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
1896 173 0 49 24 0 21 88

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 29 7 0 0
likely pathogenic 29 0 14 3 0
uncertain significance 7 14 0 24 0
likely benign 0 3 24 0 20
benign 0 0 0 20 0

All variants with conflicting interpretations #

Total variants: 88
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001363711.2(DUOX2):c.2148+9C>T rs73406337 0.07581
NM_001363711.2(DUOX2):c.2286G>A (p.Gln762=) rs73406334 0.07466
NM_001363711.2(DUOX2):c.2102G>A (p.Arg701Gln) rs113400262 0.04972
NM_001363711.2(DUOX2):c.1302A>G (p.Arg434=) rs78412174 0.03060
NM_001363711.2(DUOX2):c.3966C>T (p.Ser1322=) rs61730032 0.02613
NM_001363711.2(DUOX2):c.3261G>A (p.Ala1087=) rs79480907 0.01330
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.3042G>A (p.Ala1014=) rs112598817 0.00475
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.1095A>G (p.Gln365=) rs76985372 0.00179
NM_001363711.2(DUOX2):c.597G>C (p.Ser199=) rs2467828 0.00148
NM_001363711.2(DUOX2):c.598G>A (p.Gly200Arg) rs2467827 0.00142
NM_001363711.2(DUOX2):c.3232G>A (p.Val1078Met) rs147772932 0.00125
NM_001363711.2(DUOX2):c.303C>A (p.Arg101=) rs117041393 0.00124
NM_001363711.2(DUOX2):c.3155G>A (p.Cys1052Tyr) rs76343591 0.00109
NM_001363711.2(DUOX2):c.567C>T (p.His189=) rs2467829 0.00078
NM_001363711.2(DUOX2):c.4637A>G (p.Glu1546Gly) rs201229193 0.00073
NM_001363711.2(DUOX2):c.2793T>C (p.His931=) rs138306055 0.00062
NM_001363711.2(DUOX2):c.2796C>T (p.Asp932=) rs141644475 0.00062
NM_001363711.2(DUOX2):c.2794G>A (p.Asp932Asn) rs147047438 0.00060
NM_001363711.2(DUOX2):c.2906G>A (p.Arg969Gln) rs146664125 0.00056
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.1462G>A (p.Gly488Arg) rs191759494 0.00025
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.1825C>T (p.Pro609Ser) rs201221237 0.00018
NM_001363711.2(DUOX2):c.4049C>T (p.Pro1350Leu) rs140035596 0.00017
NM_001363711.2(DUOX2):c.3391G>A (p.Ala1131Thr) rs147540920 0.00016
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.1268C>T (p.Thr423Ile) rs201197899 0.00013
NM_001363711.2(DUOX2):c.2922-14_2925del rs760031457 0.00011
NM_001363711.2(DUOX2):c.1189C>A (p.Gln397Lys) rs200989933 0.00009
NM_001363711.2(DUOX2):c.2597T>G (p.Met866Arg) rs200948626 0.00009
NM_001363711.2(DUOX2):c.1295G>A (p.Arg432His) rs530736554 0.00008
NM_001363711.2(DUOX2):c.3329G>A (p.Arg1110Gln) rs368488511 0.00008
NM_001363711.2(DUOX2):c.3693+1G>T rs200717240 0.00008
NM_001363711.2(DUOX2):c.4239+3G>T rs377517657 0.00008
NM_001363711.2(DUOX2):c.4552G>A (p.Gly1518Ser) rs368512412 0.00008
NM_001363711.2(DUOX2):c.1786C>T (p.Pro596Ser) rs373790251 0.00006
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.505C>T (p.Arg169Trp) rs201590426 0.00006
NM_001363711.2(DUOX2):c.2653C>T (p.Arg885Ter) rs199589510 0.00004
NM_001363711.2(DUOX2):c.3250C>T (p.Arg1084Ter) rs368975704 0.00004
NM_001363711.2(DUOX2):c.3328C>T (p.Arg1110Ter) rs531536885 0.00004
NM_001363711.2(DUOX2):c.3632G>A (p.Arg1211His) rs141763307 0.00004
NM_001363711.2(DUOX2):c.4046C>G (p.Ser1349Cys) rs768030115 0.00004
NM_001363711.2(DUOX2):c.2635G>A (p.Glu879Lys) rs774556391 0.00003
NM_001363711.2(DUOX2):c.3847+2T>C rs199752932 0.00003
NM_001363711.2(DUOX2):c.959T>C (p.Leu320Pro) rs544236153 0.00003
NM_001363711.2(DUOX2):c.1708C>T (p.Gln570Ter) rs1332668133 0.00002
NM_001363711.2(DUOX2):c.1717C>T (p.Gln573Ter) rs769605933 0.00002
NM_001363711.2(DUOX2):c.1478del (p.His493fs) rs751410726 0.00001
NM_001363711.2(DUOX2):c.2713G>T (p.Glu905Ter) rs776336201 0.00001
NM_001363711.2(DUOX2):c.3076C>T (p.Gln1026Ter) rs935436918 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.4561G>T (p.Gly1521Ter) rs765781255 0.00001
NM_001363711.2(DUOX2):c.1871del (p.Gly624fs) rs769258094
NM_001363711.2(DUOX2):c.1873C>T (p.Arg625Ter) rs770083296
NM_001363711.2(DUOX2):c.1883del (p.Lys628fs) rs200592893
NM_001363711.2(DUOX2):c.2048G>T (p.Arg683Leu) rs8028305
NM_001363711.2(DUOX2):c.2412C>A (p.Cys804Ter) rs376911583
NM_001363711.2(DUOX2):c.2654G>T (p.Arg885Leu) rs181461079
NM_001363711.2(DUOX2):c.2895_2898del (p.Phe966fs) rs530719719
NM_001363711.2(DUOX2):c.2944C>G (p.Pro982Ala) rs61730030
NM_001363711.2(DUOX2):c.2997del (p.Phe999fs) rs774830832
NM_001363711.2(DUOX2):c.3061C>T (p.Arg1021Ter) rs147452041
NM_001363711.2(DUOX2):c.3340del (p.Leu1114fs) rs748194265
NM_001363711.2(DUOX2):c.3367G>A (p.Ala1123Thr) rs113632824
NM_001363711.2(DUOX2):c.3423_3424del (p.His1141fs) rs1009807148
NM_001363711.2(DUOX2):c.3475CTG[1] (p.Leu1160del) rs758318135
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.4357C>T (p.Gln1453Ter) rs1188250699
NM_001363711.2(DUOX2):c.602dup (p.Gln202fs) rs567500345

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