_152296.5(ATP1A3):c.1192+3G>C
NM_152296.5(ATP1A3):c.1207A>G (p.Lys403Glu)
NM_152296.5(ATP1A3):c.1222T>C (p.Trp408Arg)
NM_152296.5(ATP1A3):c.1232T>C (p.Leu411Pro) rs1568862410
NM_152296.5(ATP1A3):c.1238A>G (p.His413Arg)
NM_152296.5(ATP1A3):c.1243G>C (p.Ala415Pro)
NM_152296.5(ATP1A3):c.1269C>T (p.Phe423=)
NM_152296.5(ATP1A3):c.126C>T (p.Cys42=)
NM_152296.5(ATP1A3):c.1279C>G (p.Gln427Glu) rs2075234284
NM_152296.5(ATP1A3):c.127C>T (p.Arg43Trp)
NM_152296.5(ATP1A3):c.1288A>G (p.Ile430Val) rs1555863472
NM_152296.5(ATP1A3):c.1290C>G (p.Ile430Met)
NM_152296.5(ATP1A3):c.1304G>A (p.Arg435Lys)
NM_152296.5(ATP1A3):c.1322C>T (p.Ala441Val) rs2075232659
NM_152296.5(ATP1A3):c.1336C>G (p.Leu446Val) rs2075232387
NM_152296.5(ATP1A3):c.1351G>A (p.Glu451Lys)
NM_152296.5(ATP1A3):c.1357T>G (p.Ser453Ala) rs1480822980
NM_152296.5(ATP1A3):c.1369G>C (p.Val457Leu) rs2145971610
NM_152296.5(ATP1A3):c.13A>G (p.Lys5Glu) rs2145984238
NM_152296.5(ATP1A3):c.1437+4C>T rs2145971500
NM_152296.5(ATP1A3):c.1437+5T>A
NM_152296.5(ATP1A3):c.1454C>T (p.Thr485Ile) rs1555862366
NM_152296.5(ATP1A3):c.1456G>A (p.Glu486Lys) rs1599716048
NM_152296.5(ATP1A3):c.1462C>T (p.Pro488Ser)
NM_152296.5(ATP1A3):c.1466A>G (p.Asn489Ser) rs2075199183
NM_152296.5(ATP1A3):c.1468G>A (p.Asp490Asn)
NM_152296.5(ATP1A3):c.1491G>C (p.Met497Ile) rs2075198787
NM_152296.5(ATP1A3):c.1495G>A (p.Gly499Ser) rs2145966073
NM_152296.5(ATP1A3):c.1499C>G (p.Ala500Gly)
NM_152296.5(ATP1A3):c.1525T>G (p.Ser509Ala)
NM_152296.5(ATP1A3):c.1538T>A (p.Leu513Gln)
NM_152296.5(ATP1A3):c.1541A>C (p.Gln514Pro) rs2145965993
NM_152296.5(ATP1A3):c.1542G>C (p.Gln514His)
NM_152296.5(ATP1A3):c.1549G>C (p.Glu517Gln) rs782583311
NM_152296.5(ATP1A3):c.1552C>G (p.Gln518Glu)
NM_152296.5(ATP1A3):c.1555C>A (p.Pro519Thr)
NM_152296.5(ATP1A3):c.1564G>A (p.Glu522Lys) rs782769181
NM_152296.5(ATP1A3):c.1609G>A (p.Gly537Ser) rs2145965881
NM_152296.5(ATP1A3):c.1621C>T (p.Arg541Cys) rs1555862292
NM_152296.5(ATP1A3):c.1624G>T (p.Val542Leu)
NM_152296.5(ATP1A3):c.1629T>C (p.Leu543=)
NM_152296.5(ATP1A3):c.1630+17C>T
NM_152296.5(ATP1A3):c.1630+4C>T
NM_152296.5(ATP1A3):c.1651C>T (p.Pro551Ser) rs2075193911
NM_152296.5(ATP1A3):c.1657G>A (p.Glu553Lys) rs2075193714
NM_152296.5(ATP1A3):c.1672G>A (p.Gly558Ser)
NM_152296.5(ATP1A3):c.1673G>A (p.Gly558Asp) rs2075193579
NM_152296.5(ATP1A3):c.1716C>G (p.Asn572Lys) rs782017635
NM_152296.5(ATP1A3):c.1747G>A (p.Asp583Asn) rs2145964907
NM_152296.5(ATP1A3):c.1775C>A (p.Ala592Glu) rs1599715351
NM_152296.5(ATP1A3):c.1775C>T (p.Ala592Val) rs1599715351
NM_152296.5(ATP1A3):c.1789C>T (p.Arg597Cys) rs2075192084
NM_152296.5(ATP1A3):c.1795G>A (p.Ala599Thr) rs1057519113
NM_152296.5(ATP1A3):c.1795G>C (p.Ala599Pro)
NM_152296.5(ATP1A3):c.1801A>T (p.Ile601Phe) rs1599715325
NM_152296.5(ATP1A3):c.1820C>T (p.Thr607Ile) rs2145964580
NM_152296.5(ATP1A3):c.1825G>A (p.Asp609Asn) rs2075190697
NM_152296.5(ATP1A3):c.1843A>G (p.Lys615Glu)
NM_152296.5(ATP1A3):c.1853C>A (p.Ala618Asp)
NM_152296.5(ATP1A3):c.1853C>T (p.Ala618Val)
NM_152296.5(ATP1A3):c.1884C>A (p.Asn628Lys) rs144130986
NM_152296.5(ATP1A3):c.1906G>T (p.Ala636Ser)
NM_152296.5(ATP1A3):c.1928G>A (p.Ser643Asn) rs2145964356
NM_152296.5(ATP1A3):c.1928G>C (p.Ser643Thr)
NM_152296.5(ATP1A3):c.1931A>T (p.Gln644Leu) rs1060500992
NM_152296.5(ATP1A3):c.1932G>C (p.Gln644His)
NM_152296.5(ATP1A3):c.1944-16T>A
NM_152296.5(ATP1A3):c.1954G>C (p.Ala652Pro) rs2075173086
NM_152296.5(ATP1A3):c.196G>A (p.Gly66Arg) rs2145983320
NM_152296.5(ATP1A3):c.1975G>T (p.Asp659Tyr) rs375193034
NM_152296.5(ATP1A3):c.2027C>T (p.Thr676Ile)
NM_152296.5(ATP1A3):c.2035G>A (p.Val679Ile) rs781854249
NM_152296.5(ATP1A3):c.2035G>T (p.Val679Phe) rs781854249
NM_152296.5(ATP1A3):c.2036T>C (p.Val679Ala)
NM_152296.5(ATP1A3):c.2094G>A (p.Gln698=) rs782060744
NM_152296.5(ATP1A3):c.2095-3C>T rs782736392
NM_152296.5(ATP1A3):c.2096G>A (p.Gly699Asp) rs2075159832
NM_152296.5(ATP1A3):c.2122G>A (p.Gly708Ser) rs782288524
NM_152296.5(ATP1A3):c.2131G>A (p.Asp711Asn)
NM_152296.5(ATP1A3):c.2140G>A (p.Ala714Thr) rs2145959562
NM_152296.5(ATP1A3):c.2191G>A (p.Val731Ile) rs1131691813
NM_152296.5(ATP1A3):c.2203G>A (p.Ala735Thr) rs2075158274
NM_152296.5(ATP1A3):c.2227G>A (p.Asp743Asn) rs1555860790
NM_152296.5(ATP1A3):c.2227G>T (p.Asp743Tyr)
NM_152296.5(ATP1A3):c.2232C>A (p.Asn744Lys)
NM_152296.5(ATP1A3):c.2240C>A (p.Ser747Tyr)
NM_152296.5(ATP1A3):c.2245G>A (p.Val749Ile) rs2075157919
NM_152296.5(ATP1A3):c.2251G>A (p.Gly751Arg) rs1599712463
NM_152296.5(ATP1A3):c.2258A>G (p.Glu753Gly)
NM_152296.5(ATP1A3):c.227C>T (p.Thr76Ile) rs2145983246
NM_152296.5(ATP1A3):c.2309T>G (p.Leu770Arg)
NM_152296.5(ATP1A3):c.2354T>A (p.Met785Lys) rs2075091235
NM_152296.5(ATP1A3):c.2366C>T (p.Pro789Leu)
NM_152296.5(ATP1A3):c.2371C>T (p.Pro791Ser) rs1599706459
NM_152296.5(ATP1A3):c.2393T>C (p.Leu798Pro) rs1568854359
NM_152296.5(ATP1A3):c.2403T>A (p.Asp801Glu) rs1568854338
NM_152296.5(ATP1A3):c.2419G>A (p.Val807Ile)
NM_152296.5(ATP1A3):c.2434C>G (p.Leu812Val)
NM_152296.5(ATP1A3):c.2438C>T (p.Ala813Val)
NM_152296.5(ATP1A3):c.2447C>G (p.Ala816Gly)
NM_152296.5(ATP1A3):c.2456G>A (p.Ser819Asn) rs2075088473
NM_152296.5(ATP1A3):c.2461A>C (p.Ile821Leu) rs2145947547
NM_152296.5(ATP1A3):c.2491A>T (p.Thr831Ser)
NM_152296.5(ATP1A3):c.24G>T (p.Lys8Asn)
NM_152296.5(ATP1A3):c.2509G>A (p.Glu837Lys) rs2075087967
NM_152296.5(ATP1A3):c.2525T>C (p.Met842Thr)
NM_152296.5(ATP1A3):c.2531A>G (p.Tyr844Cys)
NM_152296.5(ATP1A3):c.2533G>A (p.Gly845Arg)
NM_152296.5(ATP1A3):c.2560G>A (p.Gly854Ser) rs2075079968
NM_152296.5(ATP1A3):c.2563_2565del (p.Gly855del) rs2075079909
NM_152296.5(ATP1A3):c.2580T>C (p.Phe860=)
NM_152296.5(ATP1A3):c.2582T>C (p.Val861Ala)
NM_152296.5(ATP1A3):c.2611G>A (p.Gly871Ser)
NM_152296.5(ATP1A3):c.2629C>T (p.Arg877Trp)
NM_152296.5(ATP1A3):c.262G>A (p.Gly88Arg)
NM_152296.5(ATP1A3):c.2647C>A (p.Arg883Ser)
NM_152296.5(ATP1A3):c.2688+6T>C rs2075078801
NM_152296.5(ATP1A3):c.2707G>T (p.Val903Leu)
NM_152296.5(ATP1A3):c.2723G>C (p.Cys908Ser) rs2075072029
NM_152296.5(ATP1A3):c.2746A>T (p.Ile916Phe)
NM_152296.5(ATP1A3):c.2755G>A (p.Val919Ile)
NM_152296.5(ATP1A3):c.2773A>G (p.Ile925Val) rs2145944590
NM_152296.5(ATP1A3):c.2777T>G (p.Ile926Ser) rs2075071439
NM_152296.5(ATP1A3):c.2786C>T (p.Thr929Ile) rs2075071279
NM_152296.5(ATP1A3):c.2789G>A (p.Arg930Gln) rs2145944562
NM_152296.5(ATP1A3):c.2790G>T (p.Arg930=)
NM_152296.5(ATP1A3):c.2798C>T (p.Ser933Leu) rs2145944540
NM_152296.5(ATP1A3):c.2801T>C (p.Val934Ala) rs2075071034
NM_152296.5(ATP1A3):c.2819+14G>A
NM_152296.5(ATP1A3):c.2819+7G>T rs1599704395
NM_152296.5(ATP1A3):c.2829C>G (p.Ile943Met) rs1330371427
NM_152296.5(ATP1A3):c.2845T>C (p.Phe949Leu) rs2145942388
NM_152296.5(ATP1A3):c.2855C>T (p.Thr952Met)
NM_152296.5(ATP1A3):c.2896G>T (p.Val966Leu)
NM_152296.5(ATP1A3):c.2906G>A (p.Arg969His) rs1555858925
NM_152296.5(ATP1A3):c.2908A>C (p.Met970Leu)
NM_152296.5(ATP1A3):c.2922-3C>G
NM_152296.5(ATP1A3):c.2939G>T (p.Cys980Phe)
NM_152296.5(ATP1A3):c.2953_2973del (p.Ser985_Tyr991del)
NM_152296.5(ATP1A3):c.295A>G (p.Ile99Val) rs958239123
NM_152296.5(ATP1A3):c.2962A>G (p.Ile988Val)
NM_152296.5(ATP1A3):c.2969T>C (p.Val990Ala) rs2145941354
NM_152296.5(ATP1A3):c.2971_2976del (p.Tyr991_Asp992del) rs2145941324
NM_152296.5(ATP1A3):c.2972A>T (p.Tyr991Phe)
NM_152296.5(ATP1A3):c.2974G>A (p.Asp992Asn) rs606231447
NM_152296.5(ATP1A3):c.2974G>C (p.Asp992His) rs606231447
NM_152296.5(ATP1A3):c.2977_2994del (p.Glu993_Ile998del)
NM_152296.5(ATP1A3):c.2980A>G (p.Ile994Val)
NM_152296.5(ATP1A3):c.2983C>T (p.Arg995Cys)
NM_152296.5(ATP1A3):c.2996T>C (p.Leu999Pro) rs2145941265
NM_152296.5(ATP1A3):c.2998C>T (p.Arg1000Cys) rs782778986
NM_152296.5(ATP1A3):c.3008C>T (p.Pro1003Leu) rs2075053042
NM_152296.5(ATP1A3):c.3011G>C (p.Gly1004Ala) rs782204932
NM_152296.5(ATP1A3):c.3019G>A (p.Val1007Met)
NM_152296.5(ATP1A3):c.3022G>A (p.Glu1008Lys)
NM_152296.5(ATP1A3):c.3027G>T (p.Lys1009Asn)
NM_152296.5(ATP1A3):c.326C>T (p.Ala109Val) rs1568866568
NM_152296.5(ATP1A3):c.358-7C>G rs1555865427
NM_152296.5(ATP1A3):c.36GAA[1] (p.Lys13del)
NM_152296.5(ATP1A3):c.376_387del (p.Leu126_Val129del) rs2145980132
NM_152296.5(ATP1A3):c.388G>T (p.Val130Leu) rs1555865397
NM_152296.5(ATP1A3):c.410_412del (p.Ser137del) rs1555865385
NM_152296.5(ATP1A3):c.42C>G (p.Asn14Lys)
NM_152296.5(ATP1A3):c.46G>A (p.Gly16Ser) rs559227917
NM_152296.5(ATP1A3):c.471+3G>A
NM_152296.5(ATP1A3):c.488G>A (p.Arg163Gln)
NM_152296.5(ATP1A3):c.54G>C (p.Glu18Asp) rs541121307
NM_152296.5(ATP1A3):c.551A>G (p.Lys184Arg)
NM_152296.5(ATP1A3):c.55C>A (p.Arg19Ser)
NM_152296.5(ATP1A3):c.569C>T (p.Pro190Leu) rs1599723609
NM_152296.5(ATP1A3):c.571G>T (p.Ala191Ser) rs1568865274
NM_152296.5(ATP1A3):c.58C>T (p.Arg20Trp)
NM_152296.5(ATP1A3):c.597C>A (p.His199Gln)
NM_152296.5(ATP1A3):c.607-3C>T rs886054475
NM_152296.5(ATP1A3):c.633A>T (p.Glu211Asp)
NM_152296.5(ATP1A3):c.637G>A (p.Glu213Lys)
NM_152296.5(ATP1A3):c.665_666delinsTG (p.Thr222Met) rs2145978673
NM_152296.5(ATP1A3):c.688C>T (p.Arg230Trp)
NM_152296.5(ATP1A3):c.7-13C>T
NM_152296.5(ATP1A3):c.7-5C>T
NM_152296.5(ATP1A3):c.709A>G (p.Thr237Ala)
NM_152296.5(ATP1A3):c.719T>C (p.Val240Ala) rs2075276205
NM_152296.5(ATP1A3):c.724+7C>T rs1213902675
NM_152296.5(ATP1A3):c.725-3C>T
NM_152296.5(ATP1A3):c.728C>T (p.Thr243Met) rs2075274884
NM_152296.5(ATP1A3):c.760C>T (p.Arg254Cys)
NM_152296.5(ATP1A3):c.761G>A (p.Arg254His) rs1315342682
NM_152296.5(ATP1A3):c.775C>T (p.Arg259Cys) rs2145978147
NM_152296.5(ATP1A3):c.793T>A (p.Ser265Thr)
NM_152296.5(ATP1A3):c.797G>T (p.Gly266Val)
NM_152296.5(ATP1A3):c.809G>A (p.Gly270Asp) rs1555864875
NM_152296.5(ATP1A3):c.838C>T (p.His280Tyr) rs2075273663
NM_152296.5(ATP1A3):c.841T>G (p.Phe281Val) rs2145977959
NM_152296.5(ATP1A3):c.859G>A (p.Gly287Ser)
NM_152296.5(ATP1A3):c.859G>T (p.Gly287Cys)
NM_152296.5(ATP1A3):c.862G>A (p.Val288Met)
NM_152296.5(ATP1A3):c.886TTC[1] (p.Phe297del) rs1555864827
NM_152296.5(ATP1A3):c.893T>C (p.Ile298Thr) rs2075272973
NM_152296.5(ATP1A3):c.8A>G (p.Asp3Gly)
NM_152296.5(ATP1A3):c.902T>G (p.Leu301Arg)
NM_152296.5(ATP1A3):c.910G>A (p.Gly304Arg) rs1032312899
NM_152296.5(ATP1A3):c.92T>C (p.Met31Thr)
NM_152296.5(ATP1A3):c.93+4A>G rs782545260
NM_152296.5(ATP1A3):c.962A>G (p.Asn321Ser)
NM_152296.5(ATP1A3):c.962A>T (p.Asn321Ile) rs1176093601
NM_152296.5(ATP1A3):c.968C>T (p.Pro323Leu) rs1085307933
NM_152296.5(ATP1A3):c.992C>T (p.Thr331Ile) rs2075272037

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