ClinVar Miner

List of variants in gene ATP1A3 studied for cerebellar disorder

Included ClinVar conditions (274):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 84
Download table as spreadsheet
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.994-3C>G rs377256877 0.00046
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.1086C>T (p.Thr362=) rs186453162 0.00007
NM_152296.5(ATP1A3):c.1281G>A (p.Gln427=) rs116979196 0.00007
NM_152296.5(ATP1A3):c.1368C>T (p.Ser456=) rs782325595 0.00006
NM_152296.5(ATP1A3):c.2886C>T (p.Pro962=) rs141412861 0.00006
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.2418+18C>T rs369674143 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.741G>C (p.Val247=) rs767234141 0.00002
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.1905C>T (p.Ala635=) rs781822752 0.00001
NM_152296.5(ATP1A3):c.1906G>A (p.Ala636Thr) rs782744167 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.*247C>T rs565195548
NM_152296.5(ATP1A3):c.1192+7G>A rs374826826
NM_152296.5(ATP1A3):c.1402G>T (p.Ala468Ser) rs2075231562
NM_152296.5(ATP1A3):c.1549G>C (p.Glu517Gln) rs782583311
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.2224G>T (p.Asp742Tyr) rs1135401822
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.2312C>T (p.Thr771Ile) rs557939077
NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn)
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.2543G>C (p.Gly848Ala) rs1599705281
NM_152296.5(ATP1A3):c.2552A>G (p.Gln851Arg) rs2145946065
NM_152296.5(ATP1A3):c.265G>T (p.Gly89Cys)
NM_152296.5(ATP1A3):c.2749G>C (p.Val917Leu)
NM_152296.5(ATP1A3):c.2767G>A (p.Asp923Asn) rs267606670
NM_152296.5(ATP1A3):c.2839G>A (p.Gly947Arg) rs398122887
NM_152296.5(ATP1A3):c.2839G>T (p.Gly947Trp) rs398122887
NM_152296.5(ATP1A3):c.2843T>G (p.Leu948Arg)
NM_152296.5(ATP1A3):c.460A>G (p.Met154Val) rs1135401821
NM_152296.5(ATP1A3):c.659A>T (p.Asp220Val)
NM_152296.5(ATP1A3):c.705T>G (p.Phe235Leu) rs782230953
NM_152296.5(ATP1A3):c.808G>A (p.Gly270Ser)
NM_152296.5(ATP1A3):c.909C>T (p.Leu303=) rs782266448
NM_152296.5(ATP1A3):c.967C>T (p.Pro323Ser) rs864309572
NM_152296.5(ATP1A3):c.974G>A (p.Gly325Asp) rs863224847

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.