ClinVar Miner

List of variants studied for combined dystonia by Illumina Laboratory Services, Illumina

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 295
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HGVS dbSNP gnomAD frequency
NM_152296.5(ATP1A3):c.666T>G (p.Thr222=) rs2217342 0.93139
NM_152296.5(ATP1A3):c.*39C>G rs919390 0.69962
NM_015488.5(PNKD):c.*902T>C rs1052578 0.43563
NM_015488.5(PNKD):c.*1077G>A rs9076 0.43520
NM_015488.5(PNKD):c.*92C>A rs921970 0.35927
NM_006516.4(SLC2A1):c.-197A>C rs11537640 0.23186
NM_003690.5(PRKRA):c.*313G>A rs3997879 0.22352
NM_003690.5(PRKRA):c.*158A>G rs3997877 0.22348
NM_003690.5(PRKRA):c.685C>T (p.Leu229=) rs62176107 0.22118
NM_006516.4(SLC2A1):c.45C>T (p.Ala15=) rs1385129 0.21537
NM_003690.5(PRKRA):c.*553A>G rs3997881 0.21501
NM_003690.5(PRKRA):c.*198C>T rs3997878 0.21384
NM_003690.5(PRKRA):c.*3C>T rs3997876 0.21371
NM_006516.4(SLC2A1):c.399C>T (p.Cys133=) rs11537641 0.16943
NM_003690.5(PRKRA):c.-24G>A rs62176113 0.15636
NM_003690.5(PRKRA):c.677T>A (p.Ile226Asn) rs77419724 0.13676
NM_015488.5(PNKD):c.*507G>C rs7586140 0.09268
NM_003919.3(SGCE):c.391-3T>C rs17166384 0.08209
NM_003690.5(PRKRA):c.*655T>C rs4533501 0.06663
NM_006516.4(SLC2A1):c.966C>T (p.Val322=) rs2229680 0.06553
NM_015488.5(PNKD):c.486G>A (p.Gly162=) rs34014804 0.06442
NM_003690.5(PRKRA):c.173A>G (p.Asp58Gly) rs61999302 0.05287
NM_006516.4(SLC2A1):c.*1213G>T rs55728431 0.04893
NM_003690.5(PRKRA):c.549T>C (p.Asn183=) rs61746229 0.04819
NM_003690.5(PRKRA):c.1A>C (p.Met1Leu) rs9406386 0.04659
NM_006516.4(SLC2A1):c.1065A>G (p.Leu355=) rs2228490 0.04552
NM_015488.5(PNKD):c.*1193C>T rs76752438 0.04131
NM_015488.5(PNKD):c.652C>A (p.Arg218=) rs34745867 0.02221
NM_003690.5(PRKRA):c.*200G>A rs141995027 0.01989
NM_015488.5(PNKD):c.455G>A (p.Arg152Gln) rs73990423 0.01825
NM_006516.4(SLC2A1):c.-190G>C rs114514007 0.01675
NM_015488.5(PNKD):c.939G>A (p.Arg313=) rs116144189 0.01354
NM_152296.5(ATP1A3):c.*106T>C rs180885057 0.01288
NM_152296.5(ATP1A3):c.2319T>C (p.Asn773=) rs61733017 0.01238
NM_003690.5(PRKRA):c.*159T>C rs115244185 0.01037
NM_015488.5(PNKD):c.*1723T>C rs58320146 0.00937
NM_152296.5(ATP1A3):c.2610C>T (p.Pro870=) rs35272495 0.00802
NM_152296.5(ATP1A3):c.2487G>A (p.Pro829=) rs45606534 0.00759
NM_006516.4(SLC2A1):c.*60C>T rs2229684 0.00754
NM_015488.4(PNKD):c.-105A>T rs183319984 0.00706
NM_003690.5(PRKRA):c.795C>T (p.Ser265=) rs150679361 0.00662
NM_015488.5(PNKD):c.*992C>G rs115429065 0.00623
NM_003919.3(SGCE):c.*101A>G rs193172306 0.00600
NM_015488.5(PNKD):c.*211C>T rs189926206 0.00565
NM_015488.5(PNKD):c.*1665G>A rs145193682 0.00564
NM_006516.4(SLC2A1):c.417C>T (p.Phe139=) rs144538918 0.00517
NM_015488.5(PNKD):c.*451A>G rs148230498 0.00414
NM_003690.5(PRKRA):c.32C>T (p.Pro11Leu) rs62176112 0.00410
NM_006516.4(SLC2A1):c.*1587A>G rs140560514 0.00366
NM_003690.5(PRKRA):c.784+6A>T rs188208530 0.00302
NM_003919.3(SGCE):c.769A>C (p.Thr257Pro) rs116105264 0.00283
NM_152296.5(ATP1A3):c.2334G>A (p.Thr778=) rs145374789 0.00243
NM_015488.5(PNKD):c.*607T>C rs141201996 0.00217
NM_003690.5(PRKRA):c.*31G>A rs372585947 0.00216
NM_006516.4(SLC2A1):c.*1588G>A rs189700252 0.00206
NM_152296.5(ATP1A3):c.154-5C>G rs191645384 0.00188
NM_006516.4(SLC2A1):c.27G>A (p.Thr9=) rs34025424 0.00176
NM_003690.5(PRKRA):c.-104G>A rs545506202 0.00168
NM_006516.4(SLC2A1):c.*626G>A rs6413525 0.00163
NM_152296.5(ATP1A3):c.1943+12A>T rs201197776 0.00146
NM_015488.5(PNKD):c.254G>A (p.Arg85His) rs150402000 0.00140
NM_152296.5(ATP1A3):c.816G>A (p.Thr272=) rs149898088 0.00140
NM_015488.5(PNKD):c.265G>A (p.Gly89Arg) rs147259983 0.00139
NM_152296.5(ATP1A3):c.357C>T (p.Asn119=) rs143547136 0.00108
NM_003919.3(SGCE):c.606A>G (p.Thr202=) rs148979783 0.00105
NM_006516.4(SLC2A1):c.*346G>A rs190760291 0.00104
NM_015488.5(PNKD):c.*1549G>A rs79061826 0.00102
NM_015488.4(PNKD):c.*1821C>T rs142330726 0.00090
NM_006516.4(SLC2A1):c.*571C>T rs6413524 0.00083
NM_006516.4(SLC2A1):c.*22G>A rs2229683 0.00081
NM_006516.4(SLC2A1):c.1170C>T (p.Ile390=) rs2236574 0.00081
NM_015488.5(PNKD):c.*38G>A rs201679687 0.00078
NM_015488.5(PNKD):c.524+13C>T rs150529046 0.00078
NM_152296.5(ATP1A3):c.*315G>A rs571857150 0.00073
NM_006516.4(SLC2A1):c.1372C>A (p.Arg458=) rs13306758 0.00070
NM_015488.5(PNKD):c.466-11C>T rs142473649 0.00070
NM_006516.4(SLC2A1):c.777C>T (p.Ile259=) rs78388808 0.00068
NM_015488.5(PNKD):c.*1139C>G rs547847157 0.00068
NM_006516.4(SLC2A1):c.1437C>T (p.Pro479=) rs146879902 0.00065
NM_152296.5(ATP1A3):c.2838C>T (p.Phe946=) rs141421692 0.00065
NM_015488.5(PNKD):c.352+12C>T rs201092853 0.00064
NM_003690.5(PRKRA):c.-124C>A rs186454714 0.00060
NM_003690.5(PRKRA):c.-125G>A rs190533045 0.00060
NM_015488.5(PNKD):c.*155C>T rs753020574 0.00054
NM_015488.5(PNKD):c.919G>A (p.Glu307Lys) rs139825405 0.00053
NM_003919.2(SGCE):c.-84T>C rs747133401 0.00052
NM_152296.5(ATP1A3):c.1387C>T (p.Arg463Cys) rs150785666 0.00050
NM_152296.5(ATP1A3):c.994-3C>G rs377256877 0.00046
NM_015488.5(PNKD):c.237-9G>A rs371173395 0.00044
NM_152296.5(ATP1A3):c.*236T>C rs199854166 0.00044
NM_003690.5(PRKRA):c.-64C>G rs576729883 0.00041
NM_015488.5(PNKD):c.*1490G>A rs971155594 0.00041
NM_006516.4(SLC2A1):c.*1337A>C rs113441673 0.00038
NM_003919.2(SGCE):c.-97G>A rs529057223 0.00037
NM_003690.5(PRKRA):c.*79G>A rs9678530 0.00036
NM_003919.3(SGCE):c.510T>C (p.Asn170=) rs55853245 0.00036
NM_015488.5(PNKD):c.781+12C>T rs370963150 0.00035
NM_003919.3(SGCE):c.*172T>C rs112954947 0.00033
NM_006516.4(SLC2A1):c.895G>A (p.Glu299Lys) rs148518827 0.00031
NM_015488.5(PNKD):c.24G>A (p.Thr8=) rs371342116 0.00031
NM_003690.5(PRKRA):c.*151A>T rs886055203 0.00026
NM_152296.5(ATP1A3):c.-148T>G rs769525784 0.00026
NM_152296.5(ATP1A3):c.1192+6C>T rs367771319 0.00026
NM_003690.5(PRKRA):c.*265A>C rs886055201 0.00021
NM_152296.5(ATP1A3):c.1695C>T (p.Asp565=) rs375255226 0.00021
NM_015488.5(PNKD):c.323A>G (p.His108Arg) rs142536637 0.00017
NM_003919.3(SGCE):c.975G>A (p.Ser325=) rs145040065 0.00016
NM_152296.5(ATP1A3):c.2419-7C>T rs187436315 0.00016
NM_152296.5(ATP1A3):c.6+3A>G rs369853936 0.00016
NM_003919.3(SGCE):c.391A>G (p.Ile131Val) rs370609227 0.00015
NM_006516.4(SLC2A1):c.*971G>A rs185891628 0.00015
NM_006516.4(SLC2A1):c.138G>C (p.Gln46His) rs149998596 0.00014
NM_006516.4(SLC2A1):c.764A>C (p.Lys255Thr) rs5811 0.00013
NM_152296.5(ATP1A3):c.1500C>T (p.Ala500=) rs146606627 0.00013
NM_006516.4(SLC2A1):c.*1016A>G rs886046334 0.00012
NM_015488.5(PNKD):c.*1118T>A rs762512024 0.00012
NM_015488.5(PNKD):c.959G>A (p.Arg320Gln) rs200815994 0.00012
NM_015488.5(PNKD):c.*868T>C rs998136972 0.00011
NM_015488.5(PNKD):c.466-3C>A rs370929830 0.00011
NM_152296.5(ATP1A3):c.147T>C (p.Cys49=) rs376960579 0.00011
NM_152296.5(ATP1A3):c.288C>T (p.Ile96=) rs142806181 0.00011
NM_006516.4(SLC2A1):c.*587A>T rs748209315 0.00010
NM_006516.4(SLC2A1):c.312C>G (p.Phe104Leu) rs76672402 0.00010
NM_015488.5(PNKD):c.*826G>T rs772338538 0.00010
NM_152296.5(ATP1A3):c.2559C>T (p.Leu853=) rs369555293 0.00010
NM_003690.5(PRKRA):c.-65C>G rs557426364 0.00009
NM_006516.4(SLC2A1):c.*463T>C rs186437621 0.00009
NM_006516.4(SLC2A1):c.*651G>T rs886046337 0.00009
NM_006516.4(SLC2A1):c.*784A>G rs886046335 0.00009
NM_006516.4(SLC2A1):c.-26G>C rs375001117 0.00009
NM_152296.5(ATP1A3):c.2367G>A (p.Pro789=) rs372737275 0.00009
NM_152296.5(ATP1A3):c.607-7C>A rs782819736 0.00009
NM_006516.4(SLC2A1):c.987G>A (p.Glu329=) rs201989024 0.00008
NM_003919.3(SGCE):c.1196C>T (p.Pro399Leu) rs17851923 0.00007
NM_006516.4(SLC2A1):c.*560T>C rs545613558 0.00007
NM_006516.4(SLC2A1):c.*609G>C rs1020397288 0.00007
NM_015488.5(PNKD):c.*1725T>C rs149172912 0.00007
NM_152296.5(ATP1A3):c.1281G>A (p.Gln427=) rs116979196 0.00007
NM_003690.5(PRKRA):c.54T>C (p.Ser18=) rs1235471739 0.00006
NM_003690.5(PRKRA):c.796G>A (p.Ala266Thr) rs148050153 0.00006
NM_003919.3(SGCE):c.1165G>C (p.Val389Leu) rs374697567 0.00006
NM_006516.4(SLC2A1):c.*750T>A rs886046336 0.00006
NM_006516.4(SLC2A1):c.18+12G>T rs587781171 0.00006
NM_015488.5(PNKD):c.*1141G>A rs577960985 0.00006
NM_015488.5(PNKD):c.331A>G (p.Thr111Ala) rs202190131 0.00006
NM_015488.5(PNKD):c.653G>A (p.Arg218Gln) rs746884706 0.00006
NM_015488.5(PNKD):c.785G>A (p.Arg262Gln) rs759669801 0.00006
NM_152296.4(ATP1A3):c.-186G>A rs886054478 0.00006
NM_152296.5(ATP1A3):c.*13C>A rs781878302 0.00006
NM_152296.5(ATP1A3):c.-64A>G rs373531937 0.00006
NM_152296.5(ATP1A3):c.2139C>G (p.Pro713=) rs141362710 0.00006
NM_152296.5(ATP1A3):c.55C>T (p.Arg19Cys) rs782229302 0.00006
NM_003690.5(PRKRA):c.380C>T (p.Pro127Leu) rs75862065 0.00005
NM_006516.4(SLC2A1):c.*368A>C rs946103123 0.00005
NM_006516.4(SLC2A1):c.*413G>A rs543194486 0.00005
NM_015488.5(PNKD):c.559C>T (p.Arg187Trp) rs375550686 0.00005
NM_152296.5(ATP1A3):c.1924G>A (p.Val642Ile) rs201391210 0.00005
NM_152296.5(ATP1A3):c.786C>T (p.Thr262=) rs74581050 0.00005
NM_152296.5(ATP1A3):c.994-4C>G rs373698149 0.00005
NM_003690.5(PRKRA):c.65+10C>T rs535076601 0.00004
NM_003919.3(SGCE):c.712G>C (p.Glu238Gln) rs200035109 0.00004
NM_003919.3(SGCE):c.738G>A (p.Leu246=) rs767137229 0.00004
NM_006516.4(SLC2A1):c.-129G>T rs936174986 0.00004
NM_006516.4(SLC2A1):c.-192G>C rs886046342 0.00004
NM_006516.4(SLC2A1):c.-194G>A rs984267596 0.00004
NM_006516.4(SLC2A1):c.1034C>T (p.Ala345Val) rs769943554 0.00004
NM_006516.4(SLC2A1):c.125A>C (p.Glu42Ala) rs748082803 0.00004
NM_006516.4(SLC2A1):c.653G>A (p.Arg218His) rs374080633 0.00004
NM_006516.4(SLC2A1):c.657C>T (p.Asn219=) rs534113895 0.00004
NM_006516.4(SLC2A1):c.906G>T (p.Gly302=) rs55693364 0.00004
NM_152296.5(ATP1A3):c.1527C>T (p.Ser509=) rs199625170 0.00004
NM_152296.5(ATP1A3):c.1974C>T (p.Thr658=) rs145869619 0.00004
NM_152296.5(ATP1A3):c.2439G>A (p.Ala813=) rs189555627 0.00004
NM_003690.5(PRKRA):c.654G>A (p.Leu218=) rs763093482 0.00003
NM_003690.5(PRKRA):c.784+15T>C rs367606024 0.00003
NM_003919.3(SGCE):c.470C>T (p.Pro157Leu) rs768233445 0.00003
NM_003919.3(SGCE):c.471G>A (p.Pro157=) rs747531940 0.00003
NM_006516.4(SLC2A1):c.*1149C>A rs779668330 0.00003
NM_006516.4(SLC2A1):c.*1246G>A rs886046330 0.00003
NM_006516.4(SLC2A1):c.*1281A>G rs1057515458 0.00003
NM_006516.4(SLC2A1):c.*597G>A rs886046338 0.00003
NM_006516.4(SLC2A1):c.313G>A (p.Val105Met) rs577667739 0.00003
NM_015488.5(PNKD):c.*206C>T rs886055622 0.00003
NM_015488.5(PNKD):c.299C>T (p.Ala100Val) rs374645683 0.00003
NM_015488.5(PNKD):c.302G>A (p.Arg101Gln) rs368934552 0.00003
NM_015488.5(PNKD):c.37C>T (p.Arg13Trp) rs886055619 0.00003
NM_152296.5(ATP1A3):c.*298C>T rs781980860 0.00003
NM_152296.5(ATP1A3):c.1714A>G (p.Asn572Asp) rs782415633 0.00003
NM_152296.5(ATP1A3):c.1806+14T>C rs377372631 0.00003
NM_152296.5(ATP1A3):c.3013+12C>T rs782424595 0.00003
NM_003919.3(SGCE):c.1025G>A (p.Arg342Gln) rs764696852 0.00002
NM_006516.4(SLC2A1):c.*285C>T rs144947295 0.00002
NM_006516.4(SLC2A1):c.*514G>T rs886046339 0.00002
NM_006516.4(SLC2A1):c.1278+9C>G rs550156548 0.00002
NM_006516.4(SLC2A1):c.172C>T (p.Pro58Ser) rs765479065 0.00002
NM_006516.4(SLC2A1):c.668G>A (p.Arg223Gln) rs397514564 0.00002
NM_006516.4(SLC2A1):c.798C>T (p.Pro266=) rs201996220 0.00002
NM_015488.4(PNKD):c.-79C>A rs886055618 0.00002
NM_015488.5(PNKD):c.*1216G>A rs999439159 0.00002
NM_015488.5(PNKD):c.*253C>T rs1456301565 0.00002
NM_015488.5(PNKD):c.1130G>A (p.Arg377Gln) rs148141539 0.00002
NM_015488.5(PNKD):c.341G>A (p.Arg114His) rs781140528 0.00002
NM_015488.5(PNKD):c.597C>T (p.Asp199=) rs139122042 0.00002
NM_152296.5(ATP1A3):c.1605C>T (p.Leu535=) rs148097195 0.00002
NM_152296.5(ATP1A3):c.207A>T (p.Ala69=) rs200616931 0.00002
NM_152296.5(ATP1A3):c.2819+3G>A rs782555113 0.00002
NM_003690.5(PRKRA):c.-117C>T rs886055204 0.00001
NM_003690.5(PRKRA):c.-141C>A rs1395280729 0.00001
NM_003690.5(PRKRA):c.397-3T>C rs200249113 0.00001
NM_003690.5(PRKRA):c.80T>C (p.Ile27Thr) rs780703241 0.00001
NM_003919.3(SGCE):c.19T>C (p.Trp7Arg) rs1271444866 0.00001
NM_003919.3(SGCE):c.556G>A (p.Ala186Thr) rs746585235 0.00001
NM_006516.4(SLC2A1):c.*107G>A rs1643432524 0.00001
NM_006516.4(SLC2A1):c.*1205C>T rs886046331 0.00001
NM_006516.4(SLC2A1):c.*1321T>A rs1222650517 0.00001
NM_006516.4(SLC2A1):c.*775A>G rs779010320 0.00001
NM_006516.4(SLC2A1):c.1062G>A (p.Ala354=) rs748983257 0.00001
NM_006516.4(SLC2A1):c.332G>T (p.Gly111Val) rs1399284513 0.00001
NM_006516.4(SLC2A1):c.680-10G>T rs587784394 0.00001
NM_015488.5(PNKD):c.*1476A>G rs886055623 0.00001
NM_015488.5(PNKD):c.*1569C>T rs1694830978 0.00001
NM_015488.5(PNKD):c.*311G>T rs535683095 0.00001
NM_015488.5(PNKD):c.*33C>T rs766072633 0.00001
NM_015488.5(PNKD):c.*838C>T rs560187472 0.00001
NM_015488.5(PNKD):c.*982C>T rs140903787 0.00001
NM_015488.5(PNKD):c.476A>T (p.Glu159Val) rs758928375 0.00001
NM_152296.5(ATP1A3):c.1080G>A (p.Thr360=) rs370511776 0.00001
NM_152296.5(ATP1A3):c.1303-15C>A rs782749835 0.00001
NM_152296.5(ATP1A3):c.153+7C>T rs782082118 0.00001
NM_152296.5(ATP1A3):c.1905C>T (p.Ala635=) rs781822752 0.00001
NM_152296.5(ATP1A3):c.2009A>G (p.Glu670Gly) rs2075172328 0.00001
NM_152296.5(ATP1A3):c.2307C>T (p.Thr769=) rs886054473 0.00001
NM_152296.5(ATP1A3):c.2418+9T>A rs950336124 0.00001
NM_152296.5(ATP1A3):c.2688+11C>A rs782430886 0.00001
NM_152296.5(ATP1A3):c.363C>T (p.Tyr121=) rs373180830 0.00001
NM_152296.5(ATP1A3):c.936C>A (p.Ile312=) rs782140994 0.00001
NM_003690.5(PRKRA):c.*180C>T rs886055202
NM_003690.5(PRKRA):c.*576G>A rs1696648689
NM_003690.5(PRKRA):c.-11C>T rs767401214
NM_003690.5(PRKRA):c.-133C>G rs80197731
NM_003690.5(PRKRA):c.-14C>T rs181793341
NM_003690.5(PRKRA):c.870C>T (p.Ser290=) rs537898766
NM_003919.2(SGCE):c.-37_-33dupGGGAG rs534632849
NM_003919.3(SGCE):c.1065C>T (p.Asp355=) rs886062520
NM_003919.3(SGCE):c.289C>T (p.Arg97Ter) rs121908489
NM_003919.3(SGCE):c.450_452del (p.Ile150del) rs886062522
NM_003919.3(SGCE):c.536T>C (p.Val179Ala) rs886062521
NM_003919.3(SGCE):c.55G>A (p.Gly19Ser) rs767335346
NM_006516.4(SLC2A1):c.*1079T>G rs1426402573
NM_006516.4(SLC2A1):c.*1081T>A rs886046333
NM_006516.4(SLC2A1):c.*1147G>C rs886046332
NM_006516.4(SLC2A1):c.*1337A>G rs113441673
NM_006516.4(SLC2A1):c.*1564C>T rs1057515570
NM_006516.4(SLC2A1):c.*1611T>C rs1057515457
NM_006516.4(SLC2A1):c.*216C>T rs1643431578
NM_006516.4(SLC2A1):c.*462G>C rs4658
NM_006516.4(SLC2A1):c.*92G>A rs1266657991
NM_006516.4(SLC2A1):c.-202G>C rs1016572946
NM_006516.4(SLC2A1):c.1011C>T (p.His337=) rs2229681
NM_006516.4(SLC2A1):c.132C>T (p.Tyr44=) rs886046341
NM_006516.4(SLC2A1):c.218C>T (p.Ser73Phe) rs1643484697
NM_006516.4(SLC2A1):c.274C>A (p.Arg92=) rs202060209
NM_006516.4(SLC2A1):c.279G>A (p.Arg93=) rs1392755923
NM_006516.4(SLC2A1):c.411A>G (p.Thr137=) rs753500924
NM_006516.4(SLC2A1):c.588G>A (p.Pro196=) rs2229682
NM_006516.4(SLC2A1):c.679+7G>C rs13306757
NM_006516.4(SLC2A1):c.679+7G>T rs13306757
NM_015488.4(PNKD):c.-65G>A rs570619432
NM_015488.5(PNKD):c.*1305A>G rs1694825559
NM_015488.5(PNKD):c.*181G>C rs73088173
NM_015488.5(PNKD):c.*212G>A rs989494170
NM_015488.5(PNKD):c.*679C>T rs1694809581
NM_015488.5(PNKD):c.*680_*681dup rs397775550
NM_015488.5(PNKD):c.1140_1145del (p.Met381_His382del) rs576363906
NM_015488.5(PNKD):c.2T>G (p.Met1Arg) rs775653461
NM_015488.5(PNKD):c.368C>T (p.Pro123Leu) rs1694626257
NM_015488.5(PNKD):c.560G>A (p.Arg187Gln) rs141506076
NM_015488.5(PNKD):c.628C>A (p.His210Asn) rs886055620
NM_015488.5(PNKD):c.781+12C>G rs370963150
NM_145239.3(PRRT2):c.284C>A (p.Ser95Ter)
NM_152296.5(ATP1A3):c.*206T>C rs1197209551
NM_152296.5(ATP1A3):c.*247C>T rs565195548
NM_152296.5(ATP1A3):c.*280T>A rs886054472
NM_152296.5(ATP1A3):c.*99C>G rs1555858636
NM_152296.5(ATP1A3):c.-130GACG[3] rs879996553
NM_152296.5(ATP1A3):c.1011C>T (p.Thr337=) rs782312004
NM_152296.5(ATP1A3):c.1323G>A (p.Ala441=) rs34578730
NM_152296.5(ATP1A3):c.15A>G (p.Lys5=) rs886054476
NM_152296.5(ATP1A3):c.1719C>A (p.Leu573=) rs886054474
NM_152296.5(ATP1A3):c.1806+12G>C rs1555862070
NM_152296.5(ATP1A3):c.2136C>T (p.Ser712=) rs2075159123
NM_152296.5(ATP1A3):c.270C>T (p.Phe90=) rs782539594
NM_152296.5(ATP1A3):c.607-3C>T rs886054475
NM_152296.5(ATP1A3):c.725-6C>T rs782647558
NM_152296.5(ATP1A3):c.909C>T (p.Leu303=) rs782266448

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