ClinVar Miner

List of variants in gene SETX reported as uncertain significance for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 400
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HGVS dbSNP gnomAD frequency
NM_015046.7(SETX):c.2672T>C (p.Val891Ala) rs148181729 0.00434
NM_015046.7(SETX):c.472T>G (p.Leu158Val) rs145438764 0.00347
NM_015046.7(SETX):c.4982C>G (p.Pro1661Arg) rs146873848 0.00076
NM_015046.7(SETX):c.5949+5G>A rs374656811 0.00076
NM_015046.7(SETX):c.3010A>G (p.Asn1004Asp) rs77984885 0.00070
NM_015046.7(SETX):c.7870G>T (p.Asp2624Tyr) rs141589525 0.00070
NM_015046.7(SETX):c.2282C>T (p.Ser761Leu) rs200153024 0.00059
NM_015046.7(SETX):c.2479A>G (p.Lys827Glu) rs150532677 0.00058
NM_015046.7(SETX):c.3965C>A (p.Thr1322Asn) rs144900653 0.00048
NM_015046.7(SETX):c.3826C>G (p.Gln1276Glu) rs148604312 0.00038
NM_015046.7(SETX):c.654G>C (p.Lys218Asn) rs117861188 0.00038
NM_015046.7(SETX):c.7432A>G (p.Thr2478Ala) rs142303658 0.00038
NM_015046.7(SETX):c.4612C>T (p.Arg1538Trp) rs147018359 0.00035
NM_015046.7(SETX):c.4433C>A (p.Ala1478Glu) rs143661911 0.00034
NM_015046.7(SETX):c.7982A>G (p.Lys2661Arg) rs199921065 0.00034
NM_015046.7(SETX):c.4096T>C (p.Ser1366Pro) rs140147684 0.00030
NM_015046.7(SETX):c.1504C>T (p.Arg502Trp) rs534723946 0.00029
NM_015046.7(SETX):c.2446A>G (p.Thr816Ala) rs369470593 0.00026
NM_015046.7(SETX):c.*2384T>A rs570456500 0.00022
NM_015046.7(SETX):c.5294A>G (p.Asn1765Ser) rs373085593 0.00022
NM_015046.7(SETX):c.1391C>T (p.Ser464Leu) rs200614765 0.00020
NM_015046.7(SETX):c.4273A>G (p.Lys1425Glu) rs534886444 0.00020
NM_015046.7(SETX):c.4520A>C (p.Asp1507Ala) rs138195434 0.00019
NM_015046.7(SETX):c.1066G>A (p.Val356Ile) rs143270460 0.00018
NM_015046.7(SETX):c.1869A>C (p.Glu623Asp) rs139200312 0.00017
NM_015046.7(SETX):c.968G>A (p.Ser323Asn) rs372193033 0.00017
NM_015046.7(SETX):c.6013G>A (p.Val2005Met) rs148568105 0.00016
NM_015046.7(SETX):c.7195A>G (p.Ile2399Val) rs150489999 0.00016
NM_015046.7(SETX):c.7490G>A (p.Ser2497Asn) rs61735488 0.00013
NM_015046.7(SETX):c.5051C>G (p.Ser1684Cys) rs140116005 0.00011
NM_015046.7(SETX):c.7092T>C (p.Asp2364=) rs144607919 0.00011
NM_015046.7(SETX):c.5536C>T (p.Arg1846Cys) rs551406712 0.00010
NM_015046.7(SETX):c.2750T>C (p.Met917Thr) rs376022544 0.00009
NM_015046.7(SETX):c.3491G>A (p.Arg1164Gln) rs369264209 0.00009
NM_015046.7(SETX):c.5852A>G (p.His1951Arg) rs146593865 0.00009
NM_015046.7(SETX):c.1374T>G (p.Phe458Leu) rs201441886 0.00008
NM_015046.7(SETX):c.3016G>A (p.Gly1006Arg) rs141266068 0.00008
NM_015046.7(SETX):c.7874C>T (p.Pro2625Leu) rs553413088 0.00008
NM_015046.7(SETX):c.1880T>C (p.Met627Thr) rs199707503 0.00007
NM_015046.7(SETX):c.3023C>G (p.Thr1008Ser) rs372021275 0.00007
NM_015046.7(SETX):c.4631T>C (p.Leu1544Ser) rs754357821 0.00007
NM_015046.7(SETX):c.5842A>G (p.Met1948Val) rs762267386 0.00007
NM_015046.7(SETX):c.6161G>A (p.Ser2054Asn) rs200778360 0.00007
NM_015046.7(SETX):c.7660T>A (p.Phe2554Ile) rs368269464 0.00007
NM_015046.7(SETX):c.7682C>T (p.Ser2561Leu) rs147705644 0.00007
NM_015046.7(SETX):c.1690T>G (p.Leu564Val) rs761877146 0.00006
NM_015046.7(SETX):c.5537G>A (p.Arg1846His) rs373571937 0.00006
NM_015046.7(SETX):c.658A>C (p.Lys220Gln) rs761180215 0.00006
NM_015046.7(SETX):c.1468G>A (p.Val490Ile) rs763545230 0.00005
NM_015046.7(SETX):c.3056C>A (p.Ser1019Tyr) rs749204574 0.00005
NM_015046.7(SETX):c.4225A>T (p.Asn1409Tyr) rs373375060 0.00005
NM_015046.7(SETX):c.4252C>G (p.Pro1418Ala) rs747356601 0.00005
NM_015046.7(SETX):c.4979A>G (p.His1660Arg) rs371894414 0.00005
NM_015046.7(SETX):c.4A>G (p.Ser2Gly) rs149808180 0.00005
NM_015046.7(SETX):c.6172A>C (p.Lys2058Gln) rs747309962 0.00005
NM_015046.7(SETX):c.7406T>C (p.Leu2469Pro) rs151304085 0.00005
NM_015046.7(SETX):c.7439C>T (p.Ala2480Val) rs376524608 0.00005
NM_015046.7(SETX):c.7814G>A (p.Arg2605Gln) rs543247171 0.00005
NM_015046.7(SETX):c.991A>G (p.Ile331Val) rs572884359 0.00005
NM_015046.7(SETX):c.*7C>T rs754956426 0.00004
NM_015046.7(SETX):c.1015A>C (p.Lys339Gln) rs768437607 0.00004
NM_015046.7(SETX):c.1750C>G (p.Leu584Val) rs764995848 0.00004
NM_015046.7(SETX):c.1754A>G (p.Gln585Arg) rs188247474 0.00004
NM_015046.7(SETX):c.2176T>C (p.Cys726Arg) rs377734748 0.00004
NM_015046.7(SETX):c.2543T>G (p.Val848Gly) rs567711722 0.00004
NM_015046.7(SETX):c.2591C>T (p.Pro864Leu) rs139427451 0.00004
NM_015046.7(SETX):c.2935G>A (p.Asp979Asn) rs138287942 0.00004
NM_015046.7(SETX):c.3029G>A (p.Arg1010His) rs370781594 0.00004
NM_015046.7(SETX):c.3115A>G (p.Ile1039Val) rs372529790 0.00004
NM_015046.7(SETX):c.3161A>C (p.Asn1054Thr) rs547184795 0.00004
NM_015046.7(SETX):c.3587A>G (p.Asn1196Ser) rs376381668 0.00004
NM_015046.7(SETX):c.377A>G (p.His126Arg) rs368932301 0.00004
NM_015046.7(SETX):c.3968G>A (p.Arg1323Gln) rs369542231 0.00004
NM_015046.7(SETX):c.4436C>T (p.Ala1479Val) rs761119964 0.00004
NM_015046.7(SETX):c.4828C>T (p.Leu1610Phe) rs749891883 0.00004
NM_015046.7(SETX):c.546C>A (p.Asp182Glu) rs199748733 0.00004
NM_015046.7(SETX):c.5591A>C (p.Gln1864Pro) rs375747001 0.00004
NM_015046.7(SETX):c.6122T>C (p.Ile2041Thr) rs140676924 0.00004
NM_015046.7(SETX):c.6910G>T (p.Asp2304Tyr) rs774458684 0.00004
NM_015046.7(SETX):c.7073A>G (p.Asp2358Gly) rs770469636 0.00004
NM_015046.7(SETX):c.7715C>T (p.Thr2572Met) rs773364996 0.00004
NM_015046.7(SETX):c.839-6T>C rs760584527 0.00004
NM_015046.7(SETX):c.146A>G (p.Lys49Arg) rs142551293 0.00003
NM_015046.7(SETX):c.1667A>G (p.Lys556Arg) rs754890755 0.00003
NM_015046.7(SETX):c.1919C>G (p.Ala640Gly) rs998278975 0.00003
NM_015046.7(SETX):c.2045A>G (p.His682Arg) rs373850132 0.00003
NM_015046.7(SETX):c.2390A>G (p.Lys797Arg) rs1273786747 0.00003
NM_015046.7(SETX):c.2399G>T (p.Arg800Met) rs761725498 0.00003
NM_015046.7(SETX):c.2411T>C (p.Leu804Ser) rs201096140 0.00003
NM_015046.7(SETX):c.2755G>C (p.Val919Leu) rs561190371 0.00003
NM_015046.7(SETX):c.3298A>G (p.Asn1100Asp) rs1230355404 0.00003
NM_015046.7(SETX):c.382C>T (p.Arg128Cys) rs552476047 0.00003
NM_015046.7(SETX):c.4088G>A (p.Arg1363Gln) rs748262024 0.00003
NM_015046.7(SETX):c.4291C>G (p.Pro1431Ala) rs371541705 0.00003
NM_015046.7(SETX):c.4390C>T (p.Pro1464Ser) rs756080695 0.00003
NM_015046.7(SETX):c.4525T>C (p.Cys1509Arg) rs543647990 0.00003
NM_015046.7(SETX):c.4685G>A (p.Gly1562Asp) rs771969117 0.00003
NM_015046.7(SETX):c.5071C>A (p.Leu1691Ile) rs756770572 0.00003
NM_015046.7(SETX):c.58C>T (p.Arg20Cys) rs200228952 0.00003
NM_015046.7(SETX):c.6085A>G (p.Lys2029Glu) rs746525639 0.00003
NM_015046.7(SETX):c.719-4A>G rs775443601 0.00003
NM_015046.7(SETX):c.7819G>A (p.Glu2607Lys) rs200969620 0.00003
NM_015046.7(SETX):c.806C>T (p.Ser269Leu) rs757988188 0.00003
NM_015046.7(SETX):c.973A>G (p.Asn325Asp) rs765421589 0.00003
NM_015046.7(SETX):c.*2A>G rs1227559043 0.00002
NM_015046.7(SETX):c.1462G>A (p.Ala488Thr) rs374334031 0.00002
NM_015046.7(SETX):c.1858A>G (p.Asn620Asp) rs777081940 0.00002
NM_015046.7(SETX):c.2101G>A (p.Ala701Thr) rs769620847 0.00002
NM_015046.7(SETX):c.2395C>T (p.His799Tyr) rs200459144 0.00002
NM_015046.7(SETX):c.2842C>A (p.Pro948Thr) rs778882347 0.00002
NM_015046.7(SETX):c.3047T>C (p.Ile1016Thr) rs200856903 0.00002
NM_015046.7(SETX):c.3200C>T (p.Thr1067Ile) rs374091487 0.00002
NM_015046.7(SETX):c.3880C>T (p.Arg1294Cys) rs267607044 0.00002
NM_015046.7(SETX):c.3955G>A (p.Val1319Ile) rs771168824 0.00002
NM_015046.7(SETX):c.4180T>C (p.Ser1394Pro) rs780078856 0.00002
NM_015046.7(SETX):c.4369A>G (p.Ile1457Val) rs747804357 0.00002
NM_015046.7(SETX):c.4423A>G (p.Ile1475Val) rs376678876 0.00002
NM_015046.7(SETX):c.4906A>G (p.Lys1636Glu) rs368931174 0.00002
NM_015046.7(SETX):c.5158G>T (p.Gly1720Trp) rs768757368 0.00002
NM_015046.7(SETX):c.5322G>T (p.Gln1774His) rs771691157 0.00002
NM_015046.7(SETX):c.5403A>C (p.Lys1801Asn) rs762071010 0.00002
NM_015046.7(SETX):c.5427T>G (p.Asp1809Glu) rs978380834 0.00002
NM_015046.7(SETX):c.5552G>A (p.Arg1851His) rs137978070 0.00002
NM_015046.7(SETX):c.5603C>T (p.Pro1868Leu) rs370368422 0.00002
NM_015046.7(SETX):c.6029A>G (p.Asn2010Ser) rs759806045 0.00002
NM_015046.7(SETX):c.6356T>C (p.Val2119Ala) rs781741533 0.00002
NM_015046.7(SETX):c.635C>G (p.Thr212Ser) rs771502043 0.00002
NM_015046.7(SETX):c.6668A>G (p.Tyr2223Cys) rs747913385 0.00002
NM_015046.7(SETX):c.7019G>A (p.Arg2340Gln) rs369919717 0.00002
NM_015046.7(SETX):c.7079A>G (p.Asp2360Gly) rs1346929384 0.00002
NM_015046.7(SETX):c.7488C>G (p.Asp2496Glu) rs1240185024 0.00002
NM_015046.7(SETX):c.7967A>G (p.Asn2656Ser) rs745394467 0.00002
NM_015046.7(SETX):c.855T>C (p.Pro285=) rs141736312 0.00002
NM_015046.7(SETX):c.100G>A (p.Asp34Asn) rs555364587 0.00001
NM_015046.7(SETX):c.1204C>T (p.Arg402Cys) rs772044862 0.00001
NM_015046.7(SETX):c.1285A>G (p.Ile429Val) rs747053403 0.00001
NM_015046.7(SETX):c.1288G>A (p.Ala430Thr) rs778488721 0.00001
NM_015046.7(SETX):c.1358A>G (p.Lys453Arg) rs886063559 0.00001
NM_015046.7(SETX):c.1363A>G (p.Thr455Ala) rs777032247 0.00001
NM_015046.7(SETX):c.1438G>T (p.Val480Leu) rs377301250 0.00001
NM_015046.7(SETX):c.1579C>G (p.Pro527Ala) rs774240718 0.00001
NM_015046.7(SETX):c.1670G>A (p.Arg557Gln) rs548433078 0.00001
NM_015046.7(SETX):c.172C>T (p.His58Tyr) rs757760067 0.00001
NM_015046.7(SETX):c.1771A>G (p.Ile591Val) rs777443178 0.00001
NM_015046.7(SETX):c.2005A>T (p.Asn669Tyr) rs143727702 0.00001
NM_015046.7(SETX):c.208A>G (p.Ile70Val) rs747469176 0.00001
NM_015046.7(SETX):c.2125A>G (p.Thr709Ala) rs750530263 0.00001
NM_015046.7(SETX):c.2233C>T (p.Arg745Cys) rs780121182 0.00001
NM_015046.7(SETX):c.2245G>A (p.Asp749Asn) rs922821119 0.00001
NM_015046.7(SETX):c.2254A>G (p.Thr752Ala) rs745938575 0.00001
NM_015046.7(SETX):c.2272G>A (p.Val758Met) rs377667448 0.00001
NM_015046.7(SETX):c.2278A>G (p.Thr760Ala) rs373647065 0.00001
NM_015046.7(SETX):c.2295C>A (p.Phe765Leu) rs771954896 0.00001
NM_015046.7(SETX):c.241A>G (p.Ile81Val) rs371166895 0.00001
NM_015046.7(SETX):c.245G>A (p.Gly82Glu) rs201864041 0.00001
NM_015046.7(SETX):c.2607_2609del (p.Lys870del) rs781159054 0.00001
NM_015046.7(SETX):c.2698A>G (p.Thr900Ala) rs1320466105 0.00001
NM_015046.7(SETX):c.2699C>G (p.Thr900Arg) rs1355909107 0.00001
NM_015046.7(SETX):c.2711A>G (p.Asn904Ser) rs143265750 0.00001
NM_015046.7(SETX):c.272A>G (p.Asp91Gly) rs1327343862 0.00001
NM_015046.7(SETX):c.2779A>G (p.Met927Val) rs886063556 0.00001
NM_015046.7(SETX):c.2788A>G (p.Ser930Gly) rs770694223 0.00001
NM_015046.7(SETX):c.2887C>T (p.His963Tyr) rs757405541 0.00001
NM_015046.7(SETX):c.2985A>C (p.Lys995Asn) rs1285317289 0.00001
NM_015046.7(SETX):c.3026C>T (p.Ser1009Phe) rs754285464 0.00001
NM_015046.7(SETX):c.3040A>G (p.Ile1014Val) rs761243379 0.00001
NM_015046.7(SETX):c.3299A>C (p.Asn1100Thr) rs545072717 0.00001
NM_015046.7(SETX):c.3428G>T (p.Arg1143Ile) rs1364862426 0.00001
NM_015046.7(SETX):c.3497A>G (p.Glu1166Gly) rs1554820858 0.00001
NM_015046.7(SETX):c.3567T>G (p.Asn1189Lys) rs779729376 0.00001
NM_015046.7(SETX):c.3602T>C (p.Ile1201Thr) rs750443804 0.00001
NM_015046.7(SETX):c.3607A>G (p.Arg1203Gly) rs948232391 0.00001
NM_015046.7(SETX):c.3706G>A (p.Val1236Ile) rs761851331 0.00001
NM_015046.7(SETX):c.3823C>T (p.Arg1275Cys) rs760272692 0.00001
NM_015046.7(SETX):c.3900C>T (p.Ser1300=) rs886063554 0.00001
NM_015046.7(SETX):c.3931C>T (p.Arg1311Cys) rs773999398 0.00001
NM_015046.7(SETX):c.4048A>G (p.Met1350Val) rs769666635 0.00001
NM_015046.7(SETX):c.4114G>C (p.Asp1372His) rs1564539457 0.00001
NM_015046.7(SETX):c.4136A>G (p.His1379Arg) rs181158146 0.00001
NM_015046.7(SETX):c.4202G>T (p.Gly1401Val) rs185868357 0.00001
NM_015046.7(SETX):c.4270A>G (p.Ile1424Val) rs757978377 0.00001
NM_015046.7(SETX):c.4297A>G (p.Thr1433Ala) rs1038733632 0.00001
NM_015046.7(SETX):c.4312C>T (p.Pro1438Ser) rs750178634 0.00001
NM_015046.7(SETX):c.4417C>T (p.Arg1473Cys) rs781185115 0.00001
NM_015046.7(SETX):c.4432G>A (p.Ala1478Thr) rs759545112 0.00001
NM_015046.7(SETX):c.4507C>A (p.Pro1503Thr) rs745844516 0.00001
NM_015046.7(SETX):c.4672A>G (p.Thr1558Ala) rs764920626 0.00001
NM_015046.7(SETX):c.4759C>T (p.Pro1587Ser) rs916634082 0.00001
NM_015046.7(SETX):c.4964C>T (p.Ser1655Leu) rs1189378413 0.00001
NM_015046.7(SETX):c.5171G>A (p.Ser1724Asn) rs770527045 0.00001
NM_015046.7(SETX):c.5203G>A (p.Val1735Ile) rs752646721 0.00001
NM_015046.7(SETX):c.5278G>A (p.Ala1760Thr) rs764316153 0.00001
NM_015046.7(SETX):c.5297C>A (p.Ser1766Tyr) rs1434366684 0.00001
NM_015046.7(SETX):c.5342C>G (p.Pro1781Arg) rs2539021792 0.00001
NM_015046.7(SETX):c.5503G>A (p.Glu1835Lys) rs143133190 0.00001
NM_015046.7(SETX):c.569A>C (p.Gln190Pro) rs1173845468 0.00001
NM_015046.7(SETX):c.571G>A (p.Glu191Lys) rs929798338 0.00001
NM_015046.7(SETX):c.5834C>T (p.Ala1945Val) rs1009296937 0.00001
NM_015046.7(SETX):c.5858C>T (p.Pro1953Leu) rs749598296 0.00001
NM_015046.7(SETX):c.5938C>T (p.Leu1980=) rs867574108 0.00001
NM_015046.7(SETX):c.5954A>G (p.Gln1985Arg) rs879781944 0.00001
NM_015046.7(SETX):c.5956A>T (p.Arg1986Trp) rs868436982 0.00001
NM_015046.7(SETX):c.6106+3dup rs1844639633 0.00001
NM_015046.7(SETX):c.6179G>C (p.Ser2060Thr) rs752731567 0.00001
NM_015046.7(SETX):c.6248G>T (p.Arg2083Ile) rs751252138 0.00001
NM_015046.7(SETX):c.628A>G (p.Ile210Val) rs1352654083 0.00001
NM_015046.7(SETX):c.6313C>T (p.Arg2105Trp) rs142843968 0.00001
NM_015046.7(SETX):c.7005G>C (p.Lys2335Asn) rs141657462 0.00001
NM_015046.7(SETX):c.7100+3G>A rs752203746 0.00001
NM_015046.7(SETX):c.7100+7C>T rs375256800 0.00001
NM_015046.7(SETX):c.7139G>A (p.Arg2380Gln) rs145397619 0.00001
NM_015046.7(SETX):c.7149T>A (p.Asp2383Glu) rs1325142907 0.00001
NM_015046.7(SETX):c.7157T>C (p.Ile2386Thr) rs201887051 0.00001
NM_015046.7(SETX):c.7163C>T (p.Thr2388Met) rs765418950 0.00001
NM_015046.7(SETX):c.7361A>C (p.Asn2454Thr) rs1456924846 0.00001
NM_015046.7(SETX):c.7413A>T (p.Arg2471Ser) rs1382990384 0.00001
NM_015046.7(SETX):c.7417C>G (p.Leu2473Val) rs760196991 0.00001
NM_015046.7(SETX):c.7427C>T (p.Pro2476Leu) rs767515528 0.00001
NM_015046.7(SETX):c.7568C>T (p.Thr2523Ile) rs772179602 0.00001
NM_015046.7(SETX):c.7612G>C (p.Asp2538His) rs1473906430 0.00001
NM_015046.7(SETX):c.7657A>G (p.Ile2553Val) rs546828646 0.00001
NM_015046.7(SETX):c.7720G>A (p.Glu2574Lys) rs145345675 0.00001
NM_015046.7(SETX):c.7840G>A (p.Glu2614Lys) rs539033545 0.00001
NM_015046.7(SETX):c.7972A>G (p.Arg2658Gly) rs779793402 0.00001
NM_015046.7(SETX):c.7979A>G (p.Asp2660Gly) rs567672087 0.00001
NM_015046.7(SETX):c.7995G>T (p.Glu2665Asp) rs1085307585 0.00001
NM_015046.7(SETX):c.820A>G (p.Met274Val) rs753713810 0.00001
NM_015046.7(SETX):c.832G>A (p.Ala278Thr) rs369035418 0.00001
NM_015046.7(SETX):c.866C>T (p.Ala289Val) rs1237541645 0.00001
NM_015046.7(SETX):c.967A>G (p.Ser323Gly) rs758625845 0.00001
NM_015046.7(SETX):c.998A>G (p.Asn333Ser) rs538829833 0.00001
NM_015046.7(SETX):c.*10G>C
NM_015046.7(SETX):c.*1282C>T rs1842469257
NM_015046.7(SETX):c.-114-2A>G
NM_015046.7(SETX):c.1004C>G (p.Ser335Cys) rs1475779702
NM_015046.7(SETX):c.1131T>G (p.Asp377Glu)
NM_015046.7(SETX):c.1273G>T (p.Gly425Cys) rs1428065074
NM_015046.7(SETX):c.1274G>C (p.Gly425Ala) rs1199659912
NM_015046.7(SETX):c.1343A>C (p.Asp448Ala) rs370363342
NM_015046.7(SETX):c.1427_1432del (p.His476_Leu477del) rs777314512
NM_015046.7(SETX):c.1508G>A (p.Ser503Asn) rs1085307770
NM_015046.7(SETX):c.152G>A (p.Arg51Lys) rs777256092
NM_015046.7(SETX):c.1573T>G (p.Ser525Ala) rs2131460183
NM_015046.7(SETX):c.1612C>G (p.Leu538Val)
NM_015046.7(SETX):c.1644G>C (p.Gln548His)
NM_015046.7(SETX):c.1658C>T (p.Ser553Phe) rs1589747116
NM_015046.7(SETX):c.1724dup (p.Leu576fs) rs2539131062
NM_015046.7(SETX):c.1837A>C (p.Lys613Gln) rs1847103646
NM_015046.7(SETX):c.1910G>A (p.Cys637Tyr) rs758089994
NM_015046.7(SETX):c.2040G>A (p.Glu680=) rs755050599
NM_015046.7(SETX):c.2180C>T (p.Thr727Ile) rs1156260662
NM_015046.7(SETX):c.2267A>G (p.Glu756Gly) rs202036078
NM_015046.7(SETX):c.2405G>A (p.Ser802Asn) rs1847058160
NM_015046.7(SETX):c.2489_2491dup (p.Gly830dup) rs2131452043
NM_015046.7(SETX):c.249TGA[4] (p.Asp85_Glu86insAsp)
NM_015046.7(SETX):c.2660A>G (p.Gln887Arg) rs769138877
NM_015046.7(SETX):c.2669A>G (p.His890Arg) rs2131450125
NM_015046.7(SETX):c.266T>C (p.Ile89Thr)
NM_015046.7(SETX):c.2721GAA[1] (p.Lys909del) rs751044720
NM_015046.7(SETX):c.2911G>C (p.Ala971Pro)
NM_015046.7(SETX):c.2958G>C (p.Gln986His) rs969060686
NM_015046.7(SETX):c.2996C>T (p.Thr999Ile)
NM_015046.7(SETX):c.3040ATT[2] (p.Ile1016del) rs765663814
NM_015046.7(SETX):c.3057TGA[4] (p.Asp1023_Asp1024del) rs572772837
NM_015046.7(SETX):c.3057TGA[5] (p.Asp1024del) rs572772837
NM_015046.7(SETX):c.32G>A (p.Gly11Asp) rs886063560
NM_015046.7(SETX):c.3307G>T (p.Val1103Phe)
NM_015046.7(SETX):c.3311A>C (p.Gln1104Pro) rs777787438
NM_015046.7(SETX):c.3350C>T (p.Thr1117Ile) rs1564541749
NM_015046.7(SETX):c.3353C>A (p.Thr1118Lys)
NM_015046.7(SETX):c.3398_3400del (p.Lys1133_Gly1134delinsArg)
NM_015046.7(SETX):c.351A>G (p.Ile117Met)
NM_015046.7(SETX):c.3545A>T (p.Asn1182Ile)
NM_015046.7(SETX):c.3564TAA[1] (p.Asn1189del) rs2131441680
NM_015046.7(SETX):c.3566A>G (p.Asn1189Ser) rs2539107336
NM_015046.7(SETX):c.3589G>A (p.Asp1197Asn) rs149558692
NM_015046.7(SETX):c.3601A>T (p.Ile1201Phe) rs1589740212
NM_015046.7(SETX):c.3626A>G (p.Asn1209Ser)
NM_015046.7(SETX):c.3641G>T (p.Arg1214Ile) rs763375641
NM_015046.7(SETX):c.3661AAG[1] (p.Lys1222del) rs1238089698
NM_015046.7(SETX):c.3683C>T (p.Thr1228Ile) rs921853577
NM_015046.7(SETX):c.370C>A (p.Leu124Ile) rs1488062133
NM_015046.7(SETX):c.3724C>G (p.Pro1242Ala) rs2539104989
NM_015046.7(SETX):c.377A>C (p.His126Pro) rs368932301
NM_015046.7(SETX):c.381A>C (p.Glu127Asp) rs1296707786
NM_015046.7(SETX):c.388+6T>C rs2131557145
NM_015046.7(SETX):c.3881G>A (p.Arg1294His) rs777857355
NM_015046.7(SETX):c.3890A>G (p.Tyr1297Cys) rs753285108
NM_015046.7(SETX):c.3904C>G (p.Arg1302Gly)
NM_015046.7(SETX):c.3905G>T (p.Arg1302Leu) rs1417093374
NM_015046.7(SETX):c.3941G>A (p.Gly1314Asp)
NM_015046.7(SETX):c.3950T>C (p.Val1317Ala) rs1564539968
NM_015046.7(SETX):c.3974A>G (p.Lys1325Arg) rs1224791323
NM_015046.7(SETX):c.3989C>T (p.Ser1330Phe) rs983278199
NM_015046.7(SETX):c.4020_4022del (p.Lys1341del) rs769558791
NM_015046.7(SETX):c.4076A>G (p.Gln1359Arg) rs2539100385
NM_015046.7(SETX):c.409C>G (p.Leu137Val)
NM_015046.7(SETX):c.4103G>T (p.Cys1368Phe) rs1445388214
NM_015046.7(SETX):c.4216G>A (p.Ala1406Thr)
NM_015046.7(SETX):c.4222A>C (p.Ser1408Arg)
NM_015046.7(SETX):c.4227C>G (p.Asn1409Lys) rs2539098296
NM_015046.7(SETX):c.4316T>C (p.Leu1439Ser) rs1589737441
NM_015046.7(SETX):c.4336G>T (p.Val1446Leu) rs1477696040
NM_015046.7(SETX):c.43A>T (p.Ile15Phe) rs151040199
NM_015046.7(SETX):c.4412C>T (p.Thr1471Ile) rs533403902
NM_015046.7(SETX):c.4424T>C (p.Ile1475Thr) rs765480069
NM_015046.7(SETX):c.4490T>A (p.Phe1497Tyr) rs2539095212
NM_015046.7(SETX):c.4517T>C (p.Met1506Thr) rs199974622
NM_015046.7(SETX):c.4517T>G (p.Met1506Arg) rs199974622
NM_015046.7(SETX):c.4600G>A (p.Asp1534Asn) rs746807833
NM_015046.7(SETX):c.4600G>C (p.Asp1534His) rs746807833
NM_015046.7(SETX):c.4626A>C (p.Glu1542Asp)
NM_015046.7(SETX):c.4645T>G (p.Cys1549Gly) rs1846829407
NM_015046.7(SETX):c.4679A>G (p.Asn1560Ser) rs2131430572
NM_015046.7(SETX):c.4698A>C (p.Pro1566=) rs2131430376
NM_015046.7(SETX):c.4717G>T (p.Ala1573Ser)
NM_015046.7(SETX):c.4723G>C (p.Asp1575His) rs781383567
NM_015046.7(SETX):c.4739G>A (p.Arg1580His) rs1846818781
NM_015046.7(SETX):c.4753CCT[2] (p.Pro1587del) rs1589735789
NM_015046.7(SETX):c.4763C>G (p.Ala1588Gly)
NM_015046.7(SETX):c.4814C>T (p.Ser1605Leu) rs2131429401
NM_015046.7(SETX):c.4870C>G (p.Leu1624Val) rs1846802831
NM_015046.7(SETX):c.4897_4899del (p.Ser1633del) rs2131428433
NM_015046.7(SETX):c.4898C>T (p.Ser1633Leu) rs1022473091
NM_015046.7(SETX):c.4924_4947del (p.Pro1642_Val1649del) rs2539089712
NM_015046.7(SETX):c.49T>C (p.Phe17Leu) rs2539259741
NM_015046.7(SETX):c.5009A>G (p.Gln1670Arg)
NM_015046.7(SETX):c.5026T>C (p.Phe1676Leu) rs2539088840
NM_015046.7(SETX):c.5118A>C (p.Leu1706Phe) rs2539087773
NM_015046.7(SETX):c.5168C>G (p.Ala1723Gly)
NM_015046.7(SETX):c.5180A>T (p.Gln1727Leu)
NM_015046.7(SETX):c.5258T>C (p.Leu1753Ser) rs2539086178
NM_015046.7(SETX):c.5274+4_5274+7del rs1846750267
NM_015046.7(SETX):c.5328A>C (p.Gln1776His) rs1589702061
NM_015046.7(SETX):c.5390G>A (p.Cys1797Tyr) rs2538981150
NM_015046.7(SETX):c.5428T>A (p.Leu1810Met) rs1182222248
NM_015046.7(SETX):c.546C>T (p.Asp182=) rs199748733
NM_015046.7(SETX):c.5549-5G>A rs1290116861
NM_015046.7(SETX):c.5590C>G (p.Gln1864Glu)
NM_015046.7(SETX):c.5645C>A (p.Ser1882Tyr) rs2538970247
NM_015046.7(SETX):c.5785G>A (p.Ala1929Thr)
NM_015046.7(SETX):c.5833G>C (p.Ala1945Pro) rs993066873
NM_015046.7(SETX):c.6083G>A (p.Cys2028Tyr) rs2538960449
NM_015046.7(SETX):c.6101C>T (p.Pro2034Leu)
NM_015046.7(SETX):c.6107-4A>G
NM_015046.7(SETX):c.6107-7T>A rs766634428
NM_015046.7(SETX):c.6321A>G (p.Ile2107Met)
NM_015046.7(SETX):c.6410C>T (p.Pro2137Leu)
NM_015046.7(SETX):c.6536T>C (p.Ile2179Thr) rs1366270093
NM_015046.7(SETX):c.6546+5G>C rs1564485095
NM_015046.7(SETX):c.6578C>T (p.Thr2193Ile) rs781013515
NM_015046.7(SETX):c.662T>C (p.Leu221Pro)
NM_015046.7(SETX):c.6655-8C>T
NM_015046.7(SETX):c.6683C>T (p.Ser2228Leu) rs764541704
NM_015046.7(SETX):c.668T>A (p.Leu223His) rs1211053963
NM_015046.7(SETX):c.6742A>G (p.Arg2248Gly)
NM_015046.7(SETX):c.6778A>T (p.Met2260Leu) rs768334505
NM_015046.7(SETX):c.6803C>T (p.Pro2268Leu) rs1415956081
NM_015046.7(SETX):c.6842+3G>A rs1843268894
NM_015046.7(SETX):c.6844C>G (p.Gln2282Glu) rs1372636285
NM_015046.7(SETX):c.6928G>A (p.Asp2310Asn) rs2538870831
NM_015046.7(SETX):c.6964C>G (p.Leu2322Val) rs2538863119
NM_015046.7(SETX):c.6976A>G (p.Ile2326Val) rs751216566
NM_015046.7(SETX):c.6989T>C (p.Ile2330Thr)
NM_015046.7(SETX):c.7055A>G (p.Lys2352Arg)
NM_015046.7(SETX):c.7074T>G (p.Asp2358Glu) rs138508512
NM_015046.7(SETX):c.7159_7160delinsTG (p.Val2387Cys)
NM_015046.7(SETX):c.7163C>G (p.Thr2388Arg) rs765418950
NM_015046.7(SETX):c.718+3G>C rs2131504173
NM_015046.7(SETX):c.727A>G (p.Met243Val) rs1847482777
NM_015046.7(SETX):c.7317G>C (p.Gln2439His) rs1842567381
NM_015046.7(SETX):c.7322C>T (p.Ala2441Val)
NM_015046.7(SETX):c.7399C>G (p.Pro2467Ala) rs2131114875
NM_015046.7(SETX):c.7439C>A (p.Ala2480Asp) rs376524608
NM_015046.7(SETX):c.7448G>A (p.Gly2483Glu) rs1564464281
NM_015046.7(SETX):c.7516G>A (p.Ala2506Thr) rs1160553456
NM_015046.7(SETX):c.7520C>G (p.Ser2507Cys) rs1373360956
NM_015046.7(SETX):c.7588C>T (p.Pro2530Ser) rs2538821210
NM_015046.7(SETX):c.7616C>T (p.Pro2539Leu)
NM_015046.7(SETX):c.7628A>T (p.Lys2543Met) rs2538820857
NM_015046.7(SETX):c.7660T>C (p.Phe2554Leu) rs368269464
NM_015046.7(SETX):c.7708CCT[1] (p.Pro2571del) rs770590408
NM_015046.7(SETX):c.7735G>A (p.Val2579Ile) rs144121978
NM_015046.7(SETX):c.7735G>T (p.Val2579Phe) rs144121978
NM_015046.7(SETX):c.7736T>C (p.Val2579Ala) rs2131112014
NM_015046.7(SETX):c.7770_7771insCTACAGCAGCGG (p.Pro2590_Ala2591insLeuGlnGlnArg) rs2538819622
NM_015046.7(SETX):c.7775C>T (p.Ala2592Val) rs1842534708
NM_015046.7(SETX):c.7786G>C (p.Ala2596Pro) rs200287592
NM_015046.7(SETX):c.7820A>G (p.Glu2607Gly) rs1554801389
NM_015046.7(SETX):c.7856A>G (p.Gln2619Arg) rs1421049695
NM_015046.7(SETX):c.785A>G (p.Lys262Arg) rs770255148
NM_015046.7(SETX):c.7895G>T (p.Arg2632Met) rs1315385196
NM_015046.7(SETX):c.7928A>G (p.Gln2643Arg) rs1842518697
NM_015046.7(SETX):c.7948_7961del (p.Thr2650fs) rs1214545867
NM_015046.7(SETX):c.7985G>A (p.Arg2662Lys) rs2131109746
NM_015046.7(SETX):c.8004C>G (p.Asp2668Glu)
NM_015046.7(SETX):c.838+4A>G rs1847472277
NM_015046.7(SETX):c.847G>A (p.Val283Met) rs1459722873
NM_015046.7(SETX):c.983T>C (p.Ile328Thr) rs2131468034
NM_015046.7(SETX):c.998A>C (p.Asn333Thr) rs538829833

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