ClinVar Miner

List of variants in gene DUOX2 reported as likely pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 148
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001363711.2(DUOX2):c.3155G>A (p.Cys1052Tyr) rs76343591 0.00109
NM_001363711.2(DUOX2):c.1709A>T (p.Gln570Leu) rs547116063 0.00042
NM_001363711.2(DUOX2):c.1547G>A (p.Arg516His) rs143818717 0.00026
NM_001363711.2(DUOX2):c.1462G>A (p.Gly488Arg) rs191759494 0.00025
NM_001363711.2(DUOX2):c.1516G>A (p.Asp506Asn) rs200134167 0.00023
NM_001363711.2(DUOX2):c.2665G>T (p.Glu889Ter) rs376983373 0.00019
NM_001363711.2(DUOX2):c.3391G>A (p.Ala1131Thr) rs147540920 0.00016
NM_001363711.2(DUOX2):c.1126C>T (p.Arg376Trp) rs119472029 0.00014
NM_001363711.2(DUOX2):c.3006-2A>G rs371960046 0.00012
NM_001363711.2(DUOX2):c.2922-14_2925del rs760031457 0.00011
NM_001363711.2(DUOX2):c.2597T>G (p.Met866Arg) rs200948626 0.00009
NM_001363711.2(DUOX2):c.1295G>A (p.Arg432His) rs530736554 0.00008
NM_001363711.2(DUOX2):c.3693+1G>T rs200717240 0.00008
NM_001363711.2(DUOX2):c.4000C>T (p.Arg1334Trp) rs200541410 0.00008
NM_001363711.2(DUOX2):c.4552G>A (p.Gly1518Ser) rs368512412 0.00008
NM_001363711.2(DUOX2):c.2524C>T (p.Arg842Ter) rs119472028 0.00006
NM_001363711.2(DUOX2):c.505C>T (p.Arg169Trp) rs201590426 0.00006
NM_001363711.2(DUOX2):c.2653C>T (p.Arg885Ter) rs199589510 0.00004
NM_001363711.2(DUOX2):c.3250C>T (p.Arg1084Ter) rs368975704 0.00004
NM_001363711.2(DUOX2):c.3328C>T (p.Arg1110Ter) rs531536885 0.00004
NM_001363711.2(DUOX2):c.3632G>A (p.Arg1211His) rs141763307 0.00004
NM_001363711.2(DUOX2):c.4152del (p.Gly1386fs) rs773312598 0.00004
NM_001363711.2(DUOX2):c.1694-2A>T rs201188869 0.00003
NM_001363711.2(DUOX2):c.1831+2T>G rs1328924162 0.00003
NM_001363711.2(DUOX2):c.2635G>A (p.Glu879Lys) rs774556391 0.00003
NM_001363711.2(DUOX2):c.3847+2T>C rs199752932 0.00003
NM_001363711.2(DUOX2):c.4081-1G>A rs549559724 0.00003
NM_001363711.2(DUOX2):c.513+1G>C rs752635135 0.00003
NM_001363711.2(DUOX2):c.959T>C (p.Leu320Pro) rs544236153 0.00003
NM_001363711.2(DUOX2):c.1708C>T (p.Gln570Ter) rs1332668133 0.00002
NM_001363711.2(DUOX2):c.3415+1G>A rs941026356 0.00002
NM_001363711.2(DUOX2):c.506G>A (p.Arg169Gln) rs753600344 0.00002
NM_001363711.2(DUOX2):c.1040+1G>C rs977021576 0.00001
NM_001363711.2(DUOX2):c.127A>T (p.Asn43Tyr) rs747270555 0.00001
NM_001363711.2(DUOX2):c.1310G>C (p.Gly437Ala) rs769796932 0.00001
NM_001363711.2(DUOX2):c.1478del (p.His493fs) rs751410726 0.00001
NM_001363711.2(DUOX2):c.1693+1G>C rs1268230987 0.00001
NM_001363711.2(DUOX2):c.2334+1G>A rs1311908399 0.00001
NM_001363711.2(DUOX2):c.2335-1G>C rs758001307 0.00001
NM_001363711.2(DUOX2):c.2560+1G>A rs1219664039 0.00001
NM_001363711.2(DUOX2):c.2713G>T (p.Glu905Ter) rs776336201 0.00001
NM_001363711.2(DUOX2):c.3076C>T (p.Gln1026Ter) rs935436918 0.00001
NM_001363711.2(DUOX2):c.3115C>T (p.Arg1039Trp) rs752176935 0.00001
NM_001363711.2(DUOX2):c.3415+1G>C rs941026356 0.00001
NM_001363711.2(DUOX2):c.3416-2A>C rs758000012 0.00001
NM_001363711.2(DUOX2):c.3516-1G>C rs764517475 0.00001
NM_001363711.2(DUOX2):c.3687T>A (p.Tyr1229Ter) rs753527559 0.00001
NM_001363711.2(DUOX2):c.4171C>G (p.Pro1391Ala) rs771198569 0.00001
NM_001363711.2(DUOX2):c.4561G>T (p.Gly1521Ter) rs765781255 0.00001
NM_001363711.2(DUOX2):c.1040+1G>T rs977021576
NM_001363711.2(DUOX2):c.1131+1G>A
NM_001363711.2(DUOX2):c.1234+1G>T rs1894320928
NM_001363711.2(DUOX2):c.1237_1241del (p.Tyr413fs)
NM_001363711.2(DUOX2):c.1242G>A (p.Trp414Ter)
NM_001363711.2(DUOX2):c.1300_1320del (p.Arg434_Ser440del) rs1233050377
NM_001363711.2(DUOX2):c.1304A>G (p.Asp435Gly)
NM_001363711.2(DUOX2):c.1395_1396del (p.Gln466fs) rs2504775143
NM_001363711.2(DUOX2):c.1398+2T>C rs781491435
NM_001363711.2(DUOX2):c.1461_1462delinsA (p.Leu489fs) rs2141153740
NM_001363711.2(DUOX2):c.1464del (p.Leu489fs)
NM_001363711.2(DUOX2):c.1479dup (p.Gly494fs) rs1190275359
NM_001363711.2(DUOX2):c.1506dup (p.Ile503fs)
NM_001363711.2(DUOX2):c.1519C>T (p.Gln507Ter)
NM_001363711.2(DUOX2):c.1574+2T>C rs1255838105
NM_001363711.2(DUOX2):c.160+2T>C
NM_001363711.2(DUOX2):c.161-1G>T rs2504789080
NM_001363711.2(DUOX2):c.161-2A>T rs1894475413
NM_001363711.2(DUOX2):c.1648dup (p.Ile550fs)
NM_001363711.2(DUOX2):c.1871del (p.Gly624fs) rs769258094
NM_001363711.2(DUOX2):c.1873C>T (p.Arg625Ter) rs770083296
NM_001363711.2(DUOX2):c.1883del (p.Lys628fs) rs200592893
NM_001363711.2(DUOX2):c.1891C>T (p.Gln631Ter)
NM_001363711.2(DUOX2):c.1946C>A (p.Ala649Glu) rs748793969
NM_001363711.2(DUOX2):c.2048G>T (p.Arg683Leu) rs8028305
NM_001363711.2(DUOX2):c.2104_2106del (p.Gly702del) rs779340990
NM_001363711.2(DUOX2):c.2148+1G>C rs1566975448
NM_001363711.2(DUOX2):c.2148+1G>T rs1566975448
NM_001363711.2(DUOX2):c.2201G>A (p.Trp734Ter)
NM_001363711.2(DUOX2):c.2327_2328del (p.Phe776fs)
NM_001363711.2(DUOX2):c.2334+2T>G rs2504764413
NM_001363711.2(DUOX2):c.2413G>T (p.Glu805Ter) rs756995727
NM_001363711.2(DUOX2):c.2560+2T>C rs764013641
NM_001363711.2(DUOX2):c.2561-2A>G rs2504760939
NM_001363711.2(DUOX2):c.2654+1G>A rs139890337
NM_001363711.2(DUOX2):c.2654G>T (p.Arg885Leu) rs181461079
NM_001363711.2(DUOX2):c.2852-2A>G
NM_001363711.2(DUOX2):c.2895_2898del (p.Phe966fs) rs530719719
NM_001363711.2(DUOX2):c.2921+101_3001del rs2504753203
NM_001363711.2(DUOX2):c.3005+1G>T rs1168089009
NM_001363711.2(DUOX2):c.3006-1G>A rs2504751716
NM_001363711.2(DUOX2):c.3006-1G>C
NM_001363711.2(DUOX2):c.3010_3016del (p.Ala1004fs)
NM_001363711.2(DUOX2):c.3033C>A (p.Tyr1011Ter) rs765438725
NM_001363711.2(DUOX2):c.3061C>T (p.Arg1021Ter) rs147452041
NM_001363711.2(DUOX2):c.3085C>T (p.Gln1029Ter) rs1456557225
NM_001363711.2(DUOX2):c.316dup (p.Val106fs) rs765380383
NM_001363711.2(DUOX2):c.3184+1G>A
NM_001363711.2(DUOX2):c.3264_3267del (p.Val1090fs) rs2141144285
NM_001363711.2(DUOX2):c.3340del (p.Leu1114fs) rs748194265
NM_001363711.2(DUOX2):c.3391G>T (p.Ala1131Ser)
NM_001363711.2(DUOX2):c.3416-1G>A rs2141143881
NM_001363711.2(DUOX2):c.3423_3424del (p.His1141fs) rs1009807148
NM_001363711.2(DUOX2):c.345_352del (p.Asp115fs) rs1566978577
NM_001363711.2(DUOX2):c.3475CTG[1] (p.Leu1160del) rs758318135
NM_001363711.2(DUOX2):c.3515+1G>A rs1179439325
NM_001363711.2(DUOX2):c.3516-1G>T rs764517475
NM_001363711.2(DUOX2):c.3516_3531del
NM_001363711.2(DUOX2):c.3565+1G>T rs2504745479
NM_001363711.2(DUOX2):c.3646dup (p.Arg1216fs)
NM_001363711.2(DUOX2):c.364C>A (p.Pro122Thr)
NM_001363711.2(DUOX2):c.3656G>A (p.Trp1219Ter) rs377189285
NM_001363711.2(DUOX2):c.3657G>A (p.Trp1219Ter)
NM_001363711.2(DUOX2):c.3667del (p.His1223fs) rs754179275
NM_001363711.2(DUOX2):c.3692_3693+13del rs1893939580
NM_001363711.2(DUOX2):c.3709_3711dup (p.Ser1237_Tyr1238insSer) rs766871326
NM_001363711.2(DUOX2):c.3751del (p.Leu1251fs) rs1566971699
NM_001363711.2(DUOX2):c.380_381del (p.Glu127fs) rs1595529163
NM_001363711.2(DUOX2):c.3848-2A>G rs2141140456
NM_001363711.2(DUOX2):c.3862C>T (p.Gln1288Ter)
NM_001363711.2(DUOX2):c.4052del (p.Lys1351fs)
NM_001363711.2(DUOX2):c.4080G>T (p.Lys1360Asn) rs374891282
NM_001363711.2(DUOX2):c.4157del (p.Gly1386fs)
NM_001363711.2(DUOX2):c.4239+1G>A rs2504738840
NM_001363711.2(DUOX2):c.4239+1G>T
NM_001363711.2(DUOX2):c.4239+2T>G rs762701727
NM_001363711.2(DUOX2):c.4357C>T (p.Gln1453Ter) rs1188250699
NM_001363711.2(DUOX2):c.4521del (p.Gln1508fs) rs1893849623
NM_001363711.2(DUOX2):c.4524+1G>C
NM_001363711.2(DUOX2):c.4524+1dup rs578014563
NM_001363711.2(DUOX2):c.4537G>C (p.Gly1513Arg)
NM_001363711.2(DUOX2):c.4552G>C (p.Gly1518Arg)
NM_001363711.2(DUOX2):c.4553G>A (p.Gly1518Asp) rs2504735219
NM_001363711.2(DUOX2):c.457C>T (p.Gln153Ter) rs2504785818
NM_001363711.2(DUOX2):c.534G>T (p.Trp178Cys)
NM_001363711.2(DUOX2):c.602dup (p.Gln202fs) rs567500345
NM_001363711.2(DUOX2):c.605_621del (p.Gln202fs) rs769318570
NM_001363711.2(DUOX2):c.614C>A (p.Ser205Ter)
NM_001363711.2(DUOX2):c.618del (p.Asp208fs) rs772809435
NM_001363711.2(DUOX2):c.70+5G>C
NM_001363711.2(DUOX2):c.714C>A (p.Tyr238Ter) rs779861023
NM_001363711.2(DUOX2):c.73A>C (p.Ser25Arg)
NM_001363711.2(DUOX2):c.857G>A (p.Arg286His)
NM_001363711.2(DUOX2):c.925del (p.Thr309fs) rs1894362961
NM_001363711.2(DUOX2):c.943+1G>A
NM_001363711.2(DUOX2):c.944-1G>A rs1239852850
NM_001363711.2(DUOX2):c.944-2A>T rs1047718058
NM_001363711.2(DUOX2):c.978_979delinsTT (p.Glu327Ter) rs1566977567
NM_001363711.2(DUOX2):c.989T>G (p.Val330Gly) rs778178479

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.