ClinVar Miner

List of variants in gene SETX reported as uncertain significance by Athena Diagnostics Inc

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 89
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HGVS dbSNP
NM_015046.7(SETX):c.*7C>T rs754956426
NM_015046.7(SETX):c.1097A>G (p.Lys366Arg) rs1554822056
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.12_14TTG[1] (p.Cys5del) rs774123592
NM_015046.7(SETX):c.1391C>T (p.Ser464Leu) rs200614765
NM_015046.7(SETX):c.1427_1432del (p.His476_Leu477del) rs777314512
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.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.1869A>C (p.Glu623Asp) rs139200312
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.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.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.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.3221A>G (p.Glu1074Gly) rs752140967
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.3350C>T (p.Thr1117Ile) rs1564541749
NM_015046.7(SETX):c.3456T>G (p.Phe1152Leu) rs1554820870
NM_015046.7(SETX):c.3587A>G (p.Asn1196Ser)
NM_015046.7(SETX):c.3601A>T (p.Ile1201Phe)
NM_015046.7(SETX):c.3602T>C (p.Ile1201Thr) rs750443804
NM_015046.7(SETX):c.3683C>T (p.Thr1228Ile)
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.4045C>G (p.Gln1349Glu) rs146407699
NM_015046.7(SETX):c.4120A>G (p.Lys1374Glu) rs756823072
NM_015046.7(SETX):c.4180T>C (p.Ser1394Pro)
NM_015046.7(SETX):c.4217C>G (p.Ala1406Gly) rs113856732
NM_015046.7(SETX):c.4316T>C (p.Leu1439Ser)
NM_015046.7(SETX):c.4417C>T (p.Arg1473Cys)
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.4672A>G (p.Thr1558Ala) rs764920626
NM_015046.7(SETX):c.4865C>T (p.Pro1622Leu) rs140781535
NM_015046.7(SETX):c.5051C>G (p.Ser1684Cys) rs140116005
NM_015046.7(SETX):c.5274+5G>A rs192596579
NM_015046.7(SETX):c.5278G>A (p.Ala1760Thr)
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.5328A>C (p.Gln1776His)
NM_015046.7(SETX):c.546C>A (p.Asp182Glu)
NM_015046.7(SETX):c.5501A>G (p.His1834Arg) rs770822383
NM_015046.7(SETX):c.5537G>A (p.Arg1846His) rs373571937
NM_015046.7(SETX):c.5591A>C (p.Gln1864Pro) rs375747001
NM_015046.7(SETX):c.5804A>G (p.Asn1935Ser) rs762791927
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.6029A>G (p.Asn2010Ser)
NM_015046.7(SETX):c.6112T>C (p.Cys2038Arg) rs1554809388
NM_015046.7(SETX):c.6172A>C (p.Lys2058Gln) rs747309962
NM_015046.7(SETX):c.628A>G (p.Ile210Val) rs1352654083
NM_015046.7(SETX):c.6536T>C (p.Ile2179Thr)
NM_015046.7(SETX):c.654G>C (p.Lys218Asn) rs117861188
NM_015046.7(SETX):c.6683C>T (p.Ser2228Leu)
NM_015046.7(SETX):c.668T>A (p.Leu223His)
NM_015046.7(SETX):c.6910G>T (p.Asp2304Tyr) rs774458684
NM_015046.7(SETX):c.6976A>G (p.Ile2326Val)
NM_015046.7(SETX):c.7073A>G (p.Asp2358Gly)
NM_015046.7(SETX):c.7139G>A (p.Arg2380Gln) rs145397619
NM_015046.7(SETX):c.7157T>C (p.Ile2386Thr)
NM_015046.7(SETX):c.7163C>T (p.Thr2388Met) rs765418950
NM_015046.7(SETX):c.7195A>G (p.Ile2399Val)
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.806C>T (p.Ser269Leu) rs757988188
NM_015046.7(SETX):c.839-6T>C
NM_015046.7(SETX):c.968G>A (p.Ser323Asn) rs372193033

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