ClinVar Miner

List of variants in gene DUOX2 reported as pathogenic by Invitae

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Gene type:
ClinVar version:
Total variants: 132
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HGVS dbSNP gnomAD frequency
NM_001363711.2(DUOX2):c.2665G>T (p.Glu889Ter) rs376983373 0.00019
NM_001363711.2(DUOX2):c.1588A>T (p.Lys530Ter) rs180671269 0.00017
NM_001363711.2(DUOX2):c.1126C>T (p.Arg376Trp) rs119472029 0.00014
NM_001363711.2(DUOX2):c.4552G>A (p.Gly1518Ser) rs368512412 0.00008
NM_001363711.2(DUOX2):c.1300C>T (p.Arg434Ter) rs119472026 0.00007
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.2000del (p.Leu667fs) rs772348846 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.2101C>T (p.Arg701Ter) rs201109959 0.00002
NM_001363711.2(DUOX2):c.1085_1103dup (p.Val369fs) rs1595527456 0.00001
NM_001363711.2(DUOX2):c.1478del (p.His493fs) rs751410726 0.00001
NM_001363711.2(DUOX2):c.1606C>T (p.Arg536Ter) rs368967911 0.00001
NM_001363711.2(DUOX2):c.1741C>T (p.Gln581Ter) rs778921174 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.3328C>T (p.Arg1110Ter) rs531536885 0.00001
NM_001363711.2(DUOX2):c.430C>T (p.Gln144Ter) rs1173244456 0.00001
NC_000015.10:g.45098049_45098064del
NC_000015.9:g.(?_45393971)_(45394207_?)del
NM_001363711.2(DUOX2):c.1008del (p.Ser337fs)
NM_001363711.2(DUOX2):c.1057_1058del (p.Phe353fs)
NM_001363711.2(DUOX2):c.1149_1155del (p.Ser383fs)
NM_001363711.2(DUOX2):c.1153C>T (p.Gln385Ter) rs760186738
NM_001363711.2(DUOX2):c.1180_1181del (p.Met394fs)
NM_001363711.2(DUOX2):c.1247del (p.Gly416fs)
NM_001363711.2(DUOX2):c.1275T>G (p.Tyr425Ter)
NM_001363711.2(DUOX2):c.130_148del (p.Asn44fs)
NM_001363711.2(DUOX2):c.1327C>T (p.Gln443Ter)
NM_001363711.2(DUOX2):c.1425C>A (p.Tyr475Ter)
NM_001363711.2(DUOX2):c.1425C>G (p.Tyr475Ter)
NM_001363711.2(DUOX2):c.145G>T (p.Glu49Ter)
NM_001363711.2(DUOX2):c.1461_1462delinsCA (p.Gly488Arg) rs2141153735
NM_001363711.2(DUOX2):c.1461_1462inv (p.Gly488Arg)
NM_001363711.2(DUOX2):c.1517dup (p.Asp506fs)
NM_001363711.2(DUOX2):c.152dup (p.Ala52fs) rs2141160202
NM_001363711.2(DUOX2):c.1554G>A (p.Trp518Ter)
NM_001363711.2(DUOX2):c.1585A>T (p.Lys529Ter)
NM_001363711.2(DUOX2):c.165C>A (p.Cys55Ter)
NM_001363711.2(DUOX2):c.1686G>A (p.Trp562Ter)
NM_001363711.2(DUOX2):c.16_19dup (p.Glu7fs)
NM_001363711.2(DUOX2):c.1708C>T (p.Gln570Ter)
NM_001363711.2(DUOX2):c.1717C>T (p.Gln573Ter)
NM_001363711.2(DUOX2):c.1726dup (p.Thr576fs)
NM_001363711.2(DUOX2):c.172C>T (p.Gln58Ter)
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.1894_1895del (p.Lys632fs) rs2141151636
NM_001363711.2(DUOX2):c.1904_1907del (p.Lys635fs)
NM_001363711.2(DUOX2):c.1906G>T (p.Glu636Ter)
NM_001363711.2(DUOX2):c.1921G>T (p.Glu641Ter)
NM_001363711.2(DUOX2):c.1969del (p.Glu657fs)
NM_001363711.2(DUOX2):c.2056C>T (p.Gln686Ter) rs119472027
NM_001363711.2(DUOX2):c.2071C>T (p.Gln691Ter)
NM_001363711.2(DUOX2):c.2074C>T (p.Gln692Ter)
NM_001363711.2(DUOX2):c.2109C>A (p.Cys703Ter)
NM_001363711.2(DUOX2):c.2157del (p.Phe720fs)
NM_001363711.2(DUOX2):c.2178_2182dup (p.Ala728fs)
NM_001363711.2(DUOX2):c.2180del (p.Gly727fs)
NM_001363711.2(DUOX2):c.2202G>A (p.Trp734Ter)
NM_001363711.2(DUOX2):c.2213_2214del (p.Val738fs)
NM_001363711.2(DUOX2):c.2323del (p.Leu775fs)
NM_001363711.2(DUOX2):c.2335-2A>T
NM_001363711.2(DUOX2):c.2412C>A (p.Cys804Ter)
NM_001363711.2(DUOX2):c.2413G>T (p.Glu805Ter)
NM_001363711.2(DUOX2):c.2428G>T (p.Glu810Ter)
NM_001363711.2(DUOX2):c.2552del (p.Phe851fs)
NM_001363711.2(DUOX2):c.2635G>T (p.Glu879Ter)
NM_001363711.2(DUOX2):c.2654G>A (p.Arg885Gln) rs181461079
NM_001363711.2(DUOX2):c.2713G>T (p.Glu905Ter)
NM_001363711.2(DUOX2):c.2719_2720del (p.Met907fs)
NM_001363711.2(DUOX2):c.2728G>T (p.Glu910Ter)
NM_001363711.2(DUOX2):c.2749dup (p.Glu917fs) rs2141146617
NM_001363711.2(DUOX2):c.2752G>T (p.Glu918Ter) rs1380632698
NM_001363711.2(DUOX2):c.2762G>A (p.Trp921Ter)
NM_001363711.2(DUOX2):c.2791dup (p.His931fs)
NM_001363711.2(DUOX2):c.2800G>T (p.Glu934Ter)
NM_001363711.2(DUOX2):c.2815C>T (p.Gln939Ter)
NM_001363711.2(DUOX2):c.2823T>A (p.Cys941Ter)
NM_001363711.2(DUOX2):c.2869_2870insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGAGATATCTTTA (p.Lys957delinsIlePhePhePhePhePhePheXaaXaaXaaXaaAspLeuMetIleHisProProArgProProLysValLeuGlyLeuGlnAlaTer)
NM_001363711.2(DUOX2):c.2887C>T (p.Arg963Ter) rs199783724
NM_001363711.2(DUOX2):c.2895_2898del (p.Phe966fs) rs530719719
NM_001363711.2(DUOX2):c.2907dup (p.Thr970fs) rs775863038
NM_001363711.2(DUOX2):c.2965G>T (p.Glu989Ter)
NM_001363711.2(DUOX2):c.2972del (p.Gly991fs)
NM_001363711.2(DUOX2):c.2997del (p.Phe999fs)
NM_001363711.2(DUOX2):c.3033C>A (p.Tyr1011Ter) rs765438725
NM_001363711.2(DUOX2):c.3061C>T (p.Arg1021Ter)
NM_001363711.2(DUOX2):c.3076C>T (p.Gln1026Ter)
NM_001363711.2(DUOX2):c.3085C>T (p.Gln1029Ter)
NM_001363711.2(DUOX2):c.3101del (p.Phe1034fs)
NM_001363711.2(DUOX2):c.3134_3135del (p.Val1045fs)
NM_001363711.2(DUOX2):c.3160_3167del (p.Gly1054fs)
NM_001363711.2(DUOX2):c.316dup (p.Val106fs)
NM_001363711.2(DUOX2):c.3183C>G (p.Tyr1061Ter)
NM_001363711.2(DUOX2):c.3186C>A (p.Tyr1062Ter)
NM_001363711.2(DUOX2):c.3325del (p.Leu1109fs)
NM_001363711.2(DUOX2):c.3340del (p.Leu1114fs) rs748194265
NM_001363711.2(DUOX2):c.3423_3424del (p.His1141fs) rs1009807148
NM_001363711.2(DUOX2):c.3475CTG[1] (p.Leu1160del)
NM_001363711.2(DUOX2):c.3486C>A (p.Cys1162Ter) rs2141143799
NM_001363711.2(DUOX2):c.3546G>A (p.Trp1182Ter)
NM_001363711.2(DUOX2):c.3616G>A (p.Ala1206Thr)
NM_001363711.2(DUOX2):c.3640del (p.Ser1214fs)
NM_001363711.2(DUOX2):c.3667del (p.His1223fs) rs754179275
NM_001363711.2(DUOX2):c.3751del (p.Leu1251fs) rs1566971699
NM_001363711.2(DUOX2):c.3901C>T (p.Gln1301Ter)
NM_001363711.2(DUOX2):c.3920_3927del (p.Cys1307fs)
NM_001363711.2(DUOX2):c.3953del (p.Phe1318fs)
NM_001363711.2(DUOX2):c.4022del (p.Thr1341fs)
NM_001363711.2(DUOX2):c.4033del (p.Glu1345fs)
NM_001363711.2(DUOX2):c.4093G>T (p.Gly1365Ter)
NM_001363711.2(DUOX2):c.4152del (p.Gly1386fs)
NM_001363711.2(DUOX2):c.4343_4349del (p.His1448fs)
NM_001363711.2(DUOX2):c.4350T>A (p.Tyr1450Ter)
NM_001363711.2(DUOX2):c.4357C>T (p.Gln1453Ter)
NM_001363711.2(DUOX2):c.438_439dup (p.Asp147fs)
NM_001363711.2(DUOX2):c.4482dup (p.Phe1495fs)
NM_001363711.2(DUOX2):c.4516del (p.His1506fs)
NM_001363711.2(DUOX2):c.4522C>T (p.Gln1508Ter) rs2141138964
NM_001363711.2(DUOX2):c.4524+1dup rs578014563
NM_001363711.2(DUOX2):c.457C>T (p.Gln153Ter)
NM_001363711.2(DUOX2):c.477del (p.Glu160fs)
NM_001363711.2(DUOX2):c.493_506del (p.Pro165fs)
NM_001363711.2(DUOX2):c.505del (p.Arg169fs)
NM_001363711.2(DUOX2):c.602dup (p.Gln202fs) rs567500345
NM_001363711.2(DUOX2):c.84del (p.Leu29fs)
NM_001363711.2(DUOX2):c.88dup (p.Ser30fs)
NM_001363711.2(DUOX2):c.943G>T (p.Gly315Ter)
NM_001363711.2(DUOX2):c.978_979delinsTT (p.Glu327Ter) rs1566977567

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