ClinVar Miner

Variants in gene DUOX2 with conflicting interpretations

See also:
Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
1735 97 0 27 21 0 11 57

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 20 3 0 0
likely pathogenic 20 0 7 3 0
uncertain significance 3 7 0 21 0
likely benign 0 3 21 0 7
benign 0 0 0 7 0

All variants with conflicting interpretations #

Total variants: 57
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001363711.2(DUOX2):c.908C>G (p.Pro303Arg) rs151261408 0.01090
NM_001363711.2(DUOX2):c.2182G>A (p.Ala728Thr) rs138353181 0.00700
NM_001363711.2(DUOX2):c.1921G>A (p.Glu641Lys) rs139161034 0.00343
NM_001363711.2(DUOX2):c.512T>C (p.Leu171Pro) rs199957468 0.00285
NM_001363711.2(DUOX2):c.2950G>T (p.Ala984Ser) rs138358075 0.00235
NM_001363711.2(DUOX2):c.2544G>C (p.Leu848=) rs139095108 0.00232
NM_001363711.2(DUOX2):c.1351G>A (p.Asp451Asn) rs139786814 0.00183
NM_001363711.2(DUOX2):c.597G>C (p.Ser199=) rs2467828 0.00148
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.3155G>A (p.Cys1052Tyr) rs76343591 0.00109
NM_001363711.2(DUOX2):c.567C>T (p.His189=) rs2467829 0.00099
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.1462G>A (p.Gly488Arg) rs191759494 0.00024
NM_001363711.2(DUOX2):c.2725C>T (p.Arg909Trp) rs150698607 0.00024
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.1060C>T (p.Arg354Trp) rs766496010 0.00014
NM_001363711.2(DUOX2):c.1126C>T (p.Arg376Trp) rs119472029 0.00014
NM_001363711.2(DUOX2):c.1825C>T (p.Pro609Ser) rs201221237 0.00014
NM_001363711.2(DUOX2):c.1268C>T (p.Thr423Ile) rs201197899 0.00012
NM_001363711.2(DUOX2):c.2922-14_2925del rs760031457 0.00011
NM_001363711.2(DUOX2):c.1189C>A (p.Gln397Lys) rs200989933 0.00008
NM_001363711.2(DUOX2):c.3329G>A (p.Arg1110Gln) rs368488511 0.00008
NM_001363711.2(DUOX2):c.4552G>A (p.Gly1518Ser) rs368512412 0.00008
NM_001363711.2(DUOX2):c.1933G>T (p.Asp645Tyr) rs773358950 0.00006
NM_001363711.2(DUOX2):c.2524C>T (p.Arg842Ter) rs119472028 0.00006
NM_001363711.2(DUOX2):c.3615C>T (p.Phe1205=) rs201261436 0.00006
NM_001363711.2(DUOX2):c.1295G>A (p.Arg432His) rs530736554 0.00004
NM_001363711.2(DUOX2):c.2653C>T (p.Arg885Ter) rs199589510 0.00004
NM_001363711.2(DUOX2):c.4046C>G (p.Ser1349Cys) rs768030115 0.00004
NM_001363711.2(DUOX2):c.1478del (p.His493fs) rs751410726 0.00001
NM_001363711.2(DUOX2):c.3328C>T (p.Arg1110Ter) rs531536885 0.00001
NM_001363711.2(DUOX2):c.3516-1G>C rs764517475 0.00001
NM_001363711.2(DUOX2):c.1873C>T (p.Arg625Ter) rs770083296
NM_001363711.2(DUOX2):c.1946C>A (p.Ala649Glu) rs748793969
NM_001363711.2(DUOX2):c.2048G>T (p.Arg683Leu) rs8028305
NM_001363711.2(DUOX2):c.2654G>A (p.Arg885Gln) rs181461079
NM_001363711.2(DUOX2):c.2654G>T (p.Arg885Leu) rs181461079
NM_001363711.2(DUOX2):c.2713G>T (p.Glu905Ter)
NM_001363711.2(DUOX2):c.2895_2898del (p.Phe966fs) rs530719719
NM_001363711.2(DUOX2):c.3061C>T (p.Arg1021Ter)
NM_001363711.2(DUOX2):c.3076C>T (p.Gln1026Ter)
NM_001363711.2(DUOX2):c.3340del (p.Leu1114fs) rs748194265
NM_001363711.2(DUOX2):c.3423_3424del (p.His1141fs) rs1009807148
NM_001363711.2(DUOX2):c.3667del (p.His1223fs) rs754179275
NM_001363711.2(DUOX2):c.3751del (p.Leu1251fs) rs1566971699
NM_001363711.2(DUOX2):c.3830C>G (p.Ala1277Gly) rs143471358
NM_001363711.2(DUOX2):c.4239+3G>T
NM_001363711.2(DUOX2):c.602dup (p.Gln202fs) rs567500345

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