ClinVar Miner

List of variants in gene SETX studied for DNA repair disease

Included ClinVar conditions (97):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 187
Download table as spreadsheet
HGVS dbSNP
NM_015046.5(SETX):c.6848_6851delCAGA (p.Thr2283Lysfs) rs398124286
NM_015046.5(SETX):c.[1807A>G;1957C>A]
NM_015046.5(SETX):c.[3880C>T;822G>H]
NM_015046.5(SETX):c.[6106G>A];[7149_7151delTTGinsAT]
NM_015046.7(SETX):c.1027G>T (p.Glu343Ter) rs121434381
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)
NM_015046.7(SETX):c.1343A>G (p.Asp448Gly)
NM_015046.7(SETX):c.1374T>G (p.Phe458Leu)
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)
NM_015046.7(SETX):c.14G>C (p.Cys5Ser)
NM_015046.7(SETX):c.1504C>T (p.Arg502Trp) rs534723946
NM_015046.7(SETX):c.1561C>T (p.Leu521=) rs148638979
NM_015046.7(SETX):c.1576A>G (p.Met526Val)
NM_015046.7(SETX):c.1626C>T (p.Leu542=) rs746541015
NM_015046.7(SETX):c.1690T>G (p.Leu564Val) rs761877146
NM_015046.7(SETX):c.1714C>G (p.Leu572Val)
NM_015046.7(SETX):c.1750C>G (p.Leu584Val)
NM_015046.7(SETX):c.1807A>G (p.Asn603Asp) rs116205032
NM_015046.7(SETX):c.1869A>C (p.Glu623Asp) rs139200312
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.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.2395C>T (p.His799Tyr) rs200459144
NM_015046.7(SETX):c.2399G>T (p.Arg800Met)
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.2602C>T (p.Gln868Ter) rs121434377
NM_015046.7(SETX):c.263A>G (p.Tyr88Cys)
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.2755G>C (p.Val919Leu) rs561190371
NM_015046.7(SETX):c.2854A>G (p.Thr952Ala) rs1375463032
NM_015046.7(SETX):c.2958G>A (p.Gln986=) rs969060686
NM_015046.7(SETX):c.2967_2971del (p.Arg989fs) rs587776536
NM_015046.7(SETX):c.2975A>G (p.Lys992Arg) rs61742937
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.3040A>G (p.Ile1014Val)
NM_015046.7(SETX):c.3053A>G (p.Asp1018Gly)
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.3162_3167del (p.Asn1054_Ser1055del) rs576141809
NM_015046.7(SETX):c.3182C>T (p.Pro1061Leu) rs12352982
NM_015046.7(SETX):c.3229G>A (p.Asp1077Asn) rs145097270
NM_015046.7(SETX):c.3332T>G (p.Leu1111Trp) rs1564541841
NM_015046.7(SETX):c.3341T>C (p.Ile1114Thr)
NM_015046.7(SETX):c.33T>C (p.Gly11=) rs1243832257
NM_015046.7(SETX):c.340_342CTT[1] (p.Leu115del) rs587776537
NM_015046.7(SETX):c.3422A>T (p.His1141Leu) rs1554820904
NM_015046.7(SETX):c.3433C>T (p.Arg1145Trp)
NM_015046.7(SETX):c.3455T>G (p.Phe1152Cys) rs3739922
NM_015046.7(SETX):c.3462A>C (p.Glu1154Asp) rs1297541939
NM_015046.7(SETX):c.3469G>T (p.Val1157Leu)
NM_015046.7(SETX):c.3568A>G (p.Lys1190Glu) rs35473230
NM_015046.7(SETX):c.3650C>T (p.Thr1217Met)
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)
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)
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.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.4087C>T (p.Arg1363Ter) rs121434376
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.4262C>G (p.Pro1421Arg)
NM_015046.7(SETX):c.431A>G (p.Asn144Ser) rs767453182
NM_015046.7(SETX):c.4369A>G (p.Ile1457Val)
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.4663C>G (p.Leu1555Val)
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)
NM_015046.7(SETX):c.4865C>T (p.Pro1622Leu) rs140781535
NM_015046.7(SETX):c.4866G>A (p.Pro1622=) rs779472573
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.5024del (p.Pro1675fs) rs1554820021
NM_015046.7(SETX):c.5104G>A (p.Val1702Ile)
NM_015046.7(SETX):c.5264del (p.Thr1755fs) rs776632212
NM_015046.7(SETX):c.5283A>G (p.Gln1761=) rs139063885
NM_015046.7(SETX):c.5306_5307GA[1] (p.Glu1770fs) rs750959420
NM_015046.7(SETX):c.5375-18CTT[2] rs201317659
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.5767A>G (p.Thr1923Ala) rs372993859
NM_015046.7(SETX):c.5781+10G>A rs537414669
NM_015046.7(SETX):c.5821_5830del (p.Ala1941fs) rs797045067
NM_015046.7(SETX):c.5901A>G (p.Thr1967=) rs780717865
NM_015046.7(SETX):c.5927T>G (p.Leu1976Arg) rs121434379
NM_015046.7(SETX):c.5929C>T (p.Leu1977Phe) rs121434380
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.6038T>G (p.Val2013Gly) rs797045068
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.6213_6214AG[1] (p.Glu2072fs) rs1564492117
NM_015046.7(SETX):c.6322C>T (p.Gln2108Ter) rs879253866
NM_015046.7(SETX):c.6338A>T (p.Asp2113Val)
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.6638C>T (p.Pro2213Leu) rs28940290
NM_015046.7(SETX):c.667C>G (p.Leu223Val) rs774068411
NM_015046.7(SETX):c.68C>T (p.Ser23Phe) rs1323126988
NM_015046.7(SETX):c.6922A>G (p.Arg2308Gly)
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.717A>G (p.Leu239=) rs147125311
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.7309C>G (p.Leu2437Val) rs1564464665
NM_015046.7(SETX):c.7330C>T (p.Arg2444Cys) rs372535542
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)
NM_015046.7(SETX):c.7590T>A (p.Pro2530=) rs1374204163
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)
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.7814G>A (p.Arg2605Gln) rs543247171
NM_015046.7(SETX):c.7870G>T (p.Asp2624Tyr) rs141589525
NM_015046.7(SETX):c.7905C>T (p.Ala2635=) rs112201716
NM_015046.7(SETX):c.8031A>T (p.Leu2677Phe)
NM_015046.7(SETX):c.808A>G (p.Ile270Val) rs1387745582
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.994C>T (p.Arg332Trp) rs29001665
NM_015046.7(SETX):c.99C>T (p.Ala33=) rs762914576

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.