ClinVar Miner

List of variants in gene DUOX2 reported as uncertain significance by GeneDx

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Gene type:
ClinVar version:
Total variants: 83
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HGVS dbSNP gnomAD frequency
NM_001363711.2(DUOX2):c.2950G>T (p.Ala984Ser) rs138358075 0.00235
NM_001363711.2(DUOX2):c.1351G>A (p.Asp451Asn) rs139786814 0.00183
NM_001363711.2(DUOX2):c.4637A>G (p.Glu1546Gly) rs201229193 0.00073
NM_001363711.2(DUOX2):c.3515+5G>T rs375943962 0.00052
NM_001363711.2(DUOX2):c.1709A>T (p.Gln570Leu) rs547116063 0.00042
NM_001363711.2(DUOX2):c.3103G>A (p.Val1035Met) rs138774384 0.00041
NM_001363711.2(DUOX2):c.4027C>T (p.Leu1343Phe) rs147945181 0.00037
NM_001363711.2(DUOX2):c.4320C>G (p.Asp1440Glu) rs115865111 0.00037
NM_001363711.2(DUOX2):c.1415C>A (p.Ala472Asp) rs201703879 0.00034
NM_001363711.2(DUOX2):c.2725C>T (p.Arg909Trp) rs150698607 0.00024
NM_001363711.2(DUOX2):c.3383G>A (p.Arg1128His) rs374614801 0.00019
NM_001363711.2(DUOX2):c.1825C>T (p.Pro609Ser) rs201221237 0.00018
NM_001363711.2(DUOX2):c.2176C>T (p.Arg726Trp) rs141573582 0.00018
NM_001363711.2(DUOX2):c.4475G>A (p.Arg1492His) rs144543420 0.00018
NM_001363711.2(DUOX2):c.2335G>A (p.Val779Met) rs145061993 0.00017
NM_001363711.2(DUOX2):c.4025G>A (p.Arg1342His) rs140110061 0.00017
NM_001363711.2(DUOX2):c.4097C>T (p.Pro1366Leu) rs201451019 0.00017
NM_001363711.2(DUOX2):c.1060C>T (p.Arg354Trp) rs766496010 0.00014
NM_001363711.2(DUOX2):c.1268C>T (p.Thr423Ile) rs201197899 0.00013
NM_001363711.2(DUOX2):c.533G>T (p.Trp178Leu) rs190660925 0.00013
NM_001363711.2(DUOX2):c.2922-14_2925del rs760031457 0.00011
NM_001363711.2(DUOX2):c.2894C>T (p.Ser965Leu) rs144153950 0.00009
NM_001363711.2(DUOX2):c.1234G>A (p.Asp412Asn) rs199933270 0.00008
NM_001363711.2(DUOX2):c.602G>A (p.Gly201Glu) rs753880185 0.00007
NM_001363711.2(DUOX2):c.1933G>T (p.Asp645Tyr) rs773358950 0.00006
NM_001363711.2(DUOX2):c.2504G>A (p.Gly835Asp) rs772637424 0.00006
NM_001363711.2(DUOX2):c.498C>A (p.Ser166Arg) rs370438048 0.00006
NM_001363711.2(DUOX2):c.3632G>A (p.Arg1211His) rs141763307 0.00004
NM_001363711.2(DUOX2):c.1553G>T (p.Trp518Leu) rs763273601 0.00003
NM_001363711.2(DUOX2):c.175C>G (p.Arg59Gly) rs774578957 0.00003
NM_001363711.2(DUOX2):c.1912G>A (p.Val638Met) rs192880210 0.00003
NM_001363711.2(DUOX2):c.2921G>A (p.Arg974His) rs778216481 0.00003
NM_001363711.2(DUOX2):c.3847+2T>C rs199752932 0.00003
NM_001363711.2(DUOX2):c.1717C>T (p.Gln573Ter) rs769605933 0.00002
NM_001363711.2(DUOX2):c.4080+5C>G rs1397807319 0.00002
NM_001363711.2(DUOX2):c.427G>T (p.Asp143Tyr) rs371464257 0.00002
NM_001363711.2(DUOX2):c.1015A>G (p.Met339Val) rs2141156094 0.00001
NM_001363711.2(DUOX2):c.1831+5G>C rs201688711 0.00001
NM_001363711.2(DUOX2):c.2291G>A (p.Arg764Gln) rs201884203 0.00001
NM_001363711.2(DUOX2):c.2408C>T (p.Thr803Ile) rs779486571 0.00001
NM_001363711.2(DUOX2):c.3416-2A>C rs758000012 0.00001
NM_001363711.2(DUOX2):c.3770A>G (p.Tyr1257Cys) rs202111642 0.00001
NM_001363711.2(DUOX2):c.4075C>A (p.Pro1359Thr) rs1424506821 0.00001
NM_001363711.2(DUOX2):c.4081-3C>A rs368206523 0.00001
NM_001363711.2(DUOX2):c.4088T>C (p.Leu1363Pro) rs767102567 0.00001
NM_001363711.2(DUOX2):c.4246T>A (p.Phe1416Ile) rs1893866328 0.00001
NM_001363711.2(DUOX2):c.4403G>A (p.Cys1468Tyr) rs143154243 0.00001
NM_001363711.2(DUOX2):c.4561G>T (p.Gly1521Ter) rs765781255 0.00001
NM_001363711.2(DUOX2):c.4631A>G (p.His1544Arg) rs754342496 0.00001
NM_001363711.2(DUOX2):c.896A>G (p.Tyr299Cys) rs758867743 0.00001
NM_001363711.2(DUOX2):c.974C>T (p.Ser325Phe) rs377608586 0.00001
NM_001363711.2(DUOX2):c.1001A>C (p.Gln334Pro)
NM_001363711.2(DUOX2):c.104T>C (p.Val35Ala) rs1424915202
NM_001363711.2(DUOX2):c.1111A>C (p.Asn371His) rs2504778630
NM_001363711.2(DUOX2):c.1136C>G (p.Pro379Arg) rs2504777696
NM_001363711.2(DUOX2):c.1247G>T (p.Gly416Val)
NM_001363711.2(DUOX2):c.2412C>A (p.Cys804Ter) rs376911583
NM_001363711.2(DUOX2):c.2546T>C (p.Val849Ala) rs1894152955
NM_001363711.2(DUOX2):c.2564C>T (p.Ser855Phe) rs1051450369
NM_001363711.2(DUOX2):c.260C>G (p.Ala87Gly) rs771811082
NM_001363711.2(DUOX2):c.2793_2796delinsCAAT (p.Asp932Asn) rs1064796650
NM_001363711.2(DUOX2):c.2887C>G (p.Arg963Gly) rs199783724
NM_001363711.2(DUOX2):c.2997del (p.Phe999fs) rs774830832
NM_001363711.2(DUOX2):c.301C>T (p.Arg101Cys)
NM_001363711.2(DUOX2):c.3235G>A (p.Gly1079Ser) rs2141144373
NM_001363711.2(DUOX2):c.325+5G>T
NM_001363711.2(DUOX2):c.3355C>T (p.Pro1119Ser) rs1274376858
NM_001363711.2(DUOX2):c.355G>T (p.Val119Leu) rs138970496
NM_001363711.2(DUOX2):c.367G>C (p.Gly123Arg) rs1334915762
NM_001363711.2(DUOX2):c.3787G>A (p.Val1263Met) rs777339657
NM_001363711.2(DUOX2):c.3808G>C (p.Val1270Leu) rs943016066
NM_001363711.2(DUOX2):c.3830C>G (p.Ala1277Gly) rs143471358
NM_001363711.2(DUOX2):c.3854C>G (p.Thr1285Ser) rs1893893820
NM_001363711.2(DUOX2):c.3901C>A (p.Gln1301Lys) rs768210021
NM_001363711.2(DUOX2):c.3968C>T (p.Ala1323Val) rs78020568
NM_001363711.2(DUOX2):c.4006G>C (p.Val1336Leu) rs1431849053
NM_001363711.2(DUOX2):c.4478C>T (p.Pro1493Leu) rs768334494
NM_001363711.2(DUOX2):c.4478_4479delinsTG (p.Pro1493Leu) rs2141139005
NM_001363711.2(DUOX2):c.4507C>A (p.Gln1503Lys)
NM_001363711.2(DUOX2):c.4558C>G (p.Pro1520Ala) rs1893837403
NM_001363711.2(DUOX2):c.542G>T (p.Gly181Val)
NM_001363711.2(DUOX2):c.635C>G (p.Pro212Arg) rs1202267673
NM_001363711.2(DUOX2):c.992C>T (p.Ala331Val) rs2504780373

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