ClinVar Miner

List of variants in gene ATP1A3 reported as uncertain significance for not provided

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Gene type:
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Total variants: 130
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HGVS dbSNP gnomAD frequency
NM_152296.5(ATP1A3):c.1387C>T (p.Arg463Cys) rs150785666 0.00050
NM_152296.5(ATP1A3):c.994-3C>G rs377256877 0.00046
NM_152296.5(ATP1A3):c.2489G>A (p.Arg830Gln) rs368371895 0.00010
NM_152296.5(ATP1A3):c.93+5G>A rs372694213 0.00010
NM_152296.5(ATP1A3):c.55C>T (p.Arg19Cys) rs782229302 0.00006
NM_152296.5(ATP1A3):c.2885C>A (p.Pro962His) rs145179304 0.00004
NM_152296.5(ATP1A3):c.1296G>T (p.Val432=) rs781928217 0.00002
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.2896G>A (p.Val966Met) rs782665893 0.00002
NM_152296.5(ATP1A3):c.56G>A (p.Arg19His) rs782596240 0.00002
NM_152296.5(ATP1A3):c.6+644G>A rs1363862715 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.128G>A (p.Arg43Gln) rs782453913 0.00001
NM_152296.5(ATP1A3):c.1312G>A (p.Ala438Thr) rs782711218 0.00001
NM_152296.5(ATP1A3):c.1438C>G (p.Leu480Val) rs1555862370 0.00001
NM_152296.5(ATP1A3):c.1472A>G (p.Asn491Ser) rs782775696 0.00001
NM_152296.5(ATP1A3):c.1519C>T (p.Arg507Cys) rs749776123 0.00001
NM_152296.5(ATP1A3):c.153+7C>T rs782082118 0.00001
NM_152296.5(ATP1A3):c.1696G>A (p.Val566Met) rs1408417003 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.2548A>T (p.Ile850Phe) rs1266471637 0.00001
NM_152296.5(ATP1A3):c.2968G>A (p.Val990Ile) rs781786336 0.00001
NM_152296.5(ATP1A3):c.658G>A (p.Asp220Asn) rs1396898460 0.00001
NM_152296.5(ATP1A3):c.662G>A (p.Cys221Tyr) rs782125149 0.00001
NM_152296.5(ATP1A3):c.7-2A>C rs1555866356 0.00001
NM_152296.5(ATP1A3):c.7-43G>A rs782597250 0.00001
NM_152296.5(ATP1A3):c.776G>A (p.Arg259His) rs1599722721 0.00001
NM_152296.5(ATP1A3):c.1103C>G (p.Thr368Arg)
NM_152296.5(ATP1A3):c.1123C>T (p.Arg375Cys) rs1057524683
NM_152296.5(ATP1A3):c.113T>C (p.Val38Ala) rs886044790
NM_152296.5(ATP1A3):c.1193-1G>A
NM_152296.5(ATP1A3):c.1214C>T (p.Ser405Leu) rs368489500
NM_152296.5(ATP1A3):c.1277G>A (p.Gly426Asp)
NM_152296.5(ATP1A3):c.1303-5T>G rs782123500
NM_152296.5(ATP1A3):c.1359C>T (p.Ser453=) rs1555863345
NM_152296.5(ATP1A3):c.1381C>T (p.Arg461Cys)
NM_152296.5(ATP1A3):c.1445T>G (p.Ile482Ser) rs2145966201
NM_152296.5(ATP1A3):c.1449T>G (p.His483Gln)
NM_152296.5(ATP1A3):c.1517A>G (p.Asp506Gly) rs1599715969
NM_152296.5(ATP1A3):c.1620G>A (p.Glu540=) rs1599715899
NM_152296.5(ATP1A3):c.1643A>G (p.Tyr548Cys) rs1555862164
NM_152296.5(ATP1A3):c.1652C>A (p.Pro551His) rs2145965138
NM_152296.5(ATP1A3):c.1670A>G (p.Lys557Arg) rs2145965091
NM_152296.5(ATP1A3):c.1688G>A (p.Cys563Tyr) rs2145965055
NM_152296.5(ATP1A3):c.1709C>T (p.Thr570Met) rs2075193100
NM_152296.5(ATP1A3):c.1713C>A (p.Asp571Glu) rs1555862129
NM_152296.5(ATP1A3):c.1715A>G (p.Asn572Ser) rs2145964972
NM_152296.5(ATP1A3):c.1765G>T (p.Val589Phe) rs1131691436
NM_152296.5(ATP1A3):c.1775C>T (p.Ala592Val) rs1599715351
NM_152296.5(ATP1A3):c.1781G>C (p.Gly594Ala) rs2145964820
NM_152296.5(ATP1A3):c.1795G>A (p.Ala599Thr) rs1057519113
NM_152296.5(ATP1A3):c.1807-9T>C rs2145964616
NM_152296.5(ATP1A3):c.1807G>A (p.Val603Ile)
NM_152296.5(ATP1A3):c.1825G>A (p.Asp609Asn) rs2075190697
NM_152296.5(ATP1A3):c.1871T>A (p.Ile624Asn) rs2145964517
NM_152296.5(ATP1A3):c.1899C>A (p.Asp633Glu) rs1131691915
NM_152296.5(ATP1A3):c.1903G>A (p.Ala635Thr)
NM_152296.5(ATP1A3):c.1932G>A (p.Gln644=) rs1599715062
NM_152296.5(ATP1A3):c.1943G>A (p.Arg648Gln) rs2075189226
NM_152296.5(ATP1A3):c.1972A>G (p.Thr658Ala) rs2145961659
NM_152296.5(ATP1A3):c.1978C>T (p.Leu660Phe)
NM_152296.5(ATP1A3):c.199C>T (p.Pro67Ser)
NM_152296.5(ATP1A3):c.2045G>A (p.Arg682His)
NM_152296.5(ATP1A3):c.2049A>T (p.Thr683=)
NM_152296.5(ATP1A3):c.2095-3C>T rs782736392
NM_152296.5(ATP1A3):c.2140G>A (p.Ala714Thr) rs2145959562
NM_152296.5(ATP1A3):c.2155G>A (p.Asp719Asn)
NM_152296.5(ATP1A3):c.2183G>A (p.Gly728Asp) rs1057522446
NM_152296.5(ATP1A3):c.218C>T (p.Pro73Leu)
NM_152296.5(ATP1A3):c.2194T>C (p.Ser732Pro)
NM_152296.5(ATP1A3):c.219G>T (p.Pro73=)
NM_152296.5(ATP1A3):c.2203G>A (p.Ala735Thr) rs2075158274
NM_152296.5(ATP1A3):c.2302T>C (p.Tyr768His)
NM_152296.5(ATP1A3):c.230C>A (p.Pro77Gln)
NM_152296.5(ATP1A3):c.2324C>T (p.Pro775Leu) rs886041396
NM_152296.5(ATP1A3):c.2395T>C (p.Cys799Arg)
NM_152296.5(ATP1A3):c.2428A>G (p.Ile810Val)
NM_152296.5(ATP1A3):c.2438C>T (p.Ala813Val)
NM_152296.5(ATP1A3):c.2461A>C (p.Ile821Leu) rs2145947547
NM_152296.5(ATP1A3):c.2486C>T (p.Pro829Leu) rs2145947520
NM_152296.5(ATP1A3):c.2491A>T (p.Thr831Ser)
NM_152296.5(ATP1A3):c.250C>T (p.Arg84Trp) rs1555866028
NM_152296.5(ATP1A3):c.2543-6T>A rs1599705282
NM_152296.5(ATP1A3):c.2555C>G (p.Ala852Gly) rs2075080038
NM_152296.5(ATP1A3):c.2560G>A (p.Gly854Ser) rs2075079968
NM_152296.5(ATP1A3):c.2580T>G (p.Phe860Leu)
NM_152296.5(ATP1A3):c.2582T>C (p.Val861Ala)
NM_152296.5(ATP1A3):c.2588T>C (p.Leu863Pro) rs2145945970
NM_152296.5(ATP1A3):c.2620G>A (p.Val874Met)
NM_152296.5(ATP1A3):c.2689-3C>A rs1057524066
NM_152296.5(ATP1A3):c.2747T>G (p.Ile916Ser) rs1555859165
NM_152296.5(ATP1A3):c.2748C>G (p.Ile916Met) rs782390447
NM_152296.5(ATP1A3):c.2788C>T (p.Arg930Trp) rs1555859150
NM_152296.5(ATP1A3):c.2794A>T (p.Asn932Tyr) rs2145944554
NM_152296.5(ATP1A3):c.2801T>C (p.Val934Ala) rs2075071034
NM_152296.5(ATP1A3):c.2921+4A>G
NM_152296.5(ATP1A3):c.2923C>G (p.Pro975Ala) rs782655656
NM_152296.5(ATP1A3):c.2924C>T (p.Pro975Leu)
NM_152296.5(ATP1A3):c.295A>G (p.Ile99Val) rs958239123
NM_152296.5(ATP1A3):c.2960T>C (p.Leu987Pro) rs2145941381
NM_152296.5(ATP1A3):c.2974G>A (p.Asp992Asn) rs606231447
NM_152296.5(ATP1A3):c.2975A>G (p.Asp992Gly) rs2145941332
NM_152296.5(ATP1A3):c.2977G>A (p.Glu993Lys)
NM_152296.5(ATP1A3):c.2983C>T (p.Arg995Cys)
NM_152296.5(ATP1A3):c.2989C>G (p.Leu997Val)
NM_152296.5(ATP1A3):c.2996T>C (p.Leu999Pro) rs2145941265
NM_152296.5(ATP1A3):c.29C>A (p.Ser10Ter)
NM_152296.5(ATP1A3):c.326C>T (p.Ala109Val) rs1568866568
NM_152296.5(ATP1A3):c.38A>C (p.Lys13Thr)
NM_152296.5(ATP1A3):c.409T>A (p.Ser137Thr)
NM_152296.5(ATP1A3):c.449C>A (p.Ser150Tyr)
NM_152296.5(ATP1A3):c.461T>C (p.Met154Thr) rs1568865452
NM_152296.5(ATP1A3):c.487C>T (p.Arg163Trp)
NM_152296.5(ATP1A3):c.535del (p.Asp179fs)
NM_152296.5(ATP1A3):c.569C>T (p.Pro190Leu) rs1599723609
NM_152296.5(ATP1A3):c.56G>C (p.Arg19Pro)
NM_152296.5(ATP1A3):c.580C>T (p.Arg194Trp) rs1246646193
NM_152296.5(ATP1A3):c.603C>T (p.Cys201=)
NM_152296.5(ATP1A3):c.652T>A (p.Ser218Thr)
NM_152296.5(ATP1A3):c.659A>C (p.Asp220Ala) rs2145978691
NM_152296.5(ATP1A3):c.7-5C>G rs782717626
NM_152296.5(ATP1A3):c.719T>C (p.Val240Ala) rs2075276205
NM_152296.5(ATP1A3):c.725G>T (p.Gly242Val)
NM_152296.5(ATP1A3):c.757G>A (p.Asp253Asn) rs1057523788
NM_152296.5(ATP1A3):c.76AAG[1] (p.Lys27del)
NM_152296.5(ATP1A3):c.907C>A (p.Leu303Ile)
NM_152296.5(ATP1A3):c.994-2A>G rs2145972666

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