ClinVar Miner

List of variants reported as uncertain significance for Dystonia 12 by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 267
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_152296.5(ATP1A3):c.2616C>A (p.Asn872Lys) rs782057287 0.00010
NM_152296.5(ATP1A3):c.93+5G>A rs372694213 0.00010
NM_152296.5(ATP1A3):c.191G>A (p.Arg64Gln) rs201573515 0.00006
NM_152296.5(ATP1A3):c.739G>A (p.Val247Met) rs782227665 0.00006
NM_152296.5(ATP1A3):c.1924G>A (p.Val642Ile) rs201391210 0.00005
NM_152296.5(ATP1A3):c.1520G>A (p.Arg507His) rs782370873 0.00003
NM_152296.5(ATP1A3):c.3014G>A (p.Gly1005Asp) rs1428514255 0.00003
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.2492C>T (p.Thr831Met) rs782674903 0.00002
NM_152296.5(ATP1A3):c.251G>A (p.Arg84Gln) rs782194114 0.00002
NM_152296.5(ATP1A3):c.2896G>A (p.Val966Met) rs782665893 0.00002
NM_152296.5(ATP1A3):c.2907C>T (p.Arg969=) rs782611500 0.00002
NM_152296.5(ATP1A3):c.3011G>T (p.Gly1004Val) rs782204932 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.1261G>A (p.Ala421Thr) rs782154735 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.1333G>T (p.Ala445Ser) rs1555863376 0.00001
NM_152296.5(ATP1A3):c.1472A>G (p.Asn491Ser) rs782775696 0.00001
NM_152296.5(ATP1A3):c.1474C>G (p.Arg492Gly) rs1254049182 0.00001
NM_152296.5(ATP1A3):c.1519C>T (p.Arg507Cys) rs749776123 0.00001
NM_152296.5(ATP1A3):c.1563C>A (p.Asp521Glu) rs368551273 0.00001
NM_152296.5(ATP1A3):c.1654G>C (p.Glu552Gln) rs367904817 0.00001
NM_152296.5(ATP1A3):c.1705A>G (p.Thr569Ala) rs1555862136 0.00001
NM_152296.5(ATP1A3):c.1710G>A (p.Thr570=) rs781840505 0.00001
NM_152296.5(ATP1A3):c.1839G>A (p.Thr613=) rs376852509 0.00001
NM_152296.5(ATP1A3):c.1906G>A (p.Ala636Thr) rs782744167 0.00001
NM_152296.5(ATP1A3):c.190C>T (p.Arg64Trp) rs1203339638 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.1973C>T (p.Thr658Ile) rs1241113172 0.00001
NM_152296.5(ATP1A3):c.2009A>G (p.Glu670Gly) rs2075172328 0.00001
NM_152296.5(ATP1A3):c.2171T>C (p.Met724Thr) rs1329568831 0.00001
NM_152296.5(ATP1A3):c.274A>G (p.Ile92Val) rs933392084 0.00001
NM_152296.5(ATP1A3):c.2887G>A (p.Gly963Ser) rs200582951 0.00001
NM_152296.5(ATP1A3):c.2968G>A (p.Val990Ile) rs781786336 0.00001
NM_152296.5(ATP1A3):c.3013+10C>G rs782023293 0.00001
NM_152296.5(ATP1A3):c.358-6C>T rs1395827738 0.00001
NM_152296.5(ATP1A3):c.598G>A (p.Gly200Ser) rs1555865238 0.00001
NM_152296.5(ATP1A3):c.658G>A (p.Asp220Asn) rs1396898460 0.00001
NC_000019.10:g.(?_41966917)_(41978818_?)dup
NC_000019.9:g.(?_42482078)_(42498228_?)dup
NC_000019.9:g.(?_42489996)_(42492734_?)dup
NM_152296.5(ATP1A3):c.1012G>A (p.Ala338Thr) rs2145972624
NM_152296.5(ATP1A3):c.1013C>A (p.Ala338Asp) rs2075238567
NM_152296.5(ATP1A3):c.1018C>T (p.Arg340Cys)
NM_152296.5(ATP1A3):c.1050C>A (p.Asn350Lys)
NM_152296.5(ATP1A3):c.1073G>C (p.Gly358Ala) rs1555863693
NM_152296.5(ATP1A3):c.1096G>A (p.Asp366Asn) rs2145972473
NM_152296.5(ATP1A3):c.1103C>T (p.Thr368Ile) rs1599719492
NM_152296.5(ATP1A3):c.1111C>G (p.Leu371Val)
NM_152296.5(ATP1A3):c.1124G>A (p.Arg375His) rs200891944
NM_152296.5(ATP1A3):c.1133T>C (p.Val378Ala) rs2145972381
NM_152296.5(ATP1A3):c.113T>C (p.Val38Ala) rs886044790
NM_152296.5(ATP1A3):c.1164C>A (p.His388Gln) rs201446077
NM_152296.5(ATP1A3):c.1186C>G (p.Gln396Glu)
NM_152296.5(ATP1A3):c.1192+3G>C
NM_152296.5(ATP1A3):c.1207A>G (p.Lys403Glu)
NM_152296.5(ATP1A3):c.1222T>C (p.Trp408Arg)
NM_152296.5(ATP1A3):c.1232T>C (p.Leu411Pro) rs1568862410
NM_152296.5(ATP1A3):c.1238A>G (p.His413Arg)
NM_152296.5(ATP1A3):c.1243G>C (p.Ala415Pro)
NM_152296.5(ATP1A3):c.1269C>T (p.Phe423=)
NM_152296.5(ATP1A3):c.126C>T (p.Cys42=)
NM_152296.5(ATP1A3):c.1279C>G (p.Gln427Glu) rs2075234284
NM_152296.5(ATP1A3):c.127C>T (p.Arg43Trp)
NM_152296.5(ATP1A3):c.1288A>G (p.Ile430Val) rs1555863472
NM_152296.5(ATP1A3):c.1290C>G (p.Ile430Met)
NM_152296.5(ATP1A3):c.1304G>A (p.Arg435Lys)
NM_152296.5(ATP1A3):c.1322C>T (p.Ala441Val) rs2075232659
NM_152296.5(ATP1A3):c.1336C>G (p.Leu446Val) rs2075232387
NM_152296.5(ATP1A3):c.1351G>A (p.Glu451Lys)
NM_152296.5(ATP1A3):c.1357T>G (p.Ser453Ala) rs1480822980
NM_152296.5(ATP1A3):c.1369G>C (p.Val457Leu) rs2145971610
NM_152296.5(ATP1A3):c.13A>G (p.Lys5Glu) rs2145984238
NM_152296.5(ATP1A3):c.1437+4C>T rs2145971500
NM_152296.5(ATP1A3):c.1437+5T>A
NM_152296.5(ATP1A3):c.1454C>T (p.Thr485Ile) rs1555862366
NM_152296.5(ATP1A3):c.1456G>A (p.Glu486Lys) rs1599716048
NM_152296.5(ATP1A3):c.1462C>T (p.Pro488Ser)
NM_152296.5(ATP1A3):c.1466A>G (p.Asn489Ser) rs2075199183
NM_152296.5(ATP1A3):c.1468G>A (p.Asp490Asn)
NM_152296.5(ATP1A3):c.1491G>C (p.Met497Ile) rs2075198787
NM_152296.5(ATP1A3):c.1495G>A (p.Gly499Ser) rs2145966073
NM_152296.5(ATP1A3):c.1499C>G (p.Ala500Gly)
NM_152296.5(ATP1A3):c.1525T>G (p.Ser509Ala)
NM_152296.5(ATP1A3):c.1538T>A (p.Leu513Gln)
NM_152296.5(ATP1A3):c.1541A>C (p.Gln514Pro) rs2145965993
NM_152296.5(ATP1A3):c.1542G>C (p.Gln514His)
NM_152296.5(ATP1A3):c.1549G>C (p.Glu517Gln) rs782583311
NM_152296.5(ATP1A3):c.1552C>G (p.Gln518Glu)
NM_152296.5(ATP1A3):c.1555C>A (p.Pro519Thr)
NM_152296.5(ATP1A3):c.1564G>A (p.Glu522Lys) rs782769181
NM_152296.5(ATP1A3):c.1609G>A (p.Gly537Ser) rs2145965881
NM_152296.5(ATP1A3):c.1621C>T (p.Arg541Cys) rs1555862292
NM_152296.5(ATP1A3):c.1624G>T (p.Val542Leu)
NM_152296.5(ATP1A3):c.1629T>C (p.Leu543=)
NM_152296.5(ATP1A3):c.1630+17C>T
NM_152296.5(ATP1A3):c.1630+4C>T
NM_152296.5(ATP1A3):c.1651C>T (p.Pro551Ser) rs2075193911
NM_152296.5(ATP1A3):c.1657G>A (p.Glu553Lys) rs2075193714
NM_152296.5(ATP1A3):c.1672G>A (p.Gly558Ser)
NM_152296.5(ATP1A3):c.1673G>A (p.Gly558Asp) rs2075193579
NM_152296.5(ATP1A3):c.1716C>G (p.Asn572Lys) rs782017635
NM_152296.5(ATP1A3):c.1747G>A (p.Asp583Asn) rs2145964907
NM_152296.5(ATP1A3):c.1775C>A (p.Ala592Glu) rs1599715351
NM_152296.5(ATP1A3):c.1775C>T (p.Ala592Val) rs1599715351
NM_152296.5(ATP1A3):c.1789C>T (p.Arg597Cys) rs2075192084
NM_152296.5(ATP1A3):c.1795G>A (p.Ala599Thr) rs1057519113
NM_152296.5(ATP1A3):c.1795G>C (p.Ala599Pro)
NM_152296.5(ATP1A3):c.1801A>T (p.Ile601Phe) rs1599715325
NM_152296.5(ATP1A3):c.1820C>T (p.Thr607Ile) rs2145964580
NM_152296.5(ATP1A3):c.1825G>A (p.Asp609Asn) rs2075190697
NM_152296.5(ATP1A3):c.1843A>G (p.Lys615Glu)
NM_152296.5(ATP1A3):c.1853C>A (p.Ala618Asp)
NM_152296.5(ATP1A3):c.1853C>T (p.Ala618Val)
NM_152296.5(ATP1A3):c.1884C>A (p.Asn628Lys) rs144130986
NM_152296.5(ATP1A3):c.1906G>T (p.Ala636Ser)
NM_152296.5(ATP1A3):c.1928G>A (p.Ser643Asn) rs2145964356
NM_152296.5(ATP1A3):c.1928G>C (p.Ser643Thr)
NM_152296.5(ATP1A3):c.1931A>T (p.Gln644Leu) rs1060500992
NM_152296.5(ATP1A3):c.1932G>C (p.Gln644His)
NM_152296.5(ATP1A3):c.1944-16T>A
NM_152296.5(ATP1A3):c.1954G>C (p.Ala652Pro) rs2075173086
NM_152296.5(ATP1A3):c.196G>A (p.Gly66Arg) rs2145983320
NM_152296.5(ATP1A3):c.1975G>T (p.Asp659Tyr) rs375193034
NM_152296.5(ATP1A3):c.2027C>T (p.Thr676Ile)
NM_152296.5(ATP1A3):c.2035G>A (p.Val679Ile) rs781854249
NM_152296.5(ATP1A3):c.2035G>T (p.Val679Phe) rs781854249
NM_152296.5(ATP1A3):c.2036T>C (p.Val679Ala)
NM_152296.5(ATP1A3):c.2094G>A (p.Gln698=) rs782060744
NM_152296.5(ATP1A3):c.2095-3C>T rs782736392
NM_152296.5(ATP1A3):c.2096G>A (p.Gly699Asp) rs2075159832
NM_152296.5(ATP1A3):c.2122G>A (p.Gly708Ser) rs782288524
NM_152296.5(ATP1A3):c.2131G>A (p.Asp711Asn)
NM_152296.5(ATP1A3):c.2140G>A (p.Ala714Thr) rs2145959562
NM_152296.5(ATP1A3):c.2191G>A (p.Val731Ile) rs1131691813
NM_152296.5(ATP1A3):c.2203G>A (p.Ala735Thr) rs2075158274
NM_152296.5(ATP1A3):c.2227G>A (p.Asp743Asn) rs1555860790
NM_152296.5(ATP1A3):c.2227G>T (p.Asp743Tyr)
NM_152296.5(ATP1A3):c.2232C>A (p.Asn744Lys)
NM_152296.5(ATP1A3):c.2240C>A (p.Ser747Tyr)
NM_152296.5(ATP1A3):c.2245G>A (p.Val749Ile) rs2075157919
NM_152296.5(ATP1A3):c.2251G>A (p.Gly751Arg) rs1599712463
NM_152296.5(ATP1A3):c.2258A>G (p.Glu753Gly)
NM_152296.5(ATP1A3):c.227C>T (p.Thr76Ile) rs2145983246
NM_152296.5(ATP1A3):c.2309T>G (p.Leu770Arg)
NM_152296.5(ATP1A3):c.2354T>A (p.Met785Lys) rs2075091235
NM_152296.5(ATP1A3):c.2366C>T (p.Pro789Leu)
NM_152296.5(ATP1A3):c.2371C>T (p.Pro791Ser) rs1599706459
NM_152296.5(ATP1A3):c.2393T>C (p.Leu798Pro) rs1568854359
NM_152296.5(ATP1A3):c.2403T>A (p.Asp801Glu) rs1568854338
NM_152296.5(ATP1A3):c.2419G>A (p.Val807Ile)
NM_152296.5(ATP1A3):c.2434C>G (p.Leu812Val)
NM_152296.5(ATP1A3):c.2438C>T (p.Ala813Val)
NM_152296.5(ATP1A3):c.2447C>G (p.Ala816Gly)
NM_152296.5(ATP1A3):c.2456G>A (p.Ser819Asn) rs2075088473
NM_152296.5(ATP1A3):c.2461A>C (p.Ile821Leu) rs2145947547
NM_152296.5(ATP1A3):c.2491A>T (p.Thr831Ser)
NM_152296.5(ATP1A3):c.24G>T (p.Lys8Asn)
NM_152296.5(ATP1A3):c.2509G>A (p.Glu837Lys) rs2075087967
NM_152296.5(ATP1A3):c.2525T>C (p.Met842Thr)
NM_152296.5(ATP1A3):c.2531A>G (p.Tyr844Cys)
NM_152296.5(ATP1A3):c.2533G>A (p.Gly845Arg)
NM_152296.5(ATP1A3):c.2560G>A (p.Gly854Ser) rs2075079968
NM_152296.5(ATP1A3):c.2563_2565del (p.Gly855del) rs2075079909
NM_152296.5(ATP1A3):c.2580T>C (p.Phe860=)
NM_152296.5(ATP1A3):c.2582T>C (p.Val861Ala)
NM_152296.5(ATP1A3):c.2611G>A (p.Gly871Ser)
NM_152296.5(ATP1A3):c.2629C>T (p.Arg877Trp)
NM_152296.5(ATP1A3):c.262G>A (p.Gly88Arg)
NM_152296.5(ATP1A3):c.2647C>A (p.Arg883Ser)
NM_152296.5(ATP1A3):c.2688+6T>C rs2075078801
NM_152296.5(ATP1A3):c.2707G>T (p.Val903Leu)
NM_152296.5(ATP1A3):c.2723G>C (p.Cys908Ser) rs2075072029
NM_152296.5(ATP1A3):c.2746A>T (p.Ile916Phe)
NM_152296.5(ATP1A3):c.2755G>A (p.Val919Ile)
NM_152296.5(ATP1A3):c.2773A>G (p.Ile925Val) rs2145944590
NM_152296.5(ATP1A3):c.2777T>G (p.Ile926Ser) rs2075071439
NM_152296.5(ATP1A3):c.2786C>T (p.Thr929Ile) rs2075071279
NM_152296.5(ATP1A3):c.2789G>A (p.Arg930Gln) rs2145944562
NM_152296.5(ATP1A3):c.2790G>T (p.Arg930=)
NM_152296.5(ATP1A3):c.2798C>T (p.Ser933Leu) rs2145944540
NM_152296.5(ATP1A3):c.2801T>C (p.Val934Ala) rs2075071034
NM_152296.5(ATP1A3):c.2819+14G>A
NM_152296.5(ATP1A3):c.2819+7G>T rs1599704395
NM_152296.5(ATP1A3):c.2829C>G (p.Ile943Met) rs1330371427
NM_152296.5(ATP1A3):c.2845T>C (p.Phe949Leu) rs2145942388
NM_152296.5(ATP1A3):c.2855C>T (p.Thr952Met)
NM_152296.5(ATP1A3):c.2896G>T (p.Val966Leu)
NM_152296.5(ATP1A3):c.2906G>A (p.Arg969His) rs1555858925
NM_152296.5(ATP1A3):c.2908A>C (p.Met970Leu)
NM_152296.5(ATP1A3):c.2922-3C>G
NM_152296.5(ATP1A3):c.2939G>T (p.Cys980Phe)
NM_152296.5(ATP1A3):c.2953_2973del (p.Ser985_Tyr991del)
NM_152296.5(ATP1A3):c.295A>G (p.Ile99Val) rs958239123
NM_152296.5(ATP1A3):c.2962A>G (p.Ile988Val)
NM_152296.5(ATP1A3):c.2969T>C (p.Val990Ala) rs2145941354
NM_152296.5(ATP1A3):c.2971_2976del (p.Tyr991_Asp992del) rs2145941324
NM_152296.5(ATP1A3):c.2972A>T (p.Tyr991Phe)
NM_152296.5(ATP1A3):c.2974G>A (p.Asp992Asn) rs606231447
NM_152296.5(ATP1A3):c.2974G>C (p.Asp992His) rs606231447
NM_152296.5(ATP1A3):c.2977_2994del (p.Glu993_Ile998del)
NM_152296.5(ATP1A3):c.2980A>G (p.Ile994Val)
NM_152296.5(ATP1A3):c.2983C>T (p.Arg995Cys)
NM_152296.5(ATP1A3):c.2996T>C (p.Leu999Pro) rs2145941265
NM_152296.5(ATP1A3):c.2998C>T (p.Arg1000Cys) rs782778986
NM_152296.5(ATP1A3):c.3008C>T (p.Pro1003Leu) rs2075053042
NM_152296.5(ATP1A3):c.3011G>C (p.Gly1004Ala) rs782204932
NM_152296.5(ATP1A3):c.3019G>A (p.Val1007Met)
NM_152296.5(ATP1A3):c.3022G>A (p.Glu1008Lys)
NM_152296.5(ATP1A3):c.3027G>T (p.Lys1009Asn)
NM_152296.5(ATP1A3):c.326C>T (p.Ala109Val) rs1568866568
NM_152296.5(ATP1A3):c.358-7C>G rs1555865427
NM_152296.5(ATP1A3):c.36GAA[1] (p.Lys13del)
NM_152296.5(ATP1A3):c.376_387del (p.Leu126_Val129del) rs2145980132
NM_152296.5(ATP1A3):c.388G>T (p.Val130Leu) rs1555865397
NM_152296.5(ATP1A3):c.410_412del (p.Ser137del) rs1555865385
NM_152296.5(ATP1A3):c.42C>G (p.Asn14Lys)
NM_152296.5(ATP1A3):c.46G>A (p.Gly16Ser) rs559227917
NM_152296.5(ATP1A3):c.471+3G>A
NM_152296.5(ATP1A3):c.488G>A (p.Arg163Gln)
NM_152296.5(ATP1A3):c.4G>C (p.Gly2Arg) rs2145995411
NM_152296.5(ATP1A3):c.54G>C (p.Glu18Asp) rs541121307
NM_152296.5(ATP1A3):c.551A>G (p.Lys184Arg)
NM_152296.5(ATP1A3):c.55C>A (p.Arg19Ser)
NM_152296.5(ATP1A3):c.569C>T (p.Pro190Leu) rs1599723609
NM_152296.5(ATP1A3):c.571G>T (p.Ala191Ser) rs1568865274
NM_152296.5(ATP1A3):c.58C>T (p.Arg20Trp)
NM_152296.5(ATP1A3):c.597C>A (p.His199Gln)
NM_152296.5(ATP1A3):c.607-3C>T rs886054475
NM_152296.5(ATP1A3):c.633A>T (p.Glu211Asp)
NM_152296.5(ATP1A3):c.637G>A (p.Glu213Lys)
NM_152296.5(ATP1A3):c.665_666delinsTG (p.Thr222Met) rs2145978673
NM_152296.5(ATP1A3):c.688C>T (p.Arg230Trp)
NM_152296.5(ATP1A3):c.6G>A (p.Gly2=)
NM_152296.5(ATP1A3):c.7-13C>T
NM_152296.5(ATP1A3):c.7-5C>T
NM_152296.5(ATP1A3):c.709A>G (p.Thr237Ala)
NM_152296.5(ATP1A3):c.719T>C (p.Val240Ala) rs2075276205
NM_152296.5(ATP1A3):c.724+7C>T rs1213902675
NM_152296.5(ATP1A3):c.725-3C>T
NM_152296.5(ATP1A3):c.728C>T (p.Thr243Met) rs2075274884
NM_152296.5(ATP1A3):c.760C>T (p.Arg254Cys)
NM_152296.5(ATP1A3):c.761G>A (p.Arg254His) rs1315342682
NM_152296.5(ATP1A3):c.775C>T (p.Arg259Cys) rs2145978147
NM_152296.5(ATP1A3):c.793T>A (p.Ser265Thr)
NM_152296.5(ATP1A3):c.797G>T (p.Gly266Val)
NM_152296.5(ATP1A3):c.809G>A (p.Gly270Asp) rs1555864875
NM_152296.5(ATP1A3):c.838C>T (p.His280Tyr) rs2075273663
NM_152296.5(ATP1A3):c.841T>G (p.Phe281Val) rs2145977959
NM_152296.5(ATP1A3):c.859G>A (p.Gly287Ser)
NM_152296.5(ATP1A3):c.859G>T (p.Gly287Cys)
NM_152296.5(ATP1A3):c.862G>A (p.Val288Met)
NM_152296.5(ATP1A3):c.886TTC[1] (p.Phe297del) rs1555864827
NM_152296.5(ATP1A3):c.893T>C (p.Ile298Thr) rs2075272973
NM_152296.5(ATP1A3):c.8A>G (p.Asp3Gly)
NM_152296.5(ATP1A3):c.902T>G (p.Leu301Arg)
NM_152296.5(ATP1A3):c.910G>A (p.Gly304Arg) rs1032312899
NM_152296.5(ATP1A3):c.92T>C (p.Met31Thr)
NM_152296.5(ATP1A3):c.93+4A>G rs782545260
NM_152296.5(ATP1A3):c.962A>G (p.Asn321Ser)
NM_152296.5(ATP1A3):c.962A>T (p.Asn321Ile) rs1176093601
NM_152296.5(ATP1A3):c.968C>T (p.Pro323Leu) rs1085307933
NM_152296.5(ATP1A3):c.992C>T (p.Thr331Ile) rs2075272037

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.