ClinVar Miner

List of variants studied for Dystonia 12 by Illumina Laboratory Services, Illumina

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Total variants: 71
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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.2334G>A (p.Thr778=) rs145374789 0.00243
NM_152296.5(ATP1A3):c.154-5C>G rs191645384 0.00188
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.*315G>A rs571857150 0.00073
NM_152296.5(ATP1A3):c.2838C>T (p.Phe946=) rs141421692 0.00065
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.-148T>G rs769525784 0.00026
NM_152296.5(ATP1A3):c.1192+6C>T rs367771319 0.00026
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.6+3A>G rs369853936 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.288C>T (p.Ile96=) rs142806181 0.00011
NM_152296.5(ATP1A3):c.2559C>T (p.Leu853=) rs369555293 0.00010
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.1281G>A (p.Gln427=) rs116979196 0.00007
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_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.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.3013+12C>T rs782424595 0.00003
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_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_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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