ClinVar Miner

List of variants in gene DUOX2 reported by Ambry Genetics

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Gene type:
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Total variants: 71
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HGVS dbSNP gnomAD frequency
NM_001363711.2(DUOX2):c.700C>T (p.Pro234Ser) rs553859355 0.00298
NM_001363711.2(DUOX2):c.3155G>A (p.Cys1052Tyr) rs76343591 0.00109
NM_001363711.2(DUOX2):c.3559G>A (p.Val1187Ile) rs138971379 0.00091
NM_001363711.2(DUOX2):c.3637C>T (p.Arg1213Cys) rs138743322 0.00041
NM_001363711.2(DUOX2):c.1415C>A (p.Ala472Asp) rs201703879 0.00034
NM_001363711.2(DUOX2):c.1462G>A (p.Gly488Arg) rs191759494 0.00024
NM_001363711.2(DUOX2):c.1196C>T (p.Ser399Leu) rs147435713 0.00020
NM_001363711.2(DUOX2):c.3383G>A (p.Arg1128His) rs374614801 0.00019
NM_001363711.2(DUOX2):c.1867C>T (p.Arg623Trp) rs142226749 0.00013
NM_001363711.2(DUOX2):c.1300C>T (p.Arg434Ter) rs119472026 0.00007
NM_001363711.2(DUOX2):c.1622G>A (p.Arg541Gln) rs376118025 0.00007
NM_001363711.2(DUOX2):c.3910C>T (p.Arg1304Trp) rs534696164 0.00007
NM_001363711.2(DUOX2):c.1061G>A (p.Arg354Gln) rs370954970 0.00006
NM_001363711.2(DUOX2):c.2609A>G (p.Asp870Gly) rs143258582 0.00006
NM_001363711.2(DUOX2):c.3758C>T (p.Pro1253Leu) rs772669214 0.00006
NM_001363711.2(DUOX2):c.3397G>C (p.Ala1133Pro) rs765163513 0.00003
NM_001363711.2(DUOX2):c.3518C>T (p.Ser1173Phe) rs148718959 0.00003
NM_001363711.2(DUOX2):c.1153C>G (p.Gln385Glu) rs760186738 0.00002
NM_001363711.2(DUOX2):c.1774G>A (p.Glu592Lys) rs1894233118 0.00001
NM_001363711.2(DUOX2):c.1395_1396del (p.Gln466fs)
NM_001363711.2(DUOX2):c.1439C>G (p.Ser480Cys)
NM_001363711.2(DUOX2):c.1636G>T (p.Ala546Ser)
NM_001363711.2(DUOX2):c.166C>G (p.Arg56Gly)
NM_001363711.2(DUOX2):c.1738C>T (p.Pro580Ser)
NM_001363711.2(DUOX2):c.175C>G (p.Arg59Gly)
NM_001363711.2(DUOX2):c.1912G>A (p.Val638Met)
NM_001363711.2(DUOX2):c.2123T>G (p.Leu708Arg)
NM_001363711.2(DUOX2):c.2525G>A (p.Arg842Gln)
NM_001363711.2(DUOX2):c.256A>C (p.Asn86His)
NM_001363711.2(DUOX2):c.2696A>T (p.Gln899Leu)
NM_001363711.2(DUOX2):c.2726G>A (p.Arg909Gln)
NM_001363711.2(DUOX2):c.2783T>C (p.Leu928Pro)
NM_001363711.2(DUOX2):c.2895_2898del (p.Phe966fs) rs530719719
NM_001363711.2(DUOX2):c.2938C>A (p.Leu980Met)
NM_001363711.2(DUOX2):c.307G>A (p.Val103Ile)
NM_001363711.2(DUOX2):c.316G>T (p.Val106Phe)
NM_001363711.2(DUOX2):c.3197C>T (p.Ala1066Val)
NM_001363711.2(DUOX2):c.3209C>T (p.Ser1070Leu)
NM_001363711.2(DUOX2):c.343G>C (p.Asp115His)
NM_001363711.2(DUOX2):c.3474C>G (p.Ser1158Arg)
NM_001363711.2(DUOX2):c.3479T>C (p.Leu1160Pro)
NM_001363711.2(DUOX2):c.3598G>T (p.Ala1200Ser)
NM_001363711.2(DUOX2):c.3693+5G>C
NM_001363711.2(DUOX2):c.3769T>A (p.Tyr1257Asn)
NM_001363711.2(DUOX2):c.376G>T (p.Ala126Ser)
NM_001363711.2(DUOX2):c.3830C>G (p.Ala1277Gly) rs143471358
NM_001363711.2(DUOX2):c.3881G>C (p.Gly1294Ala)
NM_001363711.2(DUOX2):c.3916G>A (p.Ala1306Thr)
NM_001363711.2(DUOX2):c.3983C>A (p.Thr1328Lys)
NM_001363711.2(DUOX2):c.4097C>T (p.Pro1366Leu)
NM_001363711.2(DUOX2):c.4271G>A (p.Arg1424His)
NM_001363711.2(DUOX2):c.4396-2A>G
NM_001363711.2(DUOX2):c.4433G>A (p.Arg1478Gln) rs759342749
NM_001363711.2(DUOX2):c.4481C>A (p.Pro1494His) rs576041718
NM_001363711.2(DUOX2):c.4481C>G (p.Pro1494Arg) rs576041718
NM_001363711.2(DUOX2):c.4533G>T (p.Lys1511Asn)
NM_001363711.2(DUOX2):c.4543T>C (p.Phe1515Leu)
NM_001363711.2(DUOX2):c.4558C>T (p.Pro1520Ser)
NM_001363711.2(DUOX2):c.4631A>G (p.His1544Arg)
NM_001363711.2(DUOX2):c.470G>T (p.Trp157Leu)
NM_001363711.2(DUOX2):c.476C>T (p.Pro159Leu)
NM_001363711.2(DUOX2):c.523G>A (p.Val175Met)
NM_001363711.2(DUOX2):c.540C>A (p.Asp180Glu)
NM_001363711.2(DUOX2):c.587G>A (p.Arg196Gln)
NM_001363711.2(DUOX2):c.623A>C (p.Asp208Ala)
NM_001363711.2(DUOX2):c.625C>G (p.Pro209Ala)
NM_001363711.2(DUOX2):c.671C>T (p.Ala224Val)
NM_001363711.2(DUOX2):c.728A>C (p.Glu243Ala)
NM_001363711.2(DUOX2):c.838G>A (p.Glu280Lys)
NM_001363711.2(DUOX2):c.846C>A (p.Phe282Leu)
NM_001363711.2(DUOX2):c.896A>G (p.Tyr299Cys)

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