ClinVar Miner

List of variants in gene DUOX2 reported as likely pathogenic for thyroid gland disorder

Included ClinVar conditions (106):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 88
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HGVS dbSNP gnomAD frequency
NM_001363711.2(DUOX2):c.1709A>T (p.Gln570Leu) rs547116063 0.00131
NM_001363711.2(DUOX2):c.1547G>A (p.Arg516His) rs143818717 0.00029
NM_001363711.2(DUOX2):c.1462G>A (p.Gly488Arg) rs191759494 0.00024
NM_001363711.2(DUOX2):c.2665G>T (p.Glu889Ter) rs376983373 0.00019
NM_001363711.2(DUOX2):c.3391G>A (p.Ala1131Thr) rs147540920 0.00017
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.4552G>A (p.Gly1518Ser) rs368512412 0.00008
NM_001363711.2(DUOX2):c.2524C>T (p.Arg842Ter) rs119472028 0.00006
NM_001363711.2(DUOX2):c.3693+1G>T rs200717240 0.00006
NM_001363711.2(DUOX2):c.505C>T (p.Arg169Trp) rs201590426 0.00006
NM_001363711.2(DUOX2):c.1295G>A (p.Arg432His) rs530736554 0.00004
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.3632G>A (p.Arg1211His) rs141763307 0.00004
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.959T>C (p.Leu320Pro) rs544236153 0.00003
NM_001363711.2(DUOX2):c.1310G>C (p.Gly437Ala) rs769796932 0.00001
NM_001363711.2(DUOX2):c.2335-1G>C rs758001307 0.00001
NM_001363711.2(DUOX2):c.2635G>A (p.Glu879Lys) rs774556391 0.00001
NM_001363711.2(DUOX2):c.3115C>T (p.Arg1039Trp) rs752176935 0.00001
NM_001363711.2(DUOX2):c.3328C>T (p.Arg1110Ter) rs531536885 0.00001
NM_001363711.2(DUOX2):c.3687T>A (p.Tyr1229Ter) rs753527559 0.00001
NM_001363711.2(DUOX2):c.1131+1G>A
NM_001363711.2(DUOX2):c.1237_1241del (p.Tyr413fs)
NM_001363711.2(DUOX2):c.1242G>A (p.Trp414Ter)
NM_001363711.2(DUOX2):c.127A>T (p.Asn43Tyr)
NM_001363711.2(DUOX2):c.1300_1320del (p.Arg434_Ser440del)
NM_001363711.2(DUOX2):c.1304A>G (p.Asp435Gly)
NM_001363711.2(DUOX2):c.1395_1396del (p.Gln466fs)
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)
NM_001363711.2(DUOX2):c.1506dup (p.Ile503fs)
NM_001363711.2(DUOX2):c.1519C>T (p.Gln507Ter)
NM_001363711.2(DUOX2):c.1648dup (p.Ile550fs)
NM_001363711.2(DUOX2):c.1708C>T (p.Gln570Ter)
NM_001363711.2(DUOX2):c.1831+2T>G
NM_001363711.2(DUOX2):c.1871del (p.Gly624fs)
NM_001363711.2(DUOX2):c.1873C>T (p.Arg625Ter) rs770083296
NM_001363711.2(DUOX2):c.1883del (p.Lys628fs) rs200592893
NM_001363711.2(DUOX2):c.1946C>A (p.Ala649Glu) rs748793969
NM_001363711.2(DUOX2):c.2104_2106del (p.Gly702del) rs779340990
NM_001363711.2(DUOX2):c.2201G>A (p.Trp734Ter)
NM_001363711.2(DUOX2):c.2327_2328del (p.Phe776fs)
NM_001363711.2(DUOX2):c.2413G>T (p.Glu805Ter)
NM_001363711.2(DUOX2):c.2560+2T>C
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.3005+1G>T
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.3085C>T (p.Gln1029Ter)
NM_001363711.2(DUOX2):c.316dup (p.Val106fs)
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.345_352del (p.Asp115fs) rs1566978577
NM_001363711.2(DUOX2):c.3516_3531del
NM_001363711.2(DUOX2):c.3646dup (p.Arg1216fs)
NM_001363711.2(DUOX2):c.3657G>A (p.Trp1219Ter)
NM_001363711.2(DUOX2):c.3667del (p.His1223fs) rs754179275
NM_001363711.2(DUOX2):c.3709_3711dup (p.Ser1237_Tyr1238insSer)
NM_001363711.2(DUOX2):c.3751del (p.Leu1251fs) rs1566971699
NM_001363711.2(DUOX2):c.3862C>T (p.Gln1288Ter)
NM_001363711.2(DUOX2):c.4000C>T (p.Arg1334Trp)
NM_001363711.2(DUOX2):c.4052del (p.Lys1351fs)
NM_001363711.2(DUOX2):c.4080G>T (p.Lys1360Asn) rs374891282
NM_001363711.2(DUOX2):c.4152del (p.Gly1386fs)
NM_001363711.2(DUOX2):c.4157del (p.Gly1386fs)
NM_001363711.2(DUOX2):c.4239+1G>A
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.457C>T (p.Gln153Ter)
NM_001363711.2(DUOX2):c.602dup (p.Gln202fs) rs567500345
NM_001363711.2(DUOX2):c.618del (p.Asp208fs) rs772809435
NM_001363711.2(DUOX2):c.70+5G>C
NM_001363711.2(DUOX2):c.73A>C (p.Ser25Arg)
NM_001363711.2(DUOX2):c.944-2A>T
NM_001363711.2(DUOX2):c.978_979delinsTT (p.Glu327Ter) rs1566977567
NM_001363711.2(DUOX2):c.989T>G (p.Val330Gly) rs778178479

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