ClinVar Miner

Variants in gene DUOX2 with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 21
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001363711.2(DUOX2):c.1921G>A (p.Glu641Lys) rs139161034 0.00343
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.598G>A (p.Gly200Arg) rs2467827 0.00146
NM_001363711.2(DUOX2):c.1709A>T (p.Gln570Leu) rs547116063 0.00131
NM_001363711.2(DUOX2):c.3232G>A (p.Val1078Met) rs147772932 0.00130
NM_001363711.2(DUOX2):c.4637A>G (p.Glu1546Gly) rs201229193 0.00078
NM_001363711.2(DUOX2):c.2793T>C (p.His931=) rs138306055 0.00060
NM_001363711.2(DUOX2):c.2794G>A (p.Asp932Asn) rs147047438 0.00060
NM_001363711.2(DUOX2):c.2796C>T (p.Asp932=) rs141644475 0.00060
NM_001363711.2(DUOX2):c.2906G>A (p.Arg969Gln) rs146664125 0.00056
NM_001363711.2(DUOX2):c.3103G>A (p.Val1035Met) rs138774384 0.00043
NM_001363711.2(DUOX2):c.4027C>T (p.Leu1343Phe) rs147945181 0.00031
NM_001363711.2(DUOX2):c.2725C>T (p.Arg909Trp) rs150698607 0.00024
NM_001363711.2(DUOX2):c.1060C>T (p.Arg354Trp) rs766496010 0.00014
NM_001363711.2(DUOX2):c.1268C>T (p.Thr423Ile) rs201197899 0.00012
NM_001363711.2(DUOX2):c.1189C>A (p.Gln397Lys) rs200989933 0.00008
NM_001363711.2(DUOX2):c.1933G>T (p.Asp645Tyr) rs773358950 0.00006
NM_001363711.2(DUOX2):c.4046C>G (p.Ser1349Cys) rs768030115 0.00004
NM_001363711.2(DUOX2):c.3830C>G (p.Ala1277Gly) rs143471358
NM_001363711.2(DUOX2):c.4239+3G>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.