ClinVar Miner

List of variants in gene ATP1A3 studied for alternating hemiplegia of childhood

Included ClinVar conditions (11):
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Gene type:
ClinVar version:
Total variants: 135
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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_152296.5(ATP1A3):c.*106T>C rs180885057 0.01288
NM_152296.5(ATP1A3):c.2319T>C (p.Asn773=) rs61733017 0.01238
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_152296.5(ATP1A3):c.2819+20G>A rs148592392 0.00279
NM_152296.5(ATP1A3):c.2334G>A (p.Thr778=) rs145374789 0.00243
NM_152296.5(ATP1A3):c.2921+11C>T rs190570469 0.00230
NM_152296.5(ATP1A3):c.1944-20G>T rs200665663 0.00216
NM_152296.5(ATP1A3):c.154-5C>G rs191645384 0.00188
NM_152296.5(ATP1A3):c.2976C>T (p.Asp992=) rs146199765 0.00177
NM_152296.5(ATP1A3):c.1943+12A>T rs201197776 0.00146
NM_152296.5(ATP1A3):c.816G>A (p.Thr272=) rs149898088 0.00140
NM_152296.5(ATP1A3):c.357C>T (p.Asn119=) rs143547136 0.00108
NM_152296.5(ATP1A3):c.1260C>T (p.Arg420=) rs113909283 0.00080
NM_152296.5(ATP1A3):c.*315G>A rs571857150 0.00073
NM_152296.5(ATP1A3):c.2838C>T (p.Phe946=) rs141421692 0.00065
NM_152296.5(ATP1A3):c.192G>A (p.Arg64=) rs146053862 0.00061
NM_152296.5(ATP1A3):c.2653G>A (p.Val885Ile) rs149600313 0.00058
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.*236T>C rs199854166 0.00044
NM_152296.5(ATP1A3):c.1503C>T (p.Pro501=) rs143904999 0.00027
NM_152296.5(ATP1A3):c.1192+6C>T rs367771319 0.00026
NM_152296.5(ATP1A3):c.1193-4C>G rs200111818 0.00023
NM_152296.5(ATP1A3):c.1695C>T (p.Asp565=) rs375255226 0.00021
NM_152296.5(ATP1A3):c.2419-7C>T rs187436315 0.00016
NM_152296.5(ATP1A3):c.1500C>T (p.Ala500=) rs146606627 0.00013
NM_152296.5(ATP1A3):c.147T>C (p.Cys49=) rs376960579 0.00011
NM_152296.5(ATP1A3):c.2226C>T (p.Asp742=) rs146600566 0.00011
NM_152296.5(ATP1A3):c.288C>T (p.Ile96=) rs142806181 0.00011
NM_152296.5(ATP1A3):c.2559C>T (p.Leu853=) rs369555293 0.00010
NM_152296.5(ATP1A3):c.1131A>G (p.Thr377=) rs143242360 0.00009
NM_152296.5(ATP1A3):c.1776G>A (p.Ala592=) rs2288507 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_152296.5(ATP1A3):c.1086C>T (p.Thr362=) rs186453162 0.00007
NM_152296.5(ATP1A3):c.1281G>A (p.Gln427=) rs116979196 0.00007
NM_152296.5(ATP1A3):c.*13C>A rs781878302 0.00006
NM_152296.5(ATP1A3):c.1368C>T (p.Ser456=) rs782325595 0.00006
NM_152296.5(ATP1A3):c.2139C>G (p.Pro713=) rs141362710 0.00006
NM_152296.5(ATP1A3):c.2886C>T (p.Pro962=) rs141412861 0.00006
NM_152296.5(ATP1A3):c.55C>T (p.Arg19Cys) rs782229302 0.00006
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_152296.5(ATP1A3):c.1134C>T (p.Val378=) rs180710845 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_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.2418+18C>T rs369674143 0.00003
NM_152296.5(ATP1A3):c.3013+12C>T rs782424595 0.00003
NM_152296.5(ATP1A3):c.1176C>T (p.Thr392=) rs1353417724 0.00002
NM_152296.5(ATP1A3):c.1192+3G>A rs374542368 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+12G>A rs782653272 0.00002
NM_152296.5(ATP1A3):c.2819+3G>A rs782555113 0.00002
NM_152296.5(ATP1A3):c.741G>C (p.Val247=) rs767234141 0.00002
NM_152296.5(ATP1A3):c.1027C>T (p.Arg343Trp) rs782423325 0.00001
NM_152296.5(ATP1A3):c.1080G>A (p.Thr360=) rs370511776 0.00001
NM_152296.5(ATP1A3):c.1218C>T (p.His406=) rs1238469762 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.1906G>A (p.Ala636Thr) rs782744167 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.2968G>A (p.Val990Ile) rs781786336 0.00001
NM_152296.5(ATP1A3):c.363C>T (p.Tyr121=) rs373180830 0.00001
NM_152296.5(ATP1A3):c.384C>G (p.Ala128=) rs782662538 0.00001
NM_152296.5(ATP1A3):c.776G>A (p.Arg259His) rs1599722721 0.00001
NM_152296.5(ATP1A3):c.936C>A (p.Ile312=) rs782140994 0.00001
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.1004C>A (p.Thr335Lys) rs1131691940
NM_152296.5(ATP1A3):c.1011C>T (p.Thr337=) rs782312004
NM_152296.5(ATP1A3):c.1079C>G (p.Thr360Arg)
NM_152296.5(ATP1A3):c.1088T>C (p.Ile363Thr) rs2145972483
NM_152296.5(ATP1A3):c.1090T>C (p.Cys364Arg) rs2075237136
NM_152296.5(ATP1A3):c.1111C>G (p.Leu371Val)
NM_152296.5(ATP1A3):c.1165G>A (p.Glu389Lys) rs1555863623
NM_152296.5(ATP1A3):c.1192+7G>A rs374826826
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.1756C>T (p.Arg586Trp) rs1555862098
NM_152296.5(ATP1A3):c.1801A>R (p.Ile601Xaa)
NM_152296.5(ATP1A3):c.1806+12G>C rs1555862070
NM_152296.5(ATP1A3):c.1825G>T (p.Asp609Tyr)
NM_152296.5(ATP1A3):c.1838C>T (p.Thr613Met)
NM_152296.5(ATP1A3):c.1839G>C (p.Thr613=) rs376852509
NM_152296.5(ATP1A3):c.2116G>A (p.Gly706Arg) rs782175860
NM_152296.5(ATP1A3):c.2136C>T (p.Ser712=) rs2075159123
NM_152296.5(ATP1A3):c.2266C>A (p.Arg756Ser)
NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys) rs1064797245
NM_152296.5(ATP1A3):c.2267G>A (p.Arg756His) rs606231435
NM_152296.5(ATP1A3):c.2318A>G (p.Asn773Ser) rs606231437
NM_152296.5(ATP1A3):c.2330T>A (p.Ile777Asn) rs1599706522
NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn)
NM_152296.5(ATP1A3):c.2401G>C (p.Asp801His) rs80356537
NM_152296.5(ATP1A3):c.2407G>A (p.Gly803Ser) rs2075090666
NM_152296.5(ATP1A3):c.2431T>C (p.Ser811Pro) rs387907282
NM_152296.5(ATP1A3):c.2438C>T (p.Ala813Val)
NM_152296.5(ATP1A3):c.2443G>A (p.Glu815Lys) rs387907281
NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys) rs587777771
NM_152296.5(ATP1A3):c.2512_2516delinsTC (p.Arg838_Leu839delinsSer) rs1057516032
NM_152296.5(ATP1A3):c.2528C>A (p.Ala843Asp)
NM_152296.5(ATP1A3):c.2542+1G>A rs606231441
NM_152296.5(ATP1A3):c.270C>T (p.Phe90=) rs782539594
NM_152296.5(ATP1A3):c.2759A>G (p.Gln920Arg) rs2075071667
NM_152296.5(ATP1A3):c.2767G>A (p.Asp923Asn) rs267606670
NM_152296.5(ATP1A3):c.2767G>T (p.Asp923Tyr) rs267606670
NM_152296.5(ATP1A3):c.2839G>A (p.Gly947Arg) rs398122887
NM_152296.5(ATP1A3):c.2839G>C (p.Gly947Arg) rs398122887
NM_152296.5(ATP1A3):c.2839G>T (p.Gly947Trp) rs398122887
NM_152296.5(ATP1A3):c.2840G>A (p.Gly947Glu) rs886041431
NM_152296.5(ATP1A3):c.385G>A (p.Val129Met) rs1555865401
NM_152296.5(ATP1A3):c.410C>T (p.Ser137Phe) rs542652468
NM_152296.5(ATP1A3):c.607-3C>T rs886054475
NM_152296.5(ATP1A3):c.705T>G (p.Phe235Leu) rs782230953
NM_152296.5(ATP1A3):c.725-6C>T rs782647558
NM_152296.5(ATP1A3):c.821T>A (p.Ile274Asn) rs80356532
NM_152296.5(ATP1A3):c.909C>T (p.Leu303=) rs782266448
NM_152296.5(ATP1A3):c.954C>G (p.Ile318Met) rs529241207
NM_152296.5(ATP1A3):c.991A>C (p.Thr331Pro)
NM_152296.5(ATP1A3):c.998G>A (p.Cys333Tyr)

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