ClinVar Miner

List of variants in gene SETX reported by Athena Diagnostics Inc

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Gene type:
ClinVar version:
Total variants: 162
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HGVS dbSNP
NM_015046.7(SETX):c.*7C>T rs754956426
NM_015046.7(SETX):c.1077T>C (p.Tyr359=) rs9411449
NM_015046.7(SETX):c.1097A>G (p.Lys366Arg) rs1554822056
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.1285A>G (p.Ile429Val) rs747053403
NM_015046.7(SETX):c.12_14TTG[1] (p.Cys5del) rs774123592
NM_015046.7(SETX):c.1343A>G (p.Asp448Gly) rs370363342
NM_015046.7(SETX):c.1391C>T (p.Ser464Leu) rs200614765
NM_015046.7(SETX):c.1392A>G (p.Ser464=) rs144164119
NM_015046.7(SETX):c.1427_1432del (p.His476_Leu477del) rs777314512
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.1690T>G (p.Leu564Val) rs761877146
NM_015046.7(SETX):c.1693T>C (p.Phe565Leu) rs143982186
NM_015046.7(SETX):c.1729A>T (p.Thr577Ser) rs1205251772
NM_015046.7(SETX):c.172C>T (p.His58Tyr) rs757760067
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.1869A>C (p.Glu623Asp) rs139200312
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.2113A>C (p.Ile705Leu) rs34781846
NM_015046.7(SETX):c.2176T>C (p.Cys726Arg) rs377734748
NM_015046.7(SETX):c.2329A>G (p.Lys777Glu) rs771595581
NM_015046.7(SETX):c.2390A>G (p.Lys797Arg) rs1273786747
NM_015046.7(SETX):c.2395C>T (p.His799Tyr) rs200459144
NM_015046.7(SETX):c.2479A>G (p.Lys827Glu) rs150532677
NM_015046.7(SETX):c.2490A>C (p.Gly830=) rs751429987
NM_015046.7(SETX):c.2672T>C (p.Val891Ala) rs148181729
NM_015046.7(SETX):c.2749A>G (p.Met917Val) 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.2842C>A (p.Pro948Thr) rs778882347
NM_015046.7(SETX):c.2862G>A (p.Thr954=) rs149610510
NM_015046.7(SETX):c.2975A>G (p.Lys992Arg) rs61742937
NM_015046.7(SETX):c.2981A>G (p.Asp994Gly) rs149546633
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.3023C>G (p.Thr1008Ser) rs372021275
NM_015046.7(SETX):c.3028C>T (p.Arg1010Cys) rs766799023
NM_015046.7(SETX):c.3057_3059TGA[5] (p.Asp1024del) rs572772837
NM_015046.7(SETX):c.3117A>G (p.Ile1039Met) rs886063555
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.3221A>G (p.Glu1074Gly) rs752140967
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.3336T>C (p.Ala1112=) rs150687078
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.3455T>G (p.Phe1152Cys) rs3739922
NM_015046.7(SETX):c.3456T>G (p.Phe1152Leu) rs1554820870
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) rs376381668
NM_015046.7(SETX):c.3601A>T (p.Ile1201Phe) rs1589740212
NM_015046.7(SETX):c.3602T>C (p.Ile1201Thr) rs750443804
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) rs921853577
NM_015046.7(SETX):c.3754G>A (p.Gly1252Arg) rs1183768
NM_015046.7(SETX):c.3809C>T (p.Pro1270Leu) rs144334281
NM_015046.7(SETX):c.3826C>G (p.Gln1276Glu) rs148604312
NM_015046.7(SETX):c.383G>A (p.Arg128His) rs749887957
NM_015046.7(SETX):c.3965C>A (p.Thr1322Asn) rs144900653
NM_015046.7(SETX):c.3968G>A (p.Arg1323Gln) rs369542231
NM_015046.7(SETX):c.4020_4022del (p.Lys1341del) rs769558791
NM_015046.7(SETX):c.4045C>G (p.Gln1349Glu) rs146407699
NM_015046.7(SETX):c.4120A>G (p.Lys1374Glu) rs756823072
NM_015046.7(SETX):c.4156A>G (p.Ile1386Val) rs543573
NM_015046.7(SETX):c.4180T>C (p.Ser1394Pro) rs780078856
NM_015046.7(SETX):c.4217C>G (p.Ala1406Gly) rs113856732
NM_015046.7(SETX):c.4316T>C (p.Leu1439Ser) rs1589737441
NM_015046.7(SETX):c.4417C>T (p.Arg1473Cys) rs781185115
NM_015046.7(SETX):c.4433C>A (p.Ala1478Glu) rs143661911
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.4612C>T (p.Arg1538Trp) rs147018359
NM_015046.7(SETX):c.4660T>G (p.Cys1554Gly) rs112089123
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.4865C>T (p.Pro1622Leu) rs140781535
NM_015046.7(SETX):c.4982C>G (p.Pro1661Arg) rs146873848
NM_015046.7(SETX):c.5051C>G (p.Ser1684Cys) rs140116005
NM_015046.7(SETX):c.5083C>T (p.Gln1695Ter) rs1589734405
NM_015046.7(SETX):c.5222dup (p.Asp1742fs) rs730882209
NM_015046.7(SETX):c.5267T>C (p.Phe1756Ser) rs762175796
NM_015046.7(SETX):c.5274+5G>A rs192596579
NM_015046.7(SETX):c.5278G>A (p.Ala1760Thr) rs764316153
NM_015046.7(SETX):c.5283A>G (p.Gln1761=) rs139063885
NM_015046.7(SETX):c.5294A>G (p.Asn1765Ser) rs373085593
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.5328A>C (p.Gln1776His) rs1589702061
NM_015046.7(SETX):c.5375-18CTT[2] rs201317659
NM_015046.7(SETX):c.546C>A (p.Asp182Glu) rs199748733
NM_015046.7(SETX):c.5473A>G (p.Thr1825Ala) rs151046729
NM_015046.7(SETX):c.5501A>G (p.His1834Arg) rs770822383
NM_015046.7(SETX):c.5535C>T (p.Arg1845=) rs200433173
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.5712A>G (p.Arg1904=) rs750372437
NM_015046.7(SETX):c.5804A>G (p.Asn1935Ser) rs762791927
NM_015046.7(SETX):c.5811T>C (p.Asp1937=) rs2296869
NM_015046.7(SETX):c.5949+5G>A rs374656811
NM_015046.7(SETX):c.5956A>T (p.Arg1986Trp) rs868436982
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.6029A>G (p.Asn2010Ser) rs759806045
NM_015046.7(SETX):c.6108A>G (p.Gly2036=) rs35815657
NM_015046.7(SETX):c.6112T>C (p.Cys2038Arg) rs1554809388
NM_015046.7(SETX):c.6122T>C (p.Ile2041Thr) rs140676924
NM_015046.7(SETX):c.6172A>C (p.Lys2058Gln) rs747309962
NM_015046.7(SETX):c.6289C>T (p.Gln2097Ter) rs901109960
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.6507G>A (p.Gly2169=) rs34073320
NM_015046.7(SETX):c.6536T>C (p.Ile2179Thr) rs1366270093
NM_015046.7(SETX):c.654G>C (p.Lys218Asn) rs117861188
NM_015046.7(SETX):c.6654+1G>A rs1554806979
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.6727_6728CA[1] (p.His2243fs) rs752122764
NM_015046.7(SETX):c.6829T>C (p.Leu2277=) rs189444354
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) rs751216566
NM_015046.7(SETX):c.7073A>G (p.Asp2358Gly) rs770469636
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) rs201887051
NM_015046.7(SETX):c.7163C>T (p.Thr2388Met) rs765418950
NM_015046.7(SETX):c.717A>G (p.Leu239=) rs147125311
NM_015046.7(SETX):c.7195A>G (p.Ile2399Val) rs150489999
NM_015046.7(SETX):c.7200-11_7200-10del rs531485265
NM_015046.7(SETX):c.7200-16dup rs531485265
NM_015046.7(SETX):c.7288-2A>G rs1554801819
NM_015046.7(SETX):c.7371T>C (p.His2457=) rs113071480
NM_015046.7(SETX):c.7432A>G (p.Thr2478Ala) rs142303658
NM_015046.7(SETX):c.7490G>A (p.Ser2497Asn) rs61735488
NM_015046.7(SETX):c.7516G>A (p.Ala2506Thr) rs1160553456
NM_015046.7(SETX):c.7708_7710CCT[1] (p.Pro2571del) rs770590408
NM_015046.7(SETX):c.7738G>A (p.Val2580Ile) rs370366576
NM_015046.7(SETX):c.7749C>T (p.Asp2583=) rs754701648
NM_015046.7(SETX):c.7759A>G (p.Ile2587Val) rs1056899
NM_015046.7(SETX):c.7818C>T (p.Gly2606=) rs764270386
NM_015046.7(SETX):c.7834A>G (p.Ser2612Gly) rs3739927
NM_015046.7(SETX):c.7875G>A (p.Pro2625=) rs536241867
NM_015046.7(SETX):c.7914C>T (p.Phe2638=) rs80296256
NM_015046.7(SETX):c.7991T>C (p.Leu2664Pro) rs143798689
NM_015046.7(SETX):c.806C>T (p.Ser269Leu) rs757988188
NM_015046.7(SETX):c.839-6T>C rs760584527
NM_015046.7(SETX):c.968G>A (p.Ser323Asn) rs372193033

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