ClinVar Miner

List of variants in gene SETX studied for not provided

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Gene type:
ClinVar version:
Total variants: 197
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HGVS dbSNP
NM_015046.5(SETX):c.6848_6851delCAGA (p.Thr2283Lysfs) rs398124286
NM_015046.7(SETX):c.*7C>T rs754956426
NM_015046.7(SETX):c.1077T>C (p.Tyr359=) rs9411449
NM_015046.7(SETX):c.1166T>C (p.Leu389Ser) rs29001584
NM_015046.7(SETX):c.1273G>T (p.Gly425Cys)
NM_015046.7(SETX):c.1274G>C (p.Gly425Ala) rs1199659912
NM_015046.7(SETX):c.1285A>G (p.Ile429Val)
NM_015046.7(SETX):c.1288G>A (p.Ala430Thr)
NM_015046.7(SETX):c.1343A>G (p.Asp448Gly) rs370363342
NM_015046.7(SETX):c.1467C>T (p.Val489=) rs142093830
NM_015046.7(SETX):c.1468G>A (p.Val490Ile) rs763545230
NM_015046.7(SETX):c.1504C>T (p.Arg502Trp) rs534723946
NM_015046.7(SETX):c.1508G>A (p.Ser503Asn) rs1085307770
NM_015046.7(SETX):c.1693T>C (p.Phe565Leu) rs143982186
NM_015046.7(SETX):c.1754A>G (p.Gln585Arg) rs188247474
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.1979C>G (p.Ala660Gly) rs882709
NM_015046.7(SETX):c.2005A>T (p.Asn669Tyr) rs143727702
NM_015046.7(SETX):c.2176T>C (p.Cys726Arg) rs377734748
NM_015046.7(SETX):c.2216G>A (p.Gly739Glu) rs36024203
NM_015046.7(SETX):c.23C>T (p.Thr8Met) rs1057520367
NM_015046.7(SETX):c.2401A>G (p.Lys801Glu) rs149718424
NM_015046.7(SETX):c.243del (p.Ile81fs) rs1455336434
NM_015046.7(SETX):c.2479A>G (p.Lys827Glu) rs150532677
NM_015046.7(SETX):c.2490A>C (p.Gly830=)
NM_015046.7(SETX):c.2502A>G (p.Gly834=) rs762818441
NM_015046.7(SETX):c.2672T>C (p.Val891Ala) rs148181729
NM_015046.7(SETX):c.272A>G (p.Asp91Gly)
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.2955G>A (p.Ser985=)
NM_015046.7(SETX):c.2981A>G (p.Asp994Gly)
NM_015046.7(SETX):c.3010A>G (p.Asn1004Asp) rs77984885
NM_015046.7(SETX):c.3018A>C (p.Gly1006=)
NM_015046.7(SETX):c.3029G>A (p.Arg1010His) rs370781594
NM_015046.7(SETX):c.3056C>A (p.Ser1019Tyr) rs749204574
NM_015046.7(SETX):c.3057_3059TGA[5] (p.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.3147C>T (p.His1049=) rs3739921
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.3310C>G (p.Gln1104Glu) rs113831637
NM_015046.7(SETX):c.3311A>C (p.Gln1104Pro) rs777787438
NM_015046.7(SETX):c.3345C>G (p.Ala1115=) rs142020270
NM_015046.7(SETX):c.3350C>T (p.Thr1117Ile) rs1564541749
NM_015046.7(SETX):c.3450A>G (p.Glu1150=)
NM_015046.7(SETX):c.3497A>G (p.Glu1166Gly) rs1554820858
NM_015046.7(SETX):c.3525G>A (p.Arg1175=)
NM_015046.7(SETX):c.3568A>G (p.Lys1190Glu) rs35473230
NM_015046.7(SETX):c.3576T>G (p.Asp1192Glu) rs1185193
NM_015046.7(SETX):c.3587A>G (p.Asn1196Ser)
NM_015046.7(SETX):c.3601A>T (p.Ile1201Phe)
NM_015046.7(SETX):c.3603T>C (p.Ile1201=)
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.3683C>T (p.Thr1228Ile)
NM_015046.7(SETX):c.3754G>A (p.Gly1252Arg) rs1183768
NM_015046.7(SETX):c.377A>G (p.His126Arg)
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.3826C>G (p.Gln1276Glu) rs148604312
NM_015046.7(SETX):c.3965C>A (p.Thr1322Asn) rs144900653
NM_015046.7(SETX):c.3966C>A (p.Thr1322=)
NM_015046.7(SETX):c.3968G>A (p.Arg1323Gln) rs369542231
NM_015046.7(SETX):c.399T>C (p.Cys133=)
NM_015046.7(SETX):c.4020_4022del (p.Lys1341del)
NM_015046.7(SETX):c.4156A>G (p.Ile1386Val) rs543573
NM_015046.7(SETX):c.4180T>C (p.Ser1394Pro)
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.4273A>G (p.Lys1425Glu) rs534886444
NM_015046.7(SETX):c.4316T>C (p.Leu1439Ser)
NM_015046.7(SETX):c.4390C>T (p.Pro1464Ser)
NM_015046.7(SETX):c.4417C>T (p.Arg1473Cys)
NM_015046.7(SETX):c.4433C>A (p.Ala1478Glu) rs143661911
NM_015046.7(SETX):c.4507C>G (p.Pro1503Ala)
NM_015046.7(SETX):c.4525T>C (p.Cys1509Arg) rs543647990
NM_015046.7(SETX):c.4600G>C (p.Asp1534His) rs746807833
NM_015046.7(SETX):c.4631T>C (p.Leu1544Ser) rs754357821
NM_015046.7(SETX):c.4645T>G (p.Cys1549Gly)
NM_015046.7(SETX):c.4660T>G (p.Cys1554Gly) rs112089123
NM_015046.7(SETX):c.4662T>C (p.Cys1554=)
NM_015046.7(SETX):c.4672A>G (p.Thr1558Ala) rs764920626
NM_015046.7(SETX):c.4677A>G (p.Lys1559=) rs200123129
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.4816C>T (p.Arg1606Ter) rs759213174
NM_015046.7(SETX):c.4872A>G (p.Leu1624=)
NM_015046.7(SETX):c.4898C>T (p.Ser1633Leu) rs1022473091
NM_015046.7(SETX):c.4936C>T (p.Gln1646Ter) rs886041522
NM_015046.7(SETX):c.4964C>T (p.Ser1655Leu)
NM_015046.7(SETX):c.4982C>G (p.Pro1661Arg) rs146873848
NM_015046.7(SETX):c.499-9T>C
NM_015046.7(SETX):c.4A>G (p.Ser2Gly) rs149808180
NM_015046.7(SETX):c.5051C>G (p.Ser1684Cys) rs140116005
NM_015046.7(SETX):c.5083C>T (p.Gln1695Ter)
NM_015046.7(SETX):c.5130T>C (p.Tyr1710=)
NM_015046.7(SETX):c.5203G>A (p.Val1735Ile) rs752646721
NM_015046.7(SETX):c.5222dup (p.Asp1742fs) rs730882209
NM_015046.7(SETX):c.5243dup (p.Leu1750fs)
NM_015046.7(SETX):c.5267T>C (p.Phe1756Ser) rs762175796
NM_015046.7(SETX):c.5274+8T>C
NM_015046.7(SETX):c.5278G>A (p.Ala1760Thr)
NM_015046.7(SETX):c.5283A>G (p.Gln1761=) rs139063885
NM_015046.7(SETX):c.5297C>A (p.Ser1766Tyr) rs1434366684
NM_015046.7(SETX):c.5306_5307GA[1] (p.Glu1770fs) rs750959420
NM_015046.7(SETX):c.5322G>T (p.Gln1774His) rs771691157
NM_015046.7(SETX):c.5328A>C (p.Gln1776His)
NM_015046.7(SETX):c.5375-18CTT[2] rs201317659
NM_015046.7(SETX):c.546C>A (p.Asp182Glu)
NM_015046.7(SETX):c.5473A>G (p.Thr1825Ala)
NM_015046.7(SETX):c.5535C>T (p.Arg1845=)
NM_015046.7(SETX):c.5537G>A (p.Arg1846His) rs373571937
NM_015046.7(SETX):c.5547_5548+2del rs1554813128
NM_015046.7(SETX):c.5563A>G (p.Thr1855Ala) rs2296871
NM_015046.7(SETX):c.5591A>C (p.Gln1864Pro) rs375747001
NM_015046.7(SETX):c.5591_5592del (p.Gln1864fs) rs776470487
NM_015046.7(SETX):c.5616C>T (p.Asn1872=)
NM_015046.7(SETX):c.5712A>G (p.Arg1904=)
NM_015046.7(SETX):c.5782-6A>G
NM_015046.7(SETX):c.5811T>C (p.Asp1937=) rs2296869
NM_015046.7(SETX):c.5814A>G (p.Gln1938=)
NM_015046.7(SETX):c.5825T>C (p.Ile1942Thr)
NM_015046.7(SETX):c.5901A>G (p.Thr1967=) rs780717865
NM_015046.7(SETX):c.5949+5G>A rs374656811
NM_015046.7(SETX):c.5956A>T (p.Arg1986Trp) rs868436982
NM_015046.7(SETX):c.6013G>A (p.Val2005Met) rs148568105
NM_015046.7(SETX):c.6029A>G (p.Asn2010Ser)
NM_015046.7(SETX):c.6085A>G (p.Lys2029Glu) rs746525639
NM_015046.7(SETX):c.6108A>G (p.Gly2036=) rs35815657
NM_015046.7(SETX):c.6122T>C (p.Ile2041Thr)
NM_015046.7(SETX):c.6172A>C (p.Lys2058Gln) rs747309962
NM_015046.7(SETX):c.6289C>T (p.Gln2097Ter)
NM_015046.7(SETX):c.628A>G (p.Ile210Val) rs1352654083
NM_015046.7(SETX):c.6292C>T (p.Arg2098Ter) rs770684782
NM_015046.7(SETX):c.6351C>T (p.Ser2117=)
NM_015046.7(SETX):c.6406C>T (p.Arg2136Cys) rs1554807765
NM_015046.7(SETX):c.6474T>C (p.Ser2158=)
NM_015046.7(SETX):c.6536T>C (p.Ile2179Thr)
NM_015046.7(SETX):c.6654+1G>A rs1554806979
NM_015046.7(SETX):c.6683C>T (p.Ser2228Leu)
NM_015046.7(SETX):c.668T>A (p.Leu223His)
NM_015046.7(SETX):c.6727_6728CA[1] (p.His2243fs)
NM_015046.7(SETX):c.6762C>T (p.Leu2254=)
NM_015046.7(SETX):c.6829T>C (p.Leu2277=)
NM_015046.7(SETX):c.6897dup (p.Phe2300fs)
NM_015046.7(SETX):c.6910G>T (p.Asp2304Tyr) rs774458684
NM_015046.7(SETX):c.6935+8T>C rs17148873
NM_015046.7(SETX):c.6976A>G (p.Ile2326Val)
NM_015046.7(SETX):c.7042dup (p.Tyr2348fs) rs1057519213
NM_015046.7(SETX):c.7073A>G (p.Asp2358Gly)
NM_015046.7(SETX):c.7092T>C (p.Asp2364=)
NM_015046.7(SETX):c.7100+9T>C rs200088320
NM_015046.7(SETX):c.7119_7120TG[1] (p.Val2374fs) rs765371601
NM_015046.7(SETX):c.7139G>A (p.Arg2380Gln) rs145397619
NM_015046.7(SETX):c.7157T>C (p.Ile2386Thr)
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.7200-11_7200-10del rs531485265
NM_015046.7(SETX):c.7200-16dup rs531485265
NM_015046.7(SETX):c.7287+9C>A rs769170686
NM_015046.7(SETX):c.7288-2A>G rs1554801819
NM_015046.7(SETX):c.7371T>C (p.His2457=) rs113071480
NM_015046.7(SETX):c.7417C>G (p.Leu2473Val) rs760196991
NM_015046.7(SETX):c.7427C>T (p.Pro2476Leu) rs767515528
NM_015046.7(SETX):c.7432A>C (p.Thr2478Pro) rs142303658
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.75T>G (p.Thr25=)
NM_015046.7(SETX):c.7640T>C (p.Ile2547Thr) rs151117904
NM_015046.7(SETX):c.7708_7710CCT[1] (p.Pro2571del) rs770590408
NM_015046.7(SETX):c.7737C>T (p.Val2579=)
NM_015046.7(SETX):c.7759A>G (p.Ile2587Val) rs1056899
NM_015046.7(SETX):c.7770C>T (p.Pro2590=)
NM_015046.7(SETX):c.7814G>A (p.Arg2605Gln) rs543247171
NM_015046.7(SETX):c.7818C>T (p.Gly2606=)
NM_015046.7(SETX):c.7820A>G (p.Glu2607Gly) rs1554801389
NM_015046.7(SETX):c.7834A>G (p.Ser2612Gly) rs3739927
NM_015046.7(SETX):c.7875G>A (p.Pro2625=)
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.7991T>C (p.Leu2664Pro)
NM_015046.7(SETX):c.7995G>T (p.Glu2665Asp) rs1085307585
NM_015046.7(SETX):c.832G>A (p.Ala278Thr) rs369035418
NM_015046.7(SETX):c.839-6T>C
NM_015046.7(SETX):c.8C>T (p.Thr3Ile) rs28941475
NM_015046.7(SETX):c.968G>A (p.Ser323Asn) rs372193033
NM_015046.7(SETX):c.994C>T (p.Arg332Trp) rs29001665

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