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

Minimum submission review status:		Collection method:
Minimum conflict level:
Gene type:		Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 88

Download table as spreadsheet

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

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.