ClinVar Miner

List of variants in gene DUOX2 reported as likely pathogenic for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 61
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001363711.2(DUOX2):c.1709A>T (p.Gln570Leu) rs547116063 0.00131
NM_001363711.2(DUOX2):c.3155G>A (p.Cys1052Tyr) rs76343591 0.00109
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.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.3693+1G>T rs200717240 0.00006
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.1478del (p.His493fs) rs751410726 0.00001
NM_001363711.2(DUOX2):c.1574+2T>C rs1255838105 0.00001
NM_001363711.2(DUOX2):c.3328C>T (p.Arg1110Ter) rs531536885 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.1040+1G>C
NM_001363711.2(DUOX2):c.1234+1G>T rs1894320928
NM_001363711.2(DUOX2):c.1398+2T>C rs781491435
NM_001363711.2(DUOX2):c.1461_1462delinsA (p.Leu489fs) rs2141153740
NM_001363711.2(DUOX2):c.161-1G>T
NM_001363711.2(DUOX2):c.161-2A>T
NM_001363711.2(DUOX2):c.1693+1G>C
NM_001363711.2(DUOX2):c.1694-2A>T
NM_001363711.2(DUOX2):c.1831+2T>G
NM_001363711.2(DUOX2):c.2048G>T (p.Arg683Leu) rs8028305
NM_001363711.2(DUOX2):c.2148+1G>C
NM_001363711.2(DUOX2):c.2148+1G>T
NM_001363711.2(DUOX2):c.2334+1G>A
NM_001363711.2(DUOX2):c.2334+2T>G
NM_001363711.2(DUOX2):c.2560+1G>A
NM_001363711.2(DUOX2):c.2560+2T>C
NM_001363711.2(DUOX2):c.2561-2A>G
NM_001363711.2(DUOX2):c.2654+1G>A
NM_001363711.2(DUOX2):c.2654G>T (p.Arg885Leu) rs181461079
NM_001363711.2(DUOX2):c.2921+101_3001del
NM_001363711.2(DUOX2):c.3005+1G>T
NM_001363711.2(DUOX2):c.3006-1G>A
NM_001363711.2(DUOX2):c.3061C>T (p.Arg1021Ter)
NM_001363711.2(DUOX2):c.3340del (p.Leu1114fs) rs748194265
NM_001363711.2(DUOX2):c.3415+1G>A rs941026356
NM_001363711.2(DUOX2):c.3515+1G>A
NM_001363711.2(DUOX2):c.3516-1G>T
NM_001363711.2(DUOX2):c.3565+1G>T
NM_001363711.2(DUOX2):c.3656G>A (p.Trp1219Ter) rs377189285
NM_001363711.2(DUOX2):c.3667del (p.His1223fs) rs754179275
NM_001363711.2(DUOX2):c.3692_3693+13del
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.4239+1G>A
NM_001363711.2(DUOX2):c.4239+2T>G
NM_001363711.2(DUOX2):c.4521del (p.Gln1508fs) rs1893849623
NM_001363711.2(DUOX2):c.4553G>A (p.Gly1518Asp)
NM_001363711.2(DUOX2):c.506G>A (p.Arg169Gln)
NM_001363711.2(DUOX2):c.605_621del (p.Gln202fs) rs769318570
NM_001363711.2(DUOX2):c.925del (p.Thr309fs) rs1894362961
NM_001363711.2(DUOX2):c.944-1G>A
NM_001363711.2(DUOX2):c.944-2A>T

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.