ClinVar Miner

List of variants reported as uncertain significance for developmental and epileptic encephalopathy, 34 by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 297
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HGVS dbSNP gnomAD frequency
NM_020708.5(SLC12A5):c.286C>T (p.Arg96Cys) rs145700012 0.00035
NM_020708.5(SLC12A5):c.2376T>C (p.Ile792=) rs201525976 0.00032
NM_020708.5(SLC12A5):c.2776C>T (p.Arg926Trp) rs370818838 0.00023
NM_020708.5(SLC12A5):c.53-3C>T rs367992610 0.00016
NM_020708.5(SLC12A5):c.1237+6G>A rs200873569 0.00011
NM_020708.5(SLC12A5):c.284C>T (p.Pro95Leu) rs780511606 0.00010
NM_020708.5(SLC12A5):c.3260-3C>A rs762852631 0.00009
NM_020708.5(SLC12A5):c.3347C>A (p.Ser1116Tyr) rs150192950 0.00009
NM_020708.5(SLC12A5):c.2787+3G>A rs372923917 0.00008
NM_020708.5(SLC12A5):c.1381G>A (p.Val461Ile) rs201487205 0.00006
NM_020708.5(SLC12A5):c.2210A>G (p.Lys737Arg) rs774596447 0.00006
NM_020708.5(SLC12A5):c.947G>A (p.Arg316Gln) rs144471748 0.00006
NM_020708.5(SLC12A5):c.2375T>A (p.Ile792Asn) rs769820337 0.00005
NM_020708.5(SLC12A5):c.1099G>A (p.Val367Met) rs778801242 0.00004
NM_020708.5(SLC12A5):c.116A>T (p.Glu39Val) rs376521903 0.00004
NM_020708.5(SLC12A5):c.1558C>T (p.Pro520Ser) rs113818080 0.00004
NM_020708.5(SLC12A5):c.2017C>G (p.Gln673Glu) rs766589514 0.00004
NM_020708.5(SLC12A5):c.2338C>T (p.Arg780Cys) rs757395459 0.00004
NM_020708.5(SLC12A5):c.2455G>A (p.Glu819Lys) rs751841577 0.00004
NM_020708.5(SLC12A5):c.2910+3G>A rs758619527 0.00004
NM_020708.5(SLC12A5):c.3067C>G (p.Pro1023Ala) rs146580614 0.00004
NM_020708.5(SLC12A5):c.3083G>A (p.Gly1028Asp) rs367960887 0.00004
NM_020708.5(SLC12A5):c.3181G>T (p.Val1061Leu) rs763066735 0.00004
NM_020708.5(SLC12A5):c.401G>A (p.Cys134Tyr) rs377612895 0.00004
NM_020708.5(SLC12A5):c.1955C>T (p.Ala652Val) rs1555865828 0.00003
NM_020708.5(SLC12A5):c.1961G>A (p.Arg654His) rs760824180 0.00003
NM_020708.5(SLC12A5):c.2854C>T (p.Arg952Cys) rs747552467 0.00003
NM_020708.5(SLC12A5):c.2860A>G (p.Asn954Asp) rs781354583 0.00003
NM_020708.5(SLC12A5):c.287G>A (p.Arg96His) rs756873079 0.00003
NM_020708.5(SLC12A5):c.2984G>C (p.Gly995Ala) rs376925159 0.00003
NM_020708.5(SLC12A5):c.851T>G (p.Phe284Cys) rs1213597825 0.00003
NM_020708.5(SLC12A5):c.1348G>A (p.Val450Ile) rs745565201 0.00002
NM_020708.5(SLC12A5):c.2036G>A (p.Arg679His) rs763612651 0.00002
NM_020708.5(SLC12A5):c.2260G>A (p.Val754Met) rs551572064 0.00002
NM_020708.5(SLC12A5):c.2300A>G (p.Gln767Arg) rs995997850 0.00002
NM_020708.5(SLC12A5):c.2371T>C (p.Phe791Leu) rs776507788 0.00002
NM_020708.5(SLC12A5):c.272C>T (p.Pro91Leu) rs1436913904 0.00002
NM_020708.5(SLC12A5):c.2876C>T (p.Thr959Met) rs759314815 0.00002
NM_020708.5(SLC12A5):c.2893G>C (p.Glu965Gln) rs776262547 0.00002
NM_020708.5(SLC12A5):c.2935G>A (p.Ala979Thr) rs751920054 0.00002
NM_020708.5(SLC12A5):c.30C>A (p.Asp10Glu) rs933771451 0.00002
NM_020708.5(SLC12A5):c.3142C>T (p.Arg1048Trp) rs369042030 0.00002
NM_020708.5(SLC12A5):c.772G>A (p.Val258Ile) rs915523015 0.00002
NM_020708.5(SLC12A5):c.955G>A (p.Gly319Ser) rs765018314 0.00002
NM_020708.5(SLC12A5):c.958C>T (p.Leu320Phe) rs916790849 0.00002
NM_020708.5(SLC12A5):c.1072C>G (p.Leu358Val) rs200514600 0.00001
NM_020708.5(SLC12A5):c.1156G>A (p.Asp386Asn) rs200798560 0.00001
NM_020708.5(SLC12A5):c.125G>A (p.Gly42Asp) rs1281331190 0.00001
NM_020708.5(SLC12A5):c.1306A>G (p.Ile436Val) rs140326431 0.00001
NM_020708.5(SLC12A5):c.1318G>A (p.Ala440Thr) rs769231047 0.00001
NM_020708.5(SLC12A5):c.1333G>A (p.Val445Ile) rs1600597599 0.00001
NM_020708.5(SLC12A5):c.1369A>G (p.Ile457Val) rs772414812 0.00001
NM_020708.5(SLC12A5):c.1395-3C>T rs760459724 0.00001
NM_020708.5(SLC12A5):c.1402G>A (p.Glu468Lys) rs564134718 0.00001
NM_020708.5(SLC12A5):c.1570-3C>G rs1371403151 0.00001
NM_020708.5(SLC12A5):c.1619T>C (p.Leu540Pro) rs149824011 0.00001
NM_020708.5(SLC12A5):c.1636G>C (p.Glu546Gln) rs1364136088 0.00001
NM_020708.5(SLC12A5):c.1975C>T (p.Arg659Cys) rs1173713421 0.00001
NM_020708.5(SLC12A5):c.1983G>A (p.Glu661=) rs1179563553 0.00001
NM_020708.5(SLC12A5):c.2041G>A (p.Asp681Asn) rs753266125 0.00001
NM_020708.5(SLC12A5):c.2143T>C (p.Phe715Leu) rs890647462 0.00001
NM_020708.5(SLC12A5):c.2165C>T (p.Ala722Val) rs1301239632 0.00001
NM_020708.5(SLC12A5):c.2191C>T (p.Arg731Cys) rs1197752454 0.00001
NM_020708.5(SLC12A5):c.2252G>A (p.Arg751His) rs377709894 0.00001
NM_020708.5(SLC12A5):c.2296C>A (p.Leu766Met) rs753106879 0.00001
NM_020708.5(SLC12A5):c.2377+5C>T rs903951175 0.00001
NM_020708.5(SLC12A5):c.2387G>A (p.Arg796Gln) rs1365579102 0.00001
NM_020708.5(SLC12A5):c.2431G>A (p.Val811Ile) rs201152687 0.00001
NM_020708.5(SLC12A5):c.2459G>A (p.Arg820His) rs1179723675 0.00001
NM_020708.5(SLC12A5):c.2541C>A (p.His847Gln) rs1190180234 0.00001
NM_020708.5(SLC12A5):c.2554C>T (p.Arg852Trp) rs1332402437 0.00001
NM_020708.5(SLC12A5):c.2678T>C (p.Met893Thr) rs200461513 0.00001
NM_020708.5(SLC12A5):c.2735G>A (p.Arg912His) rs764216462 0.00001
NM_020708.5(SLC12A5):c.2846C>T (p.Thr949Met) rs758888959 0.00001
NM_020708.5(SLC12A5):c.2879C>G (p.Ala960Gly) rs775224780 0.00001
NM_020708.5(SLC12A5):c.2885A>G (p.Asp962Gly) rs1284519025 0.00001
NM_020708.5(SLC12A5):c.2933G>A (p.Ser978Asn) rs1216388861 0.00001
NM_020708.5(SLC12A5):c.2942G>A (p.Ser981Asn) rs2084694133 0.00001
NM_020708.5(SLC12A5):c.3002C>G (p.Pro1001Arg) rs749426883 0.00001
NM_020708.5(SLC12A5):c.3062C>T (p.Pro1021Leu) rs1206199358 0.00001
NM_020708.5(SLC12A5):c.3110+4C>T rs781152138 0.00001
NM_020708.5(SLC12A5):c.3131A>T (p.Gln1044Leu) rs529949253 0.00001
NM_020708.5(SLC12A5):c.3143G>A (p.Arg1048Gln) rs1291356001 0.00001
NM_020708.5(SLC12A5):c.3145C>T (p.Arg1049Cys) rs548424453 0.00001
NM_020708.5(SLC12A5):c.3242G>T (p.Arg1081Leu) rs376095009 0.00001
NM_020708.5(SLC12A5):c.3325C>T (p.Arg1109Cys) rs1568870063 0.00001
NM_020708.5(SLC12A5):c.336T>G (p.Phe112Leu) rs2084493854 0.00001
NM_020708.5(SLC12A5):c.340G>A (p.Val114Ile) rs760750912 0.00001
NM_020708.5(SLC12A5):c.52G>A (p.Gly18Ser) rs1399171674 0.00001
NM_020708.5(SLC12A5):c.692G>A (p.Arg231His) rs1555863134 0.00001
NM_020708.5(SLC12A5):c.908C>G (p.Ala303Gly) rs751140061 0.00001
NM_020708.5(SLC12A5):c.916G>A (p.Ala306Thr) rs2084545554 0.00001
NM_020708.5(SLC12A5):c.937G>A (p.Val313Met) rs138569099 0.00001
NM_020708.5(SLC12A5):c.974G>A (p.Arg325His) rs751583991 0.00001
NM_020708.5(SLC12A5):c.97G>A (p.Asp33Asn) rs534826231 0.00001
NM_020708.5(SLC12A5):c.983A>G (p.Asn328Ser) rs2084546554 0.00001
NM_020708.5(SLC12A5):c.985G>A (p.Ala329Thr) rs767192319 0.00001
NM_020708.5(SLC12A5):c.1007C>G (p.Thr336Ser)
NM_020708.5(SLC12A5):c.1024G>A (p.Glu342Lys) rs2084547129
NM_020708.5(SLC12A5):c.1033G>A (p.Gly345Ser) rs909559043
NM_020708.5(SLC12A5):c.1060A>G (p.Ile354Val) rs961067707
NM_020708.5(SLC12A5):c.1066+5G>T
NM_020708.5(SLC12A5):c.1066+6C>T
NM_020708.5(SLC12A5):c.1084T>A (p.Tyr362Asn)
NM_020708.5(SLC12A5):c.108G>C (p.Lys36Asn) rs970629633
NM_020708.5(SLC12A5):c.1093A>G (p.Lys365Glu) rs1747278164
NM_020708.5(SLC12A5):c.109G>C (p.Gly37Arg)
NM_020708.5(SLC12A5):c.1112G>A (p.Arg371Lys) rs2145491395
NM_020708.5(SLC12A5):c.1124C>T (p.Thr375Ile) rs772033105
NM_020708.5(SLC12A5):c.1132G>A (p.Gly378Ser) rs2080922672
NM_020708.5(SLC12A5):c.1141G>A (p.Asp381Asn)
NM_020708.5(SLC12A5):c.1144G>A (p.Gly382Ser) rs1450320682
NM_020708.5(SLC12A5):c.1145G>A (p.Gly382Asp)
NM_020708.5(SLC12A5):c.1148C>A (p.Thr383Asn) rs201727005
NM_020708.5(SLC12A5):c.1159A>G (p.Met387Val)
NM_020708.5(SLC12A5):c.1161G>A (p.Met387Ile) rs771205120
NM_020708.5(SLC12A5):c.1168C>G (p.Pro390Ala)
NM_020708.5(SLC12A5):c.1174G>A (p.Val392Ile) rs2145491521
NM_020708.5(SLC12A5):c.1196A>G (p.Tyr399Cys)
NM_020708.5(SLC12A5):c.1243A>G (p.Met415Val) rs368484023
NM_020708.5(SLC12A5):c.124G>T (p.Gly42Cys) rs2145481710
NM_020708.5(SLC12A5):c.1259G>A (p.Arg420His) rs757586510
NM_020708.5(SLC12A5):c.1291A>G (p.Ile431Val)
NM_020708.5(SLC12A5):c.1301G>A (p.Gly434Asp) rs2084568578
NM_020708.5(SLC12A5):c.1334T>C (p.Val445Ala) rs2145492118
NM_020708.5(SLC12A5):c.1363G>A (p.Ala455Thr)
NM_020708.5(SLC12A5):c.1374G>C (p.Glu458Asp)
NM_020708.5(SLC12A5):c.1387C>G (p.Arg463Gly)
NM_020708.5(SLC12A5):c.1387C>T (p.Arg463Trp) rs769265263
NM_020708.5(SLC12A5):c.1423G>A (p.Val475Met) rs1304092442
NM_020708.5(SLC12A5):c.1447T>C (p.Ser483Pro) rs2084581427
NM_020708.5(SLC12A5):c.1465A>T (p.Ile489Phe) rs2084581563
NM_020708.5(SLC12A5):c.147G>A (p.Glu49=) rs2084484862
NM_020708.5(SLC12A5):c.1499T>C (p.Leu500Pro)
NM_020708.5(SLC12A5):c.1523G>A (p.Arg508His) rs2084582477
NM_020708.5(SLC12A5):c.1600C>G (p.Pro534Ala)
NM_020708.5(SLC12A5):c.1613T>C (p.Leu538Pro) rs1555865050
NM_020708.5(SLC12A5):c.1621A>C (p.Thr541Pro)
NM_020708.5(SLC12A5):c.1658C>T (p.Ser553Phe) rs2145494762
NM_020708.5(SLC12A5):c.1667A>G (p.Glu556Gly)
NM_020708.5(SLC12A5):c.1676C>G (p.Pro559Arg)
NM_020708.5(SLC12A5):c.1688T>C (p.Met563Thr)
NM_020708.5(SLC12A5):c.1702T>C (p.Cys568Arg) rs2145495282
NM_020708.5(SLC12A5):c.171G>A (p.Met57Ile)
NM_020708.5(SLC12A5):c.1739C>T (p.Thr580Met)
NM_020708.5(SLC12A5):c.1757A>G (p.Asn586Ser) rs749064755
NM_020708.5(SLC12A5):c.1768C>T (p.Arg590Cys) rs2084595756
NM_020708.5(SLC12A5):c.1775G>A (p.Arg592Gln) rs368661669
NM_020708.5(SLC12A5):c.1778A>T (p.Tyr593Phe)
NM_020708.5(SLC12A5):c.17C>T (p.Thr6Met) rs538727547
NM_020708.5(SLC12A5):c.1811G>T (p.Ser604Ile)
NM_020708.5(SLC12A5):c.1828A>G (p.Met610Val)
NM_020708.5(SLC12A5):c.1834A>G (p.Ile612Val) rs1600600642
NM_020708.5(SLC12A5):c.1850A>G (p.Tyr617Cys) rs1388235037
NM_020708.5(SLC12A5):c.1904G>A (p.Arg635His) rs746932137
NM_020708.5(SLC12A5):c.1907+5G>A rs2084607114
NM_020708.5(SLC12A5):c.1921T>C (p.Trp641Arg) rs2084611541
NM_020708.5(SLC12A5):c.1936C>G (p.Arg646Gly) rs771263913
NM_020708.5(SLC12A5):c.1960C>A (p.Arg654Ser) rs200020521
NM_020708.5(SLC12A5):c.1960C>T (p.Arg654Cys) rs200020521
NM_020708.5(SLC12A5):c.197C>T (p.Ala66Val) rs2145482188
NM_020708.5(SLC12A5):c.1985_1987dup (p.Glu662dup) rs2145497390
NM_020708.5(SLC12A5):c.2059G>T (p.Val687Leu) rs1175869873
NM_020708.5(SLC12A5):c.2074C>T (p.Leu692Phe) rs745527673
NM_020708.5(SLC12A5):c.2087C>T (p.Ser696Phe) rs2145499586
NM_020708.5(SLC12A5):c.2092C>A (p.Leu698Met) rs1325111537
NM_020708.5(SLC12A5):c.2105A>G (p.Lys702Arg) rs1555866427
NM_020708.5(SLC12A5):c.2119G>C (p.Val707Leu) rs1199339536
NM_020708.5(SLC12A5):c.2131C>T (p.Leu711Phe)
NM_020708.5(SLC12A5):c.2155C>A (p.His719Asn) rs2084631866
NM_020708.5(SLC12A5):c.2181+3G>A
NM_020708.5(SLC12A5):c.2181+5_2181+6delinsAA rs2145499747
NM_020708.5(SLC12A5):c.2185A>T (p.Ile729Phe) rs1479711008
NM_020708.5(SLC12A5):c.21C>A (p.Asp7Glu) rs1411688611
NM_020708.5(SLC12A5):c.2212G>A (p.Val738Met)
NM_020708.5(SLC12A5):c.2248T>A (p.Leu750Met)
NM_020708.5(SLC12A5):c.2297T>G (p.Leu766Arg)
NM_020708.5(SLC12A5):c.2339G>A (p.Arg780His)
NM_020708.5(SLC12A5):c.2350G>T (p.Asp784Tyr) rs2084649437
NM_020708.5(SLC12A5):c.2360C>T (p.Thr787Met) rs901985864
NM_020708.5(SLC12A5):c.2375T>C (p.Ile792Thr) rs769820337
NM_020708.5(SLC12A5):c.2402G>A (p.Gly801Asp) rs1555867242
NM_020708.5(SLC12A5):c.2407T>G (p.Leu803Val)
NM_020708.5(SLC12A5):c.242C>T (p.Ala81Val) rs76320421
NM_020708.5(SLC12A5):c.2443C>T (p.Pro815Ser) rs2084659527
NM_020708.5(SLC12A5):c.2448G>T (p.Gly816=)
NM_020708.5(SLC12A5):c.2452C>A (p.Pro818Thr)
NM_020708.5(SLC12A5):c.2482G>A (p.Val828Ile)
NM_020708.5(SLC12A5):c.2511G>T (p.Met837Ile) rs1251560492
NM_020708.5(SLC12A5):c.2537G>A (p.Arg846Gln)
NM_020708.5(SLC12A5):c.2547G>A (p.Lys849=) rs1271576929
NM_020708.5(SLC12A5):c.256G>A (p.Gly86Ser)
NM_020708.5(SLC12A5):c.25G>A (p.Glu9Lys)
NM_020708.5(SLC12A5):c.2639A>G (p.Tyr880Cys) rs1270290272
NM_020708.5(SLC12A5):c.2657C>T (p.Ala886Val)
NM_020708.5(SLC12A5):c.2665G>A (p.Glu889Lys) rs565709821
NM_020708.5(SLC12A5):c.2672T>C (p.Val891Ala)
NM_020708.5(SLC12A5):c.2685G>C (p.Glu895Asp) rs1568868408
NM_020708.5(SLC12A5):c.2708A>T (p.Tyr903Phe) rs2145505900
NM_020708.5(SLC12A5):c.2750A>G (p.Lys917Arg) rs2084677325
NM_020708.5(SLC12A5):c.2754G>C (p.Gln918His) rs1417761332
NM_020708.5(SLC12A5):c.275T>C (p.Val92Ala)
NM_020708.5(SLC12A5):c.2767A>G (p.Lys923Glu) rs2084677438
NM_020708.5(SLC12A5):c.2777G>A (p.Arg926Gln)
NM_020708.5(SLC12A5):c.2787+6G>A rs2084677694
NM_020708.5(SLC12A5):c.2806G>A (p.Glu936Lys) rs2084689806
NM_020708.5(SLC12A5):c.2807A>T (p.Glu936Val) rs2145507497
NM_020708.5(SLC12A5):c.281C>A (p.Ala94Asp) rs2084493069
NM_020708.5(SLC12A5):c.2831A>C (p.Lys944Thr)
NM_020708.5(SLC12A5):c.2840C>A (p.Ala947Asp) rs199934904
NM_020708.5(SLC12A5):c.2862C>A (p.Asn954Lys) rs754601939
NM_020708.5(SLC12A5):c.2863G>A (p.Val955Ile)
NM_020708.5(SLC12A5):c.286C>A (p.Arg96Ser) rs145700012
NM_020708.5(SLC12A5):c.2872G>A (p.Glu958Lys)
NM_020708.5(SLC12A5):c.287G>T (p.Arg96Leu) rs756873079
NM_020708.5(SLC12A5):c.2890G>A (p.Glu964Lys)
NM_020708.5(SLC12A5):c.289A>T (p.Met97Leu)
NM_020708.5(SLC12A5):c.2910G>A (p.Glu970=)
NM_020708.5(SLC12A5):c.2911-3C>T rs2084693738
NM_020708.5(SLC12A5):c.2925C>A (p.His975Gln) rs778476586
NM_020708.5(SLC12A5):c.2926G>A (p.Asp976Asn)
NM_020708.5(SLC12A5):c.2938C>A (p.Pro980Thr) rs2145507934
NM_020708.5(SLC12A5):c.2953A>G (p.Ser985Gly) rs2145507962
NM_020708.5(SLC12A5):c.2963C>T (p.Ser988Phe) rs1600607044
NM_020708.5(SLC12A5):c.2989G>A (p.Gly997Arg) rs2084695025
NM_020708.5(SLC12A5):c.298T>A (p.Phe100Ile) rs1396711146
NM_020708.5(SLC12A5):c.3001C>T (p.Pro1001Ser) rs2084695249
NM_020708.5(SLC12A5):c.3002C>T (p.Pro1001Leu) rs749426883
NM_020708.5(SLC12A5):c.3010G>A (p.Val1004Met) rs2145508098
NM_020708.5(SLC12A5):c.3028A>G (p.Lys1010Glu) rs2084695663
NM_020708.5(SLC12A5):c.3031G>A (p.Asp1011Asn)
NM_020708.5(SLC12A5):c.3033C>G (p.Asp1011Glu) rs2084695742
NM_020708.5(SLC12A5):c.3040G>A (p.Val1014Met) rs2145508136
NM_020708.5(SLC12A5):c.304G>A (p.Gly102Ser) rs2145482789
NM_020708.5(SLC12A5):c.3074C>T (p.Ser1025Phe)
NM_020708.5(SLC12A5):c.3080A>G (p.Glu1027Gly)
NM_020708.5(SLC12A5):c.3091G>C (p.Asp1031His) rs2145508232
NM_020708.5(SLC12A5):c.3096C>A (p.Phe1032Leu)
NM_020708.5(SLC12A5):c.3101G>A (p.Ser1034Asn) rs750612388
NM_020708.5(SLC12A5):c.3105G>T (p.Met1035Ile) rs375422132
NM_020708.5(SLC12A5):c.3110+5G>A rs748005684
NM_020708.5(SLC12A5):c.3110C>T (p.Pro1037Leu) rs1304640833
NM_020708.5(SLC12A5):c.3173_3175del (p.Glu1058del) rs2084704275
NM_020708.5(SLC12A5):c.317C>T (p.Pro106Leu) rs2084493674
NM_020708.5(SLC12A5):c.3199G>A (p.Ala1067Thr) rs1600607907
NM_020708.5(SLC12A5):c.3200C>G (p.Ala1067Gly) rs2084704738
NM_020708.5(SLC12A5):c.3218A>G (p.Asn1073Ser) rs1402047500
NM_020708.5(SLC12A5):c.3222G>A (p.Met1074Ile) rs2084704882
NM_020708.5(SLC12A5):c.3242G>A (p.Arg1081His) rs376095009
NM_020708.5(SLC12A5):c.3250G>A (p.Asp1084Asn) rs2084705283
NM_020708.5(SLC12A5):c.3260-3C>G
NM_020708.5(SLC12A5):c.3267G>T (p.Glu1089Asp) rs374697509
NM_020708.5(SLC12A5):c.326A>G (p.Gln109Arg) rs2145482810
NM_020708.5(SLC12A5):c.3304A>T (p.Met1102Leu) rs2084707984
NM_020708.5(SLC12A5):c.355C>T (p.Arg119Trp) rs3848724
NM_020708.5(SLC12A5):c.377T>C (p.Ile126Thr) rs758760799
NM_020708.5(SLC12A5):c.403A>G (p.Met135Val) rs2145482911
NM_020708.5(SLC12A5):c.411C>A (p.Phe137Leu) rs2145482914
NM_020708.5(SLC12A5):c.413T>G (p.Ile138Ser) rs2145482918
NM_020708.5(SLC12A5):c.418T>C (p.Cys140Arg) rs2145482936
NM_020708.5(SLC12A5):c.427-3C>T
NM_020708.5(SLC12A5):c.428C>T (p.Thr143Met) rs764963565
NM_020708.5(SLC12A5):c.437C>T (p.Thr146Met) rs2084502132
NM_020708.5(SLC12A5):c.457A>T (p.Ile153Phe)
NM_020708.5(SLC12A5):c.464C>T (p.Thr155Met) rs2084502373
NM_020708.5(SLC12A5):c.470G>A (p.Gly157Asp) rs2084502438
NM_020708.5(SLC12A5):c.50C>G (p.Pro17Arg)
NM_020708.5(SLC12A5):c.529G>C (p.Gly177Arg)
NM_020708.5(SLC12A5):c.53G>A (p.Gly18Asp)
NM_020708.5(SLC12A5):c.553T>C (p.Tyr185His)
NM_020708.5(SLC12A5):c.563C>A (p.Thr188Asn) rs2145484631
NM_020708.5(SLC12A5):c.575G>C (p.Gly192Ala)
NM_020708.5(SLC12A5):c.587T>A (p.Ile196Asn) rs2145484652
NM_020708.5(SLC12A5):c.601G>A (p.Glu201Lys) rs868598822
NM_020708.5(SLC12A5):c.613G>A (p.Ala205Thr) rs2084534894
NM_020708.5(SLC12A5):c.631A>G (p.Met211Val) rs2145487863
NM_020708.5(SLC12A5):c.64C>A (p.Pro22Thr) rs2084483871
NM_020708.5(SLC12A5):c.655G>A (p.Ala219Thr)
NM_020708.5(SLC12A5):c.684C>A (p.Asn228Lys) rs2084535559
NM_020708.5(SLC12A5):c.688A>G (p.Met230Val) rs2145487913
NM_020708.5(SLC12A5):c.689T>G (p.Met230Arg) rs2084535623
NM_020708.5(SLC12A5):c.694G>A (p.Val232Ile) rs1555863136
NM_020708.5(SLC12A5):c.723G>A (p.Met241Ile) rs766598411
NM_020708.5(SLC12A5):c.749A>C (p.Lys250Thr)
NM_020708.5(SLC12A5):c.74G>A (p.Ser25Asn)
NM_020708.5(SLC12A5):c.750G>A (p.Lys250=)
NM_020708.5(SLC12A5):c.750G>T (p.Lys250Asn) rs777601251
NM_020708.5(SLC12A5):c.772G>T (p.Val258Phe)
NM_020708.5(SLC12A5):c.848A>G (p.Asn283Ser)
NM_020708.5(SLC12A5):c.866T>G (p.Leu289Arg) rs1600595445
NM_020708.5(SLC12A5):c.86T>C (p.Ile29Thr) rs2084484090
NM_020708.5(SLC12A5):c.893G>T (p.Gly298Val) rs1317503439
NM_020708.5(SLC12A5):c.900T>G (p.Asp300Glu) rs765877175
NM_020708.5(SLC12A5):c.937G>T (p.Val313Leu) rs138569099
NM_020708.5(SLC12A5):c.941C>T (p.Thr314Ile)
NM_020708.5(SLC12A5):c.944C>T (p.Thr315Ile) rs2145489127
NM_020708.5(SLC12A5):c.995A>G (p.Asp332Gly)

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