ClinVar Miner

List of variants in gene SETX reported as uncertain significance for not provided

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Gene type:
ClinVar version:
Total variants: 88
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HGVS dbSNP
NM_015046.7(SETX):c.*7C>T rs754956426
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.1288G>A (p.Ala430Thr)
NM_015046.7(SETX):c.1468G>A (p.Val490Ile) rs763545230
NM_015046.7(SETX):c.1508G>A (p.Ser503Asn) rs1085307770
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.1880T>C (p.Met627Thr) rs199707503
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.2401A>G (p.Lys801Glu) rs149718424
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.272A>G (p.Asp91Gly) rs1327343862
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.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.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.3350C>T (p.Thr1117Ile) rs1564541749
NM_015046.7(SETX):c.3497A>G (p.Glu1166Gly) rs1554820858
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.3683C>T (p.Thr1228Ile) rs921853577
NM_015046.7(SETX):c.377A>G (p.His126Arg)
NM_015046.7(SETX):c.3809C>T (p.Pro1270Leu) rs144334281
NM_015046.7(SETX):c.3965C>A (p.Thr1322Asn) rs144900653
NM_015046.7(SETX):c.4180T>C (p.Ser1394Pro) rs780078856
NM_015046.7(SETX):c.4197A>G (p.Thr1399=) rs148078248
NM_015046.7(SETX):c.4273A>G (p.Lys1425Glu) rs534886444
NM_015046.7(SETX):c.4316T>C (p.Leu1439Ser) rs1589737441
NM_015046.7(SETX):c.4390C>T (p.Pro1464Ser) rs756080695
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.4507C>G (p.Pro1503Ala) rs745844516
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.4672A>G (p.Thr1558Ala) rs764920626
NM_015046.7(SETX):c.472T>G (p.Leu158Val) rs145438764
NM_015046.7(SETX):c.4898C>T (p.Ser1633Leu) rs1022473091
NM_015046.7(SETX):c.4964C>T (p.Ser1655Leu) rs1189378413
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.5203G>A (p.Val1735Ile) rs752646721
NM_015046.7(SETX):c.5278G>A (p.Ala1760Thr) rs764316153
NM_015046.7(SETX):c.5297C>A (p.Ser1766Tyr) rs1434366684
NM_015046.7(SETX):c.5322G>T (p.Gln1774His) rs771691157
NM_015046.7(SETX):c.5328A>C (p.Gln1776His) rs1589702061
NM_015046.7(SETX):c.546C>A (p.Asp182Glu) rs199748733
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.5842A>G (p.Met1948Val)
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) rs759806045
NM_015046.7(SETX):c.6085A>G (p.Lys2029Glu) rs746525639
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) rs1366270093
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.6910G>T (p.Asp2304Tyr) rs774458684
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.7092T>C (p.Asp2364=) rs144607919
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.7195A>G (p.Ile2399Val) rs150489999
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.7516G>A (p.Ala2506Thr) rs1160553456
NM_015046.7(SETX):c.7520C>G (p.Ser2507Cys) rs1373360956
NM_015046.7(SETX):c.7708_7710CCT[1] (p.Pro2571del) rs770590408
NM_015046.7(SETX):c.7814G>A (p.Arg2605Gln) rs543247171
NM_015046.7(SETX):c.7820A>G (p.Glu2607Gly) rs1554801389
NM_015046.7(SETX):c.7928A>G (p.Gln2643Arg)
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 rs760584527
NM_015046.7(SETX):c.968G>A (p.Ser323Asn) rs372193033

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