ClinVar Miner

List of variants in gene SETX reported as uncertain significance for cerebellar ataxia

Included ClinVar conditions (255):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 495
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HGVS dbSNP gnomAD frequency
NM_015046.7(SETX):c.-107C>T rs190832998 0.00516
NM_015046.7(SETX):c.*254C>T rs11545230 0.00252
NM_015046.7(SETX):c.*1800C>T rs147200829 0.00144
NM_015046.7(SETX):c.-70T>C rs72765839 0.00131
NM_015046.7(SETX):c.3809C>T (p.Pro1270Leu) rs144334281 0.00122
NM_015046.7(SETX):c.3229G>A (p.Asp1077Asn) rs145097270 0.00105
NM_015046.7(SETX):c.4982C>G (p.Pro1661Arg) rs146873848 0.00080
NM_015046.7(SETX):c.192A>G (p.Leu64=) rs117326462 0.00078
NM_015046.7(SETX):c.5949+5G>A rs374656811 0.00078
NM_015046.7(SETX):c.2479A>G (p.Lys827Glu) rs150532677 0.00058
NM_015046.7(SETX):c.4197A>G (p.Thr1399=) rs148078248 0.00052
NM_015046.7(SETX):c.5473A>G (p.Thr1825Ala) rs151046729 0.00051
NM_015046.7(SETX):c.7914C>T (p.Phe2638=) rs80296256 0.00051
NM_015046.7(SETX):c.*1803G>A rs556145432 0.00046
NM_015046.7(SETX):c.*1454C>G rs561712582 0.00041
NM_015046.7(SETX):c.3826C>G (p.Gln1276Glu) rs148604312 0.00039
NM_015046.7(SETX):c.654G>C (p.Lys218Asn) rs117861188 0.00039
NM_015046.7(SETX):c.7432A>G (p.Thr2478Ala) rs142303658 0.00038
NM_015046.7(SETX):c.5283A>G (p.Gln1761=) rs139063885 0.00036
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.4096T>C (p.Ser1366Pro) rs140147684 0.00030
NM_015046.7(SETX):c.*1688A>G rs773351268 0.00027
NM_015046.7(SETX):c.*891T>C rs573743210 0.00025
NM_015046.7(SETX):c.*2384T>A rs570456500 0.00022
NM_015046.7(SETX):c.*988G>A rs182693244 0.00021
NM_015046.7(SETX):c.1391C>T (p.Ser464Leu) rs200614765 0.00021
NM_015046.7(SETX):c.*2065dup rs886063546 0.00019
NM_015046.7(SETX):c.7787C>T (p.Ala2596Val) rs200507089 0.00019
NM_015046.7(SETX):c.1066G>A (p.Val356Ile) rs143270460 0.00016
NM_015046.7(SETX):c.7195A>G (p.Ile2399Val) rs150489999 0.00016
NM_015046.7(SETX):c.7100+9T>C rs200088320 0.00015
NM_015046.7(SETX):c.7738G>A (p.Val2580Ile) rs370366576 0.00013
NM_015046.7(SETX):c.*2016G>A rs752950104 0.00012
NM_015046.7(SETX):c.4511A>G (p.Glu1504Gly) rs781275166 0.00012
NM_015046.7(SETX):c.1504C>T (p.Arg502Trp) rs534723946 0.00010
NM_015046.7(SETX):c.4020G>T (p.Lys1340Asn) rs368323660 0.00010
NM_015046.7(SETX):c.431A>G (p.Asn144Ser) rs767453182 0.00010
NM_015046.7(SETX):c.4631T>C (p.Leu1544Ser) rs754357821 0.00009
NM_015046.7(SETX):c.1221A>G (p.Thr407=) rs377618570 0.00008
NM_015046.7(SETX):c.1374T>G (p.Phe458Leu) rs201441886 0.00008
NM_015046.7(SETX):c.5271A>G (p.Glu1757=) rs200499115 0.00008
NM_015046.7(SETX):c.7979A>G (p.Asp2660Gly) rs567672087 0.00008
NM_015046.7(SETX):c.2469C>G (p.Phe823Leu) rs141163823 0.00007
NM_015046.7(SETX):c.3023C>G (p.Thr1008Ser) rs372021275 0.00007
NM_015046.7(SETX):c.*1523A>G rs758582946 0.00006
NM_015046.7(SETX):c.*1534G>A rs886063548 0.00006
NM_015046.7(SETX):c.*2610T>G rs530469492 0.00006
NM_015046.7(SETX):c.2717C>T (p.Ser906Leu) rs148375192 0.00006
NM_015046.7(SETX):c.3016G>A (p.Gly1006Arg) rs141266068 0.00006
NM_015046.7(SETX):c.5537G>A (p.Arg1846His) rs373571937 0.00006
NM_015046.7(SETX):c.5853C>G (p.His1951Gln) rs928020122 0.00006
NM_015046.7(SETX):c.6161G>A (p.Ser2054Asn) rs200778360 0.00006
NM_015046.7(SETX):c.658A>C (p.Lys220Gln) rs761180215 0.00006
NM_015046.7(SETX):c.6675C>T (p.Tyr2225=) rs200382898 0.00006
NM_015046.7(SETX):c.768G>T (p.Leu256=) rs759468738 0.00006
NM_015046.7(SETX):c.7874C>T (p.Pro2625Leu) rs553413088 0.00006
NM_015046.7(SETX):c.1015A>C (p.Lys339Gln) rs768437607 0.00005
NM_015046.7(SETX):c.4225A>T (p.Asn1409Tyr) rs373375060 0.00005
NM_015046.7(SETX):c.4865C>T (p.Pro1622Leu) rs140781535 0.00005
NM_015046.7(SETX):c.7406T>C (p.Leu2469Pro) rs151304085 0.00005
NM_015046.7(SETX):c.1416A>T (p.Lys472Asn) rs886063558 0.00004
NM_015046.7(SETX):c.1468G>A (p.Val490Ile) rs763545230 0.00004
NM_015046.7(SETX):c.146A>G (p.Lys49Arg) rs142551293 0.00004
NM_015046.7(SETX):c.2176T>C (p.Cys726Arg) rs377734748 0.00004
NM_015046.7(SETX):c.2935G>A (p.Asp979Asn) rs138287942 0.00004
NM_015046.7(SETX):c.3115A>G (p.Ile1039Val) rs372529790 0.00004
NM_015046.7(SETX):c.3968G>A (p.Arg1323Gln) rs369542231 0.00004
NM_015046.7(SETX):c.4828C>T (p.Leu1610Phe) rs749891883 0.00004
NM_015046.7(SETX):c.4979A>G (p.His1660Arg) rs371894414 0.00004
NM_015046.7(SETX):c.540A>G (p.Lys180=) rs757470639 0.00004
NM_015046.7(SETX):c.6122T>C (p.Ile2041Thr) rs140676924 0.00004
NM_015046.7(SETX):c.6435C>T (p.Ile2145=) rs374110190 0.00004
NM_015046.7(SETX):c.6910G>T (p.Asp2304Tyr) rs774458684 0.00004
NM_015046.7(SETX):c.9A>G (p.Thr3=) rs139681694 0.00004
NM_015046.7(SETX):c.2390A>G (p.Lys797Arg) rs1273786747 0.00003
NM_015046.7(SETX):c.267A>G (p.Ile89Met) rs767232097 0.00003
NM_015046.7(SETX):c.2755G>C (p.Val919Leu) rs561190371 0.00003
NM_015046.7(SETX):c.3117A>G (p.Ile1039Met) rs886063555 0.00003
NM_015046.7(SETX):c.3298A>G (p.Asn1100Asp) rs1230355404 0.00003
NM_015046.7(SETX):c.4291C>G (p.Pro1431Ala) rs371541705 0.00003
NM_015046.7(SETX):c.4685G>A (p.Gly1562Asp) rs771969117 0.00003
NM_015046.7(SETX):c.6085A>G (p.Lys2029Glu) rs746525639 0.00003
NM_015046.7(SETX):c.6396+8G>C rs752365500 0.00003
NM_015046.7(SETX):c.6829T>C (p.Leu2277=) rs189444354 0.00003
NM_015046.7(SETX):c.710A>G (p.Tyr237Cys) rs138538492 0.00003
NM_015046.7(SETX):c.7851G>A (p.Thr2617=) rs747616517 0.00003
NM_015046.7(SETX):c.806C>T (p.Ser269Leu) rs757988188 0.00003
NM_015046.7(SETX):c.*1442T>G rs886063549 0.00002
NM_015046.7(SETX):c.*491G>A rs1285017063 0.00002
NM_015046.7(SETX):c.*666C>G rs886063551 0.00002
NM_015046.7(SETX):c.1492A>G (p.Thr498Ala) rs779544809 0.00002
NM_015046.7(SETX):c.1858A>G (p.Asn620Asp) rs777081940 0.00002
NM_015046.7(SETX):c.2439A>C (p.Glu813Asp) rs190841601 0.00002
NM_015046.7(SETX):c.2842C>A (p.Pro948Thr) rs778882347 0.00002
NM_015046.7(SETX):c.3200C>T (p.Thr1067Ile) rs374091487 0.00002
NM_015046.7(SETX):c.343C>G (p.Leu115Val) rs538372427 0.00002
NM_015046.7(SETX):c.3605A>G (p.Asp1202Gly) rs138167195 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.4672A>G (p.Thr1558Ala) rs764920626 0.00002
NM_015046.7(SETX):c.5278G>A (p.Ala1760Thr) rs764316153 0.00002
NM_015046.7(SETX):c.5403A>C (p.Lys1801Asn) rs762071010 0.00002
NM_015046.7(SETX):c.5509C>T (p.His1837Tyr) rs749395151 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.6356T>C (p.Val2119Ala) rs781741533 0.00002
NM_015046.7(SETX):c.7089C>T (p.Phe2363=) rs141497098 0.00002
NM_015046.7(SETX):c.7330C>T (p.Arg2444Cys) rs372535542 0.00002
NM_015046.7(SETX):c.*13A>T rs1204954131 0.00001
NM_015046.7(SETX):c.*1420A>T rs751833631 0.00001
NM_015046.7(SETX):c.*1722A>G rs963398615 0.00001
NM_015046.7(SETX):c.*2287T>C rs1842428001 0.00001
NM_015046.7(SETX):c.*869C>T rs1354270999 0.00001
NM_015046.7(SETX):c.1012A>G (p.Thr338Ala) rs999767103 0.00001
NM_015046.7(SETX):c.1086A>C (p.Glu362Asp) rs768198537 0.00001
NM_015046.7(SETX):c.1204C>T (p.Arg402Cys) rs772044862 0.00001
NM_015046.7(SETX):c.1438G>T (p.Val480Leu) rs377301250 0.00001
NM_015046.7(SETX):c.1505G>A (p.Arg502Gln) rs750044197 0.00001
NM_015046.7(SETX):c.167T>C (p.Phe56Ser) rs1032816797 0.00001
NM_015046.7(SETX):c.1810A>G (p.Thr604Ala) rs957434595 0.00001
NM_015046.7(SETX):c.1951A>G (p.Lys651Glu) rs1015257691 0.00001
NM_015046.7(SETX):c.1989_1994del (p.Ile664_Glu665del) rs773195802 0.00001
NM_015046.7(SETX):c.2003A>G (p.Asn668Ser) rs780898043 0.00001
NM_015046.7(SETX):c.202C>T (p.Arg68Cys) rs771481623 0.00001
NM_015046.7(SETX):c.2125A>G (p.Thr709Ala) rs750530263 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.2278A>G (p.Thr760Ala) rs373647065 0.00001
NM_015046.7(SETX):c.2295C>A (p.Phe765Leu) rs771954896 0.00001
NM_015046.7(SETX):c.2607_2609del (p.Lys870del) rs781159054 0.00001
NM_015046.7(SETX):c.2749A>C (p.Met917Leu) rs761943404 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.2934C>T (p.Ser978=) rs144154512 0.00001
NM_015046.7(SETX):c.3028C>T (p.Arg1010Cys) rs766799023 0.00001
NM_015046.7(SETX):c.3040A>G (p.Ile1014Val) rs761243379 0.00001
NM_015046.7(SETX):c.3047T>C (p.Ile1016Thr) rs200856903 0.00001
NM_015046.7(SETX):c.3096A>T (p.Lys1032Asn) rs1846998334 0.00001
NM_015046.7(SETX):c.3221A>G (p.Glu1074Gly) rs752140967 0.00001
NM_015046.7(SETX):c.3332T>G (p.Leu1111Trp) rs1564541841 0.00001
NM_015046.7(SETX):c.3385G>A (p.Glu1129Lys) rs778505279 0.00001
NM_015046.7(SETX):c.3410G>A (p.Gly1137Asp) rs62576475 0.00001
NM_015046.7(SETX):c.3462A>C (p.Glu1154Asp) rs1297541939 0.00001
NM_015046.7(SETX):c.36T>C (p.Ala12=) rs1198947358 0.00001
NM_015046.7(SETX):c.382C>T (p.Arg128Cys) rs552476047 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.4045C>G (p.Gln1349Glu) rs146407699 0.00001
NM_015046.7(SETX):c.4114G>C (p.Asp1372His) rs1564539457 0.00001
NM_015046.7(SETX):c.4262C>G (p.Pro1421Arg) rs778111855 0.00001
NM_015046.7(SETX):c.4297A>G (p.Thr1433Ala) rs1038733632 0.00001
NM_015046.7(SETX):c.4417C>T (p.Arg1473Cys) rs781185115 0.00001
NM_015046.7(SETX):c.4459T>A (p.Ser1487Thr) rs772466321 0.00001
NM_015046.7(SETX):c.4759C>T (p.Pro1587Ser) rs916634082 0.00001
NM_015046.7(SETX):c.4885A>G (p.Lys1629Glu) rs1362908917 0.00001
NM_015046.7(SETX):c.4903T>A (p.Leu1635Met) rs1466879487 0.00001
NM_015046.7(SETX):c.4989T>A (p.Ser1663=) rs185338915 0.00001
NM_015046.7(SETX):c.5203G>A (p.Val1735Ile) rs752646721 0.00001
NM_015046.7(SETX):c.5279C>T (p.Ala1760Val) rs758411198 0.00001
NM_015046.7(SETX):c.5431G>A (p.Val1811Met) rs947336270 0.00001
NM_015046.7(SETX):c.5434T>A (p.Phe1812Ile) rs763771426 0.00001
NM_015046.7(SETX):c.5501A>G (p.His1834Arg) rs770822383 0.00001
NM_015046.7(SETX):c.5503G>A (p.Glu1835Lys) rs143133190 0.00001
NM_015046.7(SETX):c.5661A>G (p.Gln1887=) rs1589671916 0.00001
NM_015046.7(SETX):c.5697G>A (p.Arg1899=) rs765849036 0.00001
NM_015046.7(SETX):c.571G>A (p.Glu191Lys) rs929798338 0.00001
NM_015046.7(SETX):c.5786C>T (p.Ala1929Val) rs200571606 0.00001
NM_015046.7(SETX):c.5834C>T (p.Ala1945Val) rs1009296937 0.00001
NM_015046.7(SETX):c.5839G>A (p.Ala1947Thr) rs141440621 0.00001
NM_015046.7(SETX):c.5929C>T (p.Leu1977Phe) rs121434380 0.00001
NM_015046.7(SETX):c.5936G>A (p.Arg1979His) rs761031238 0.00001
NM_015046.7(SETX):c.598A>G (p.Ile200Val) rs1368588434 0.00001
NM_015046.7(SETX):c.6158A>G (p.Asn2053Ser) rs1429339677 0.00001
NM_015046.7(SETX):c.6172A>C (p.Lys2058Gln) rs747309962 0.00001
NM_015046.7(SETX):c.617A>G (p.Glu206Gly) rs759880306 0.00001
NM_015046.7(SETX):c.6193G>C (p.Val2065Leu) rs755531730 0.00001
NM_015046.7(SETX):c.6248G>T (p.Arg2083Ile) rs751252138 0.00001
NM_015046.7(SETX):c.6313C>T (p.Arg2105Trp) rs142843968 0.00001
NM_015046.7(SETX):c.6792A>G (p.Ile2264Met) rs148041889 0.00001
NM_015046.7(SETX):c.6838A>G (p.Asn2280Asp) rs1843269972 0.00001
NM_015046.7(SETX):c.6970A>T (p.Met2324Leu) rs781671592 0.00001
NM_015046.7(SETX):c.7103C>G (p.Pro2368Arg) rs1420833435 0.00001
NM_015046.7(SETX):c.7139G>A (p.Arg2380Gln) rs145397619 0.00001
NM_015046.7(SETX):c.71A>G (p.Asn24Ser) rs981346599 0.00001
NM_015046.7(SETX):c.7290A>T (p.Glu2430Asp) rs912160285 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.7475G>C (p.Ser2492Thr) rs1842557730 0.00001
NM_015046.7(SETX):c.7771G>A (p.Ala2591Thr) rs146862359 0.00001
NM_015046.7(SETX):c.7814G>A (p.Arg2605Gln) rs543247171 0.00001
NM_015046.7(SETX):c.823G>A (p.Glu275Lys) rs901741485 0.00001
NM_015046.7(SETX):c.865G>A (p.Ala289Thr) rs775579797 0.00001
NM_015046.7(SETX):c.866C>T (p.Ala289Val) rs1237541645 0.00001
NM_015046.7(SETX):c.980A>T (p.Glu327Val) rs1315992594 0.00001
NM_015046.7(SETX):c.998A>G (p.Asn333Ser) rs538829833 0.00001
NC_000009.11:g.(?_135139626)_(135158820_?)dup
NC_000009.11:g.(?_135156834)_(135156981_?)del
NC_000009.11:g.(?_135209975)_(135210134_?)del
NC_000009.11:g.(?_135209975)_(135210134_?)dup
NC_000009.12:g.(?_132264229)_(132349438_?)dup
NM_015046.7(SETX):c.*1050A>C rs1842477894
NM_015046.7(SETX):c.*1148T>C rs138991890
NM_015046.7(SETX):c.*1233A>G rs1388263414
NM_015046.7(SETX):c.*1433A>T rs886063550
NM_015046.7(SETX):c.*1487A>G rs1842460355
NM_015046.7(SETX):c.*1494A>G rs1327797847
NM_015046.7(SETX):c.*1713C>T rs771853459
NM_015046.7(SETX):c.*1987T>C rs1589593075
NM_015046.7(SETX):c.*2002A>G rs886063547
NM_015046.7(SETX):c.*2015C>T rs552487555
NM_015046.7(SETX):c.*2136A>T rs886063545
NM_015046.7(SETX):c.*2190A>G rs531640605
NM_015046.7(SETX):c.*2576_*2577del rs886063544
NM_015046.7(SETX):c.*2639T>C rs886063543
NM_015046.7(SETX):c.*266A>G rs575959163
NM_015046.7(SETX):c.*2753G>A rs886063542
NM_015046.7(SETX):c.*608G>C rs528924481
NM_015046.7(SETX):c.1006G>A (p.Val336Ile)
NM_015046.7(SETX):c.1011G>C (p.Arg337Ser)
NM_015046.7(SETX):c.1146G>A (p.Met382Ile)
NM_015046.7(SETX):c.1153G>A (p.Glu385Lys) rs1554821963
NM_015046.7(SETX):c.1285A>G (p.Ile429Val) rs747053403
NM_015046.7(SETX):c.12TTG[1] (p.Cys5del) rs774123592
NM_015046.7(SETX):c.1330C>T (p.Leu444Phe)
NM_015046.7(SETX):c.1358A>G (p.Lys453Arg) rs886063559
NM_015046.7(SETX):c.1397T>G (p.Ile466Ser) rs2131461800
NM_015046.7(SETX):c.1421G>A (p.Cys474Tyr) rs754200234
NM_015046.7(SETX):c.1427_1432del (p.His476_Leu477del) rs777314512
NM_015046.7(SETX):c.1496C>T (p.Ala499Val)
NM_015046.7(SETX):c.14G>C (p.Cys5Ser) rs1589791895
NM_015046.7(SETX):c.152G>A (p.Arg51Lys) rs777256092
NM_015046.7(SETX):c.1544C>T (p.Thr515Ile)
NM_015046.7(SETX):c.156T>C (p.Asp52=) rs1848476611
NM_015046.7(SETX):c.1573T>G (p.Ser525Ala) rs2131460183
NM_015046.7(SETX):c.1583C>T (p.Ser528Phe)
NM_015046.7(SETX):c.1585A>G (p.Asn529Asp) rs1847120441
NM_015046.7(SETX):c.173A>G (p.His58Arg)
NM_015046.7(SETX):c.177+6A>G rs2131575018
NM_015046.7(SETX):c.1784T>A (p.Ile595Lys)
NM_015046.7(SETX):c.1795G>A (p.Ala599Thr)
NM_015046.7(SETX):c.1841T>C (p.Ile614Thr)
NM_015046.7(SETX):c.1844C>T (p.Ser615Phe) rs143340285
NM_015046.7(SETX):c.1880T>A (p.Met627Lys)
NM_015046.7(SETX):c.1910G>A (p.Cys637Tyr)
NM_015046.7(SETX):c.1919C>A (p.Ala640Asp) rs998278975
NM_015046.7(SETX):c.1922C>G (p.Ser641Cys) rs886063557
NM_015046.7(SETX):c.1942_1944del (p.Glu648del)
NM_015046.7(SETX):c.1964G>C (p.Ser655Thr)
NM_015046.7(SETX):c.1991T>C (p.Ile664Thr)
NM_015046.7(SETX):c.1993G>A (p.Glu665Lys) rs1339144218
NM_015046.7(SETX):c.1993G>C (p.Glu665Gln) rs1339144218
NM_015046.7(SETX):c.1999G>A (p.Asp667Asn)
NM_015046.7(SETX):c.2057G>T (p.Gly686Val)
NM_015046.7(SETX):c.2114_2118del (p.Ile705fs)
NM_015046.7(SETX):c.2123G>T (p.Ser708Ile) rs1554821571
NM_015046.7(SETX):c.2124T>G (p.Ser708Arg)
NM_015046.7(SETX):c.2200A>G (p.Arg734Gly) rs2131454695
NM_015046.7(SETX):c.2241G>C (p.Leu747Phe)
NM_015046.7(SETX):c.2303A>T (p.Lys768Met) rs1554821462
NM_015046.7(SETX):c.2311G>C (p.Ala771Pro)
NM_015046.7(SETX):c.2320A>G (p.Lys774Glu) rs2131453786
NM_015046.7(SETX):c.2339C>T (p.Thr780Ile) rs1554821445
NM_015046.7(SETX):c.23C>T (p.Thr8Met) rs1057520367
NM_015046.7(SETX):c.2426T>C (p.Ile809Thr)
NM_015046.7(SETX):c.2443T>A (p.Leu815Met)
NM_015046.7(SETX):c.2483A>C (p.Asp828Ala)
NM_015046.7(SETX):c.2516A>T (p.His839Leu) rs1847047743
NM_015046.7(SETX):c.2517C>T (p.His839=) rs1464623855
NM_015046.7(SETX):c.2533C>T (p.Pro845Ser) rs1847046317
NM_015046.7(SETX):c.2536A>C (p.Ser846Arg) rs774820992
NM_015046.7(SETX):c.2580C>A (p.Asn860Lys)
NM_015046.7(SETX):c.25C>T (p.Pro9Ser)
NM_015046.7(SETX):c.2612A>G (p.Asn871Ser)
NM_015046.7(SETX):c.2622A>C (p.Leu874Phe)
NM_015046.7(SETX):c.2635T>C (p.Phe879Leu) rs2131450530
NM_015046.7(SETX):c.2641G>A (p.Glu881Lys)
NM_015046.7(SETX):c.2698A>G (p.Thr900Ala) rs1320466105
NM_015046.7(SETX):c.2721GAA[1] (p.Lys909del)
NM_015046.7(SETX):c.2773GAG[1] (p.Glu926del)
NM_015046.7(SETX):c.2783G>A (p.Ser928Asn) rs1258279869
NM_015046.7(SETX):c.2827G>C (p.Ala943Pro)
NM_015046.7(SETX):c.2849C>A (p.Ser950Tyr) rs1847020598
NM_015046.7(SETX):c.2878A>G (p.Arg960Gly)
NM_015046.7(SETX):c.2972T>C (p.Val991Ala)
NM_015046.7(SETX):c.3021T>A (p.Asp1007Glu) rs1847007637
NM_015046.7(SETX):c.3037_3039del (p.Val1013del)
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.3079_3080insAGG (p.Ile1027delinsLysVal)
NM_015046.7(SETX):c.3181C>T (p.Pro1061Ser)
NM_015046.7(SETX):c.3199A>C (p.Thr1067Pro)
NM_015046.7(SETX):c.3208C>G (p.Leu1070Val) rs931570379
NM_015046.7(SETX):c.3215A>G (p.Gln1072Arg)
NM_015046.7(SETX):c.3242T>C (p.Phe1081Ser) rs1564542121
NM_015046.7(SETX):c.3265G>A (p.Val1089Met) rs917637229
NM_015046.7(SETX):c.3269T>G (p.Phe1090Cys)
NM_015046.7(SETX):c.3279G>T (p.Trp1093Cys)
NM_015046.7(SETX):c.32G>A (p.Gly11Asp) rs886063560
NM_015046.7(SETX):c.3350C>T (p.Thr1117Ile) rs1564541749
NM_015046.7(SETX):c.3359G>A (p.Gly1120Asp) rs1278965355
NM_015046.7(SETX):c.3370A>G (p.Thr1124Ala) rs866546546
NM_015046.7(SETX):c.3376T>G (p.Tyr1126Asp) rs907569728
NM_015046.7(SETX):c.3399A>T (p.Lys1133Asn)
NM_015046.7(SETX):c.3422A>T (p.His1141Leu) rs1554820904
NM_015046.7(SETX):c.3469G>T (p.Val1157Leu) rs748505684
NM_015046.7(SETX):c.3497A>G (p.Glu1166Gly) rs1554820858
NM_015046.7(SETX):c.3532TCT[1] (p.Ser1179del)
NM_015046.7(SETX):c.3544A>T (p.Asn1182Tyr) rs1846954116
NM_015046.7(SETX):c.3598A>T (p.Ser1200Cys)
NM_015046.7(SETX):c.3620C>G (p.Thr1207Ser)
NM_015046.7(SETX):c.3649A>G (p.Thr1217Ala) rs1846942479
NM_015046.7(SETX):c.3661AAG[1] (p.Lys1222del) rs1238089698
NM_015046.7(SETX):c.3674A>T (p.Lys1225Met)
NM_015046.7(SETX):c.3676C>T (p.Leu1226Phe) rs2131440671
NM_015046.7(SETX):c.369_372del (p.Leu123fs)
NM_015046.7(SETX):c.3700A>G (p.Arg1234Gly)
NM_015046.7(SETX):c.3727A>G (p.Lys1243Glu)
NM_015046.7(SETX):c.3728A>G (p.Lys1243Arg) rs1467137301
NM_015046.7(SETX):c.3737A>C (p.His1246Pro) rs2131440106
NM_015046.7(SETX):c.3796_3798del (p.Pro1266del) rs2131439346
NM_015046.7(SETX):c.3816G>T (p.Lys1272Asn)
NM_015046.7(SETX):c.388+8T>G
NM_015046.7(SETX):c.389-9del rs534931548
NM_015046.7(SETX):c.3930A>C (p.Leu1310Phe)
NM_015046.7(SETX):c.3950T>C (p.Val1317Ala) rs1564539968
NM_015046.7(SETX):c.397T>G (p.Cys133Gly) rs766625711
NM_015046.7(SETX):c.3989C>T (p.Ser1330Phe)
NM_015046.7(SETX):c.3989CTC[1] (p.Pro1331del)
NM_015046.7(SETX):c.4020_4022del (p.Lys1341del) rs769558791
NM_015046.7(SETX):c.4031C>G (p.Thr1344Ser)
NM_015046.7(SETX):c.4053A>G (p.Gln1351=) rs886063553
NM_015046.7(SETX):c.4090_4092del (p.Arg1364del)
NM_015046.7(SETX):c.4145A>G (p.Gln1382Arg)
NM_015046.7(SETX):c.4181C>T (p.Ser1394Leu)
NM_015046.7(SETX):c.4187A>G (p.Tyr1396Cys)
NM_015046.7(SETX):c.4259A>G (p.Glu1420Gly)
NM_015046.7(SETX):c.4316T>C (p.Leu1439Ser) rs1589737441
NM_015046.7(SETX):c.4327G>A (p.Asp1443Asn)
NM_015046.7(SETX):c.4336G>T (p.Val1446Leu) rs1477696040
NM_015046.7(SETX):c.4352T>A (p.Val1451Glu)
NM_015046.7(SETX):c.4373T>C (p.Val1458Ala)
NM_015046.7(SETX):c.43A>G (p.Ile15Val) rs151040199
NM_015046.7(SETX):c.4468G>A (p.Asp1490Asn)
NM_015046.7(SETX):c.4472C>G (p.Ala1491Gly)
NM_015046.7(SETX):c.4517T>A (p.Met1506Lys) rs199974622
NM_015046.7(SETX):c.4517T>C (p.Met1506Thr) rs199974622
NM_015046.7(SETX):c.4547A>G (p.Asn1516Ser)
NM_015046.7(SETX):c.4601A>T (p.Asp1534Val) rs1554820219
NM_015046.7(SETX):c.4624G>A (p.Glu1542Lys) rs2131431252
NM_015046.7(SETX):c.4670C>G (p.Thr1557Ser) rs1554820196
NM_015046.7(SETX):c.470A>G (p.Tyr157Cys)
NM_015046.7(SETX):c.4723G>T (p.Asp1575Tyr) rs781383567
NM_015046.7(SETX):c.4753C>T (p.Pro1585Ser) rs1846817047
NM_015046.7(SETX):c.4753CCT[2] (p.Pro1587del)
NM_015046.7(SETX):c.4838C>A (p.Ser1613Tyr)
NM_015046.7(SETX):c.4847C>T (p.Thr1616Ile)
NM_015046.7(SETX):c.4898C>T (p.Ser1633Leu) rs1022473091
NM_015046.7(SETX):c.4924C>A (p.Pro1642Thr) rs375942182
NM_015046.7(SETX):c.4924_4947del (p.Pro1642_Val1649del)
NM_015046.7(SETX):c.4934C>G (p.Ala1645Gly)
NM_015046.7(SETX):c.4945G>T (p.Val1649Phe)
NM_015046.7(SETX):c.4972G>A (p.Val1658Ile)
NM_015046.7(SETX):c.5006G>A (p.Arg1669Lys)
NM_015046.7(SETX):c.5024del (p.Pro1675fs) rs1554820021
NM_015046.7(SETX):c.5159G>C (p.Gly1720Ala)
NM_015046.7(SETX):c.5211T>G (p.Phe1737Leu) rs1846757741
NM_015046.7(SETX):c.5263A>G (p.Thr1755Ala)
NM_015046.7(SETX):c.5267T>A (p.Phe1756Tyr) rs762175796
NM_015046.7(SETX):c.5309A>G (p.Glu1770Gly)
NM_015046.7(SETX):c.5315T>C (p.Phe1772Ser) rs886063552
NM_015046.7(SETX):c.5339T>A (p.Phe1780Tyr)
NM_015046.7(SETX):c.5362T>C (p.Trp1788Arg)
NM_015046.7(SETX):c.5362T>G (p.Trp1788Gly)
NM_015046.7(SETX):c.5378A>T (p.Tyr1793Phe)
NM_015046.7(SETX):c.5385A>C (p.Glu1795Asp)
NM_015046.7(SETX):c.5453T>C (p.Ile1818Thr)
NM_015046.7(SETX):c.5488A>C (p.Ile1830Leu)
NM_015046.7(SETX):c.5491C>G (p.Gln1831Glu) rs2131306081
NM_015046.7(SETX):c.5587A>T (p.Thr1863Ser)
NM_015046.7(SETX):c.5638A>G (p.Ile1880Val)
NM_015046.7(SETX):c.5754T>A (p.Asp1918Glu)
NM_015046.7(SETX):c.5761A>C (p.Thr1921Pro) rs1844774142
NM_015046.7(SETX):c.5803A>G (p.Asn1935Asp) rs1443102808
NM_015046.7(SETX):c.5809G>T (p.Asp1937Tyr) rs1844714133
NM_015046.7(SETX):c.5809_5811delinsTAC (p.Asp1937Tyr) rs1844713785
NM_015046.7(SETX):c.5824A>G (p.Ile1942Val)
NM_015046.7(SETX):c.5852A>T (p.His1951Leu)
NM_015046.7(SETX):c.5890C>T (p.Pro1964Ser) rs1403263153
NM_015046.7(SETX):c.589T>A (p.Phe197Ile) rs1847622210
NM_015046.7(SETX):c.58C>T (p.Arg20Cys)
NM_015046.7(SETX):c.590T>C (p.Phe197Ser) rs1847622037
NM_015046.7(SETX):c.592A>G (p.Lys198Glu)
NM_015046.7(SETX):c.5949+4_5949+7del rs1844702677
NM_015046.7(SETX):c.5949G>A (p.Glu1983=) rs2131289331
NM_015046.7(SETX):c.5986G>T (p.Ala1996Ser) rs2131284986
NM_015046.7(SETX):c.6037G>A (p.Val2013Ile)
NM_015046.7(SETX):c.60C>T (p.Arg20=) rs553346505
NM_015046.7(SETX):c.6106+8A>G rs1314479594
NM_015046.7(SETX):c.6107-3C>T
NM_015046.7(SETX):c.6107-7T>A rs766634428
NM_015046.7(SETX):c.6139G>T (p.Gly2047Cys) rs762479596
NM_015046.7(SETX):c.617A>C (p.Glu206Ala) rs759880306
NM_015046.7(SETX):c.6181T>A (p.Leu2061Met) rs2131247894
NM_015046.7(SETX):c.6209-12T>G
NM_015046.7(SETX):c.6227A>C (p.His2076Pro)
NM_015046.7(SETX):c.6314G>A (p.Arg2105Gln)
NM_015046.7(SETX):c.6323A>C (p.Gln2108Pro)
NM_015046.7(SETX):c.6324+5C>G
NM_015046.7(SETX):c.6338A>T (p.Asp2113Val) rs1589647043
NM_015046.7(SETX):c.6341A>G (p.Glu2114Gly) rs957607977
NM_015046.7(SETX):c.6439G>C (p.Glu2147Gln) rs1387036733
NM_015046.7(SETX):c.6464T>G (p.Leu2155Trp) rs1473613373
NM_015046.7(SETX):c.64G>T (p.Ala22Ser) rs756600708
NM_015046.7(SETX):c.6502C>T (p.Arg2168Cys) rs1843647719
NM_015046.7(SETX):c.6554A>T (p.Gln2185Leu) rs1843510567
NM_015046.7(SETX):c.6605T>G (p.Leu2202Arg)
NM_015046.7(SETX):c.6637C>G (p.Pro2213Ala) rs1843502057
NM_015046.7(SETX):c.6638C>T (p.Pro2213Leu) rs28940290
NM_015046.7(SETX):c.6654+5G>A rs1843497922
NM_015046.7(SETX):c.667C>A (p.Leu223Ile) rs774068411
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.6712G>A (p.Glu2238Lys) rs2131182464
NM_015046.7(SETX):c.6733A>G (p.Met2245Val)
NM_015046.7(SETX):c.6764C>T (p.Thr2255Ile)
NM_015046.7(SETX):c.6790A>T (p.Ile2264Leu) rs1843274414
NM_015046.7(SETX):c.6808A>C (p.Asn2270His) rs1843272035
NM_015046.7(SETX):c.6809A>G (p.Asn2270Ser)
NM_015046.7(SETX):c.6815T>C (p.Val2272Ala) rs1843271572
NM_015046.7(SETX):c.6843-6_6843-5dup rs34769225
NM_015046.7(SETX):c.6853G>A (p.Ala2285Thr)
NM_015046.7(SETX):c.6931_6933del (p.Asn2311del)
NM_015046.7(SETX):c.6964C>G (p.Leu2322Val)
NM_015046.7(SETX):c.6967G>A (p.Val2323Met)
NM_015046.7(SETX):c.7007A>T (p.Asp2336Val)
NM_015046.7(SETX):c.7100+3G>A rs752203746
NM_015046.7(SETX):c.7100+7C>T
NM_015046.7(SETX):c.7101-16T>C
NM_015046.7(SETX):c.7157T>C (p.Ile2386Thr) rs201887051
NM_015046.7(SETX):c.718+3G>C rs2131504173
NM_015046.7(SETX):c.7190G>A (p.Gly2397Asp) rs2131148064
NM_015046.7(SETX):c.7195A>T (p.Ile2399Phe) rs150489999
NM_015046.7(SETX):c.727A>G (p.Met243Val)
NM_015046.7(SETX):c.7309C>G (p.Leu2437Val) rs1564464665
NM_015046.7(SETX):c.7324C>T (p.Gln2442Ter)
NM_015046.7(SETX):c.7339A>C (p.Ile2447Leu)
NM_015046.7(SETX):c.7370A>G (p.His2457Arg) rs753051382
NM_015046.7(SETX):c.7375G>A (p.Ala2459Thr) rs1182285610
NM_015046.7(SETX):c.737C>G (p.Thr246Ser) rs1847481832
NM_015046.7(SETX):c.7396A>C (p.Lys2466Gln)
NM_015046.7(SETX):c.7427C>A (p.Pro2476His) rs767515528
NM_015046.7(SETX):c.7433C>G (p.Thr2478Ser) rs771027936
NM_015046.7(SETX):c.7444G>A (p.Glu2482Lys) rs2131114345
NM_015046.7(SETX):c.7461G>C (p.Gln2487His)
NM_015046.7(SETX):c.7482G>C (p.Lys2494Asn) rs1564464193
NM_015046.7(SETX):c.7488C>G (p.Asp2496Glu)
NM_015046.7(SETX):c.7516G>A (p.Ala2506Thr) rs1160553456
NM_015046.7(SETX):c.7530C>G (p.His2510Gln) rs1303389955
NM_015046.7(SETX):c.7534C>T (p.Pro2512Ser) rs557347174
NM_015046.7(SETX):c.7549G>A (p.Glu2517Lys)
NM_015046.7(SETX):c.7582G>A (p.Glu2528Lys) rs2131113325
NM_015046.7(SETX):c.7584A>C (p.Glu2528Asp) rs2131113303
NM_015046.7(SETX):c.7585A>G (p.Arg2529Gly)
NM_015046.7(SETX):c.7610A>G (p.Gln2537Arg) rs2131113093
NM_015046.7(SETX):c.7634T>A (p.Met2545Lys)
NM_015046.7(SETX):c.7637del (p.Gly2546fs)
NM_015046.7(SETX):c.7641dup (p.Glu2548Ter) rs1039417117
NM_015046.7(SETX):c.7648A>G (p.Lys2550Glu) rs1842546596
NM_015046.7(SETX):c.7667G>T (p.Trp2556Leu)
NM_015046.7(SETX):c.7708CCT[1] (p.Pro2571del) rs770590408
NM_015046.7(SETX):c.7712C>G (p.Pro2571Arg)
NM_015046.7(SETX):c.7735G>A (p.Val2579Ile) rs144121978
NM_015046.7(SETX):c.7736T>G (p.Val2579Gly) rs2131112014
NM_015046.7(SETX):c.7750C>G (p.Leu2584Val)
NM_015046.7(SETX):c.7750C>T (p.Leu2584=) rs1842537896
NM_015046.7(SETX):c.7763A>G (p.Gln2588Arg)
NM_015046.7(SETX):c.7764_7765delinsTT (p.Gln2588_Gln2589delinsHisTer) rs2131111712
NM_015046.7(SETX):c.7775C>T (p.Ala2592Val) rs1842534708
NM_015046.7(SETX):c.77C>G (p.Pro26Arg) rs377617692
NM_015046.7(SETX):c.7825C>G (p.Pro2609Ala) rs765888424
NM_015046.7(SETX):c.7843G>A (p.Ala2615Thr) rs979454428
NM_015046.7(SETX):c.784A>G (p.Lys262Glu) rs2131492208
NM_015046.7(SETX):c.7856A>G (p.Gln2619Arg) rs1421049695
NM_015046.7(SETX):c.7860C>A (p.Ser2620Arg) rs778362262
NM_015046.7(SETX):c.7924_7925delinsTT (p.Glu2642Leu)
NM_015046.7(SETX):c.7948_7961del (p.Thr2650fs)
NM_015046.7(SETX):c.7984del (p.Arg2662fs) rs2131109788
NM_015046.7(SETX):c.8022_8025del (p.Arg2674fs)
NM_015046.7(SETX):c.8030dup (p.Leu2677fs)
NM_015046.7(SETX):c.8031A>T (p.Leu2677Phe) rs749325764
NM_015046.7(SETX):c.823G>C (p.Glu275Gln) rs901741485
NM_015046.7(SETX):c.878T>G (p.Phe293Cys)
NM_015046.7(SETX):c.928G>A (p.Asp310Asn)
NM_015046.7(SETX):c.988C>T (p.His330Tyr) rs1847220041

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