ClinVar Miner

List of variants in gene SETX reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 255
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HGVS dbSNP
NC_000009.12:g.(?_132264229)_(132349438_?)dup
NC_000009.12:g.(?_132334598)_(132334737_?)del
NM_015046.5(SETX):c.6848_6851delCAGA (p.Thr2283Lysfs) rs398124286
NM_015046.7(SETX):c.1066G>A (p.Val356Ile)
NM_015046.7(SETX):c.1153G>A (p.Glu385Lys) rs1554821963
NM_015046.7(SETX):c.1166T>C (p.Leu389Ser) rs29001584
NM_015046.7(SETX):c.1204C>T (p.Arg402Cys) rs772044862
NM_015046.7(SETX):c.1343A>G (p.Asp448Gly) rs370363342
NM_015046.7(SETX):c.1374T>G (p.Phe458Leu) rs201441886
NM_015046.7(SETX):c.1391C>T (p.Ser464Leu) rs200614765
NM_015046.7(SETX):c.1421G>A (p.Cys474Tyr)
NM_015046.7(SETX):c.1468G>A (p.Val490Ile) rs763545230
NM_015046.7(SETX):c.14G>C (p.Cys5Ser)
NM_015046.7(SETX):c.1561C>T (p.Leu521=) rs148638979
NM_015046.7(SETX):c.1576A>G (p.Met526Val) rs762013471
NM_015046.7(SETX):c.1626C>T (p.Leu542=) rs746541015
NM_015046.7(SETX):c.1668G>A (p.Lys556=)
NM_015046.7(SETX):c.167T>C (p.Phe56Ser)
NM_015046.7(SETX):c.1690T>G (p.Leu564Val) rs761877146
NM_015046.7(SETX):c.1693T>C (p.Phe565Leu) rs143982186
NM_015046.7(SETX):c.1714C>G (p.Leu572Val)
NM_015046.7(SETX):c.172C>T (p.His58Tyr) rs757760067
NM_015046.7(SETX):c.1750C>G (p.Leu584Val) rs764995848
NM_015046.7(SETX):c.1807A>G (p.Asn603Asp) rs116205032
NM_015046.7(SETX):c.1815T>C (p.Phe605=)
NM_015046.7(SETX):c.1869A>C (p.Glu623Asp) rs139200312
NM_015046.7(SETX):c.1880T>C (p.Met627Thr) rs199707503
NM_015046.7(SETX):c.192A>G (p.Leu64=) rs117326462
NM_015046.7(SETX):c.1957C>A (p.Gln653Lys) rs116333061
NM_015046.7(SETX):c.1968A>G (p.Val656=) rs113997459
NM_015046.7(SETX):c.2003A>G (p.Asn668Ser) rs780898043
NM_015046.7(SETX):c.2005A>T (p.Asn669Tyr) rs143727702
NM_015046.7(SETX):c.208A>G (p.Ile70Val) rs747469176
NM_015046.7(SETX):c.2113A>C (p.Ile705Leu) rs34781846
NM_015046.7(SETX):c.2123G>T (p.Ser708Ile) rs1554821571
NM_015046.7(SETX):c.2124T>C (p.Ser708=) rs139236924
NM_015046.7(SETX):c.2216G>A (p.Gly739Glu) rs36024203
NM_015046.7(SETX):c.2232A>C (p.Thr744=)
NM_015046.7(SETX):c.2254A>G (p.Thr752Ala) rs745938575
NM_015046.7(SETX):c.2282C>T (p.Ser761Leu) rs200153024
NM_015046.7(SETX):c.2303A>T (p.Lys768Met) rs1554821462
NM_015046.7(SETX):c.2339C>T (p.Thr780Ile) rs1554821445
NM_015046.7(SETX):c.234G>A (p.Lys78=)
NM_015046.7(SETX):c.2395C>T (p.His799Tyr) rs200459144
NM_015046.7(SETX):c.2399G>T (p.Arg800Met)
NM_015046.7(SETX):c.2401A>G (p.Lys801Glu) rs149718424
NM_015046.7(SETX):c.2404A>G (p.Ser802Gly) rs1400027699
NM_015046.7(SETX):c.2411T>C (p.Leu804Ser) rs201096140
NM_015046.7(SETX):c.2446A>G (p.Thr816Ala) rs369470593
NM_015046.7(SETX):c.2479A>G (p.Lys827Glu) rs150532677
NM_015046.7(SETX):c.2502A>G (p.Gly834=) rs762818441
NM_015046.7(SETX):c.2533C>T (p.Pro845Ser)
NM_015046.7(SETX):c.2552A>T (p.Asp851Val)
NM_015046.7(SETX):c.263A>G (p.Tyr88Cys) rs149276791
NM_015046.7(SETX):c.2672T>C (p.Val891Ala) rs148181729
NM_015046.7(SETX):c.2717C>T (p.Ser906Leu) rs148375192
NM_015046.7(SETX):c.2730A>C (p.Ser910=) rs764898504
NM_015046.7(SETX):c.2749A>C (p.Met917Leu) rs761943404
NM_015046.7(SETX):c.2750T>C (p.Met917Thr) rs376022544
NM_015046.7(SETX):c.2755G>C (p.Val919Leu) rs561190371
NM_015046.7(SETX):c.2854A>G (p.Thr952Ala) rs1375463032
NM_015046.7(SETX):c.2924C>T (p.Thr975Met)
NM_015046.7(SETX):c.2954C>T (p.Ser985Leu)
NM_015046.7(SETX):c.2955G>A (p.Ser985=)
NM_015046.7(SETX):c.2958G>A (p.Gln986=) rs969060686
NM_015046.7(SETX):c.2975A>G (p.Lys992Arg) rs61742937
NM_015046.7(SETX):c.2981A>G (p.Asp994Gly)
NM_015046.7(SETX):c.3010A>G (p.Asn1004Asp) rs77984885
NM_015046.7(SETX):c.3016G>A (p.Gly1006Arg) rs141266068
NM_015046.7(SETX):c.3018A>C (p.Gly1006=)
NM_015046.7(SETX):c.3040A>G (p.Ile1014Val)
NM_015046.7(SETX):c.3053A>G (p.Asp1018Gly) rs768510428
NM_015046.7(SETX):c.3057_3059TGA[4] (p.Asp1023_Asp1024del) rs572772837
NM_015046.7(SETX):c.3057_3059TGA[7] (p.Asp1024dup) rs572772837
NM_015046.7(SETX):c.3090T>C (p.Leu1030=) rs368677513
NM_015046.7(SETX):c.3162_3167del (p.Asn1054_Ser1055del) rs576141809
NM_015046.7(SETX):c.3182C>T (p.Pro1061Leu) rs12352982
NM_015046.7(SETX):c.3210T>C (p.Leu1070=)
NM_015046.7(SETX):c.3229G>A (p.Asp1077Asn) rs145097270
NM_015046.7(SETX):c.3299A>C (p.Asn1100Thr)
NM_015046.7(SETX):c.3299A>G (p.Asn1100Ser)
NM_015046.7(SETX):c.3310C>G (p.Gln1104Glu) rs113831637
NM_015046.7(SETX):c.3332T>G (p.Leu1111Trp) rs1564541841
NM_015046.7(SETX):c.3336T>C (p.Ala1112=) rs150687078
NM_015046.7(SETX):c.3341T>C (p.Ile1114Thr) rs760535401
NM_015046.7(SETX):c.3345C>G (p.Ala1115=) rs142020270
NM_015046.7(SETX):c.33T>C (p.Gly11=) rs1243832257
NM_015046.7(SETX):c.3422A>T (p.His1141Leu) rs1554820904
NM_015046.7(SETX):c.3433C>T (p.Arg1145Trp)
NM_015046.7(SETX):c.3450A>G (p.Glu1150=)
NM_015046.7(SETX):c.3462A>C (p.Glu1154Asp) rs1297541939
NM_015046.7(SETX):c.3469G>T (p.Val1157Leu) rs748505684
NM_015046.7(SETX):c.3525G>A (p.Arg1175=)
NM_015046.7(SETX):c.3544A>T (p.Asn1182Tyr)
NM_015046.7(SETX):c.3568A>G (p.Lys1190Glu) rs35473230
NM_015046.7(SETX):c.3587A>G (p.Asn1196Ser)
NM_015046.7(SETX):c.3603T>C (p.Ile1201=)
NM_015046.7(SETX):c.3650C>T (p.Thr1217Met)
NM_015046.7(SETX):c.3651G>A (p.Thr1217=)
NM_015046.7(SETX):c.3651G>C (p.Thr1217=) rs111419285
NM_015046.7(SETX):c.3651G>T (p.Thr1217=) rs111419285
NM_015046.7(SETX):c.3663G>C (p.Lys1221Asn) rs12344006
NM_015046.7(SETX):c.3728A>G (p.Lys1243Arg) rs1467137301
NM_015046.7(SETX):c.3802A>G (p.Ile1268Val) rs764516725
NM_015046.7(SETX):c.3809C>T (p.Pro1270Leu) rs144334281
NM_015046.7(SETX):c.3813A>G (p.Pro1271=) rs759945253
NM_015046.7(SETX):c.3823C>T (p.Arg1275Cys) rs760272692
NM_015046.7(SETX):c.3826C>G (p.Gln1276Glu) rs148604312
NM_015046.7(SETX):c.3950T>C (p.Val1317Ala) rs1564539968
NM_015046.7(SETX):c.3955G>A (p.Val1319Ile)
NM_015046.7(SETX):c.3966C>A (p.Thr1322=)
NM_015046.7(SETX):c.3992C>T (p.Pro1331Leu) rs11243731
NM_015046.7(SETX):c.399T>C (p.Cys133=)
NM_015046.7(SETX):c.4020G>T (p.Lys1340Asn) rs368323660
NM_015046.7(SETX):c.4045C>G (p.Gln1349Glu) rs146407699
NM_015046.7(SETX):c.4051C>G (p.Gln1351Glu) rs375241191
NM_015046.7(SETX):c.4096T>C (p.Ser1366Pro) rs140147684
NM_015046.7(SETX):c.4103G>T (p.Cys1368Phe) rs1445388214
NM_015046.7(SETX):c.4113A>G (p.Thr1371=) rs750697305
NM_015046.7(SETX):c.4114G>C (p.Asp1372His) rs1564539457
NM_015046.7(SETX):c.4197A>G (p.Thr1399=) rs148078248
NM_015046.7(SETX):c.4209G>A (p.Glu1403=)
NM_015046.7(SETX):c.4225A>T (p.Asn1409Tyr) rs373375060
NM_015046.7(SETX):c.4262C>G (p.Pro1421Arg)
NM_015046.7(SETX):c.4273A>G (p.Lys1425Glu) rs534886444
NM_015046.7(SETX):c.4316T>C (p.Leu1439Ser)
NM_015046.7(SETX):c.431A>G (p.Asn144Ser) rs767453182
NM_015046.7(SETX):c.4353A>G (p.Val1451=)
NM_015046.7(SETX):c.4369A>G (p.Ile1457Val) rs747804357
NM_015046.7(SETX):c.4386A>G (p.Glu1462=) rs1554820336
NM_015046.7(SETX):c.4433C>A (p.Ala1478Glu) rs143661911
NM_015046.7(SETX):c.4436C>T (p.Ala1479Val) rs761119964
NM_015046.7(SETX):c.4459T>A (p.Ser1487Thr)
NM_015046.7(SETX):c.4563A>G (p.Glu1521=) rs374149839
NM_015046.7(SETX):c.4601A>T (p.Asp1534Val) rs1554820219
NM_015046.7(SETX):c.4612C>T (p.Arg1538Trp) rs147018359
NM_015046.7(SETX):c.4660T>G (p.Cys1554Gly) rs112089123
NM_015046.7(SETX):c.4662T>C (p.Cys1554=)
NM_015046.7(SETX):c.4663C>G (p.Leu1555Val) rs558075773
NM_015046.7(SETX):c.4670C>G (p.Thr1557Ser) rs1554820196
NM_015046.7(SETX):c.4677A>G (p.Lys1559=) rs200123129
NM_015046.7(SETX):c.4683G>C (p.Gln1561His) rs772991134
NM_015046.7(SETX):c.4707T>C (p.Ser1569=) rs769964668
NM_015046.7(SETX):c.472T>G (p.Leu158Val) rs145438764
NM_015046.7(SETX):c.4755T>G (p.Pro1585=) rs151237267
NM_015046.7(SETX):c.4757C>T (p.Pro1586Leu) rs1165229035
NM_015046.7(SETX):c.4759C>T (p.Pro1587Ser) rs916634082
NM_015046.7(SETX):c.4828C>T (p.Leu1610Phe) rs749891883
NM_015046.7(SETX):c.4866G>A (p.Pro1622=) rs779472573
NM_015046.7(SETX):c.4872A>G (p.Leu1624=)
NM_015046.7(SETX):c.4903T>A (p.Leu1635Met) rs1466879487
NM_015046.7(SETX):c.4906A>G (p.Lys1636Glu)
NM_015046.7(SETX):c.4979A>G (p.His1660Arg) rs371894414
NM_015046.7(SETX):c.4982C>G (p.Pro1661Arg) rs146873848
NM_015046.7(SETX):c.499-9T>C
NM_015046.7(SETX):c.5051C>G (p.Ser1684Cys) rs140116005
NM_015046.7(SETX):c.5071C>A (p.Leu1691Ile)
NM_015046.7(SETX):c.5104G>A (p.Val1702Ile) rs61745659
NM_015046.7(SETX):c.5130T>C (p.Tyr1710=)
NM_015046.7(SETX):c.5211T>G (p.Phe1737Leu)
NM_015046.7(SETX):c.5264del (p.Thr1755fs) rs776632212
NM_015046.7(SETX):c.5274+8T>C
NM_015046.7(SETX):c.5279C>T (p.Ala1760Val)
NM_015046.7(SETX):c.5283A>G (p.Gln1761=) rs139063885
NM_015046.7(SETX):c.5346C>T (p.Ala1782=)
NM_015046.7(SETX):c.5375-18CTT[2] rs201317659
NM_015046.7(SETX):c.5375-9G>C
NM_015046.7(SETX):c.5431G>A (p.Val1811Met)
NM_015046.7(SETX):c.5464A>G (p.Lys1822Glu) rs1249423284
NM_015046.7(SETX):c.5473A>G (p.Thr1825Ala)
NM_015046.7(SETX):c.5503G>A (p.Glu1835Lys)
NM_015046.7(SETX):c.5536C>T (p.Arg1846Cys)
NM_015046.7(SETX):c.5616C>T (p.Asn1872=)
NM_015046.7(SETX):c.5767A>G (p.Thr1923Ala) rs372993859
NM_015046.7(SETX):c.5781+10G>A rs537414669
NM_015046.7(SETX):c.5782-6A>G
NM_015046.7(SETX):c.5803A>G (p.Asn1935Asp)
NM_015046.7(SETX):c.5814A>G (p.Gln1938=)
NM_015046.7(SETX):c.5835A>G (p.Ala1945=)
NM_015046.7(SETX):c.5859A>G (p.Pro1953=)
NM_015046.7(SETX):c.5901A>G (p.Thr1967=) rs780717865
NM_015046.7(SETX):c.5949+5G>A rs374656811
NM_015046.7(SETX):c.5998C>G (p.Gln2000Glu) rs142917412
NM_015046.7(SETX):c.59G>A (p.Arg20His) rs79740039
NM_015046.7(SETX):c.6058A>G (p.Ile2020Val)
NM_015046.7(SETX):c.6108A>G (p.Gly2036=) rs35815657
NM_015046.7(SETX):c.6122T>C (p.Ile2041Thr)
NM_015046.7(SETX):c.6161G>A (p.Ser2054Asn)
NM_015046.7(SETX):c.6276T>C (p.Asp2092=)
NM_015046.7(SETX):c.6338A>T (p.Asp2113Val)
NM_015046.7(SETX):c.6351C>T (p.Ser2117=)
NM_015046.7(SETX):c.6474T>C (p.Ser2158=)
NM_015046.7(SETX):c.64G>T (p.Ala22Ser) rs756600708
NM_015046.7(SETX):c.6507G>A (p.Gly2169=) rs34073320
NM_015046.7(SETX):c.654G>C (p.Lys218Asn) rs117861188
NM_015046.7(SETX):c.6554A>T (p.Gln2185Leu)
NM_015046.7(SETX):c.667C>G (p.Leu223Val) rs774068411
NM_015046.7(SETX):c.6762C>T (p.Leu2254=)
NM_015046.7(SETX):c.6771G>A (p.Gln2257=)
NM_015046.7(SETX):c.6843-16_6843-15dup rs34769225
NM_015046.7(SETX):c.6843-3_6843-1del
NM_015046.7(SETX):c.68C>T (p.Ser23Phe) rs1323126988
NM_015046.7(SETX):c.6922A>G (p.Arg2308Gly) rs370135596
NM_015046.7(SETX):c.7089C>T (p.Phe2363=)
NM_015046.7(SETX):c.7092T>C (p.Asp2364=)
NM_015046.7(SETX):c.7100+9T>C rs200088320
NM_015046.7(SETX):c.7101A>G (p.Gly2367=) rs79233884
NM_015046.7(SETX):c.7114G>A (p.Asp2372Asn) rs150673589
NM_015046.7(SETX):c.7139G>A (p.Arg2380Gln) rs145397619
NM_015046.7(SETX):c.7164G>C (p.Thr2388=)
NM_015046.7(SETX):c.717A>G (p.Leu239=) rs147125311
NM_015046.7(SETX):c.7195A>G (p.Ile2399Val)
NM_015046.7(SETX):c.71A>G (p.Asn24Ser) rs981346599
NM_015046.7(SETX):c.7200-11_7200-10del rs531485265
NM_015046.7(SETX):c.7200-16dup rs531485265
NM_015046.7(SETX):c.7204C>G (p.Leu2402Val) rs1402767850
NM_015046.7(SETX):c.7287+9C>A rs769170686
NM_015046.7(SETX):c.7371T>C (p.His2457=) rs113071480
NM_015046.7(SETX):c.7413A>T (p.Arg2471Ser) rs1382990384
NM_015046.7(SETX):c.7432A>G (p.Thr2478Ala) rs142303658
NM_015046.7(SETX):c.7433C>G (p.Thr2478Ser) rs771027936
NM_015046.7(SETX):c.7482G>C (p.Lys2494Asn) rs1564464193
NM_015046.7(SETX):c.7490G>A (p.Ser2497Asn) rs61735488
NM_015046.7(SETX):c.7534C>T (p.Pro2512Ser) rs557347174
NM_015046.7(SETX):c.7590T>A (p.Pro2530=) rs1374204163
NM_015046.7(SETX):c.7597C>T (p.His2533Tyr)
NM_015046.7(SETX):c.75T>G (p.Thr25=)
NM_015046.7(SETX):c.7640T>C (p.Ile2547Thr) rs151117904
NM_015046.7(SETX):c.7660T>A (p.Phe2554Ile) rs368269464
NM_015046.7(SETX):c.7660T>C (p.Phe2554Leu) rs368269464
NM_015046.7(SETX):c.768G>T (p.Leu256=) rs759468738
NM_015046.7(SETX):c.7708C>T (p.Pro2570Ser) rs1240232139
NM_015046.7(SETX):c.7708_7710CCT[1] (p.Pro2571del) rs770590408
NM_015046.7(SETX):c.7724C>T (p.Pro2575Leu) rs34000644
NM_015046.7(SETX):c.7737C>T (p.Val2579=)
NM_015046.7(SETX):c.7770C>T (p.Pro2590=)
NM_015046.7(SETX):c.7814G>A (p.Arg2605Gln) rs543247171
NM_015046.7(SETX):c.7870G>T (p.Asp2624Tyr) rs141589525
NM_015046.7(SETX):c.7875G>A (p.Pro2625=)
NM_015046.7(SETX):c.7905C>T (p.Ala2635=) rs112201716
NM_015046.7(SETX):c.7912T>G (p.Phe2638Val)
NM_015046.7(SETX):c.7914C>T (p.Phe2638=) rs80296256
NM_015046.7(SETX):c.7926G>A (p.Glu2642=)
NM_015046.7(SETX):c.7941T>C (p.Gly2647=)
NM_015046.7(SETX):c.7982A>G (p.Lys2661Arg)
NM_015046.7(SETX):c.7991T>C (p.Leu2664Pro)
NM_015046.7(SETX):c.8031A>T (p.Leu2677Phe)
NM_015046.7(SETX):c.806C>T (p.Ser269Leu) rs757988188
NM_015046.7(SETX):c.808A>G (p.Ile270Val) rs1387745582
NM_015046.7(SETX):c.81C>T (p.Ser27=)
NM_015046.7(SETX):c.820A>G (p.Met274Val)
NM_015046.7(SETX):c.900T>C (p.Leu300=)
NM_015046.7(SETX):c.93A>G (p.Gln31=) rs201795631
NM_015046.7(SETX):c.968G>A (p.Ser323Asn) rs372193033
NM_015046.7(SETX):c.99C>T (p.Ala33=) rs762914576

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