ClinVar Miner

Variants in gene OTOGL with conflicting interpretations

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:

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
948 209 0 66 43 0 6 105

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 18 2 0 0
likely pathogenic 18 0 4 1 0
uncertain significance 2 4 0 42 10
likely benign 0 1 42 0 48
benign 0 0 10 48 0

All variants with conflicting interpretations #

Total variants: 105
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001378609.3(OTOGL):c.5407+13T>G rs371577790 0.01878
NM_001378609.3(OTOGL):c.3607+12A>C rs190638140 0.00676
NM_001378609.3(OTOGL):c.5923T>C (p.Leu1975=) rs73139245 0.00529
NM_001378609.3(OTOGL):c.5227T>A (p.Leu1743Ile) rs61729710 0.00351
NM_001378609.3(OTOGL):c.929G>A (p.Gly310Glu) rs186616540 0.00327
NM_001378609.3(OTOGL):c.3450+16A>C rs138262845 0.00253
NM_001378609.3(OTOGL):c.1711+11G>A rs111256101 0.00248
NM_001378609.3(OTOGL):c.3427A>G (p.Ile1143Val) rs117462138 0.00235
NM_001378609.3(OTOGL):c.2394C>T (p.Phe798=) rs111695304 0.00233
NM_001378609.3(OTOGL):c.5307T>C (p.Tyr1769=) rs183555119 0.00230
NM_001378609.3(OTOGL):c.3255T>C (p.Thr1085=) rs138823379 0.00204
NM_001378609.3(OTOGL):c.3069A>G (p.Gln1023=) rs144125797 0.00196
NM_001378609.3(OTOGL):c.3488A>G (p.Asp1163Gly) rs202085918 0.00195
NM_001378609.3(OTOGL):c.3356T>C (p.Ile1119Thr) rs150426222 0.00189
NM_001378609.3(OTOGL):c.1395-12A>G rs138572593 0.00187
NM_001378609.3(OTOGL):c.6283A>G (p.Ile2095Val) rs149249642 0.00172
NM_001378609.3(OTOGL):c.6968G>A (p.Arg2323Gln) rs143495342 0.00160
NM_001378609.3(OTOGL):c.3213+10C>T rs201373228 0.00137
NM_001378609.3(OTOGL):c.1990C>T (p.Pro664Ser) rs76420383 0.00136
NM_001378609.3(OTOGL):c.4906G>A (p.Glu1636Lys) rs143817729 0.00136
NM_001378609.3(OTOGL):c.236-10T>C rs769949412 0.00128
NM_001378609.3(OTOGL):c.93A>G (p.Ala31=) rs147902353 0.00127
NM_001378609.3(OTOGL):c.2456C>T (p.Ser819Leu) rs199855270 0.00126
NM_001378609.3(OTOGL):c.4199+10G>A rs149452803 0.00123
NM_001378609.3(OTOGL):c.519G>A (p.Ser173=) rs181528168 0.00121
NM_001378609.3(OTOGL):c.917C>T (p.Pro306Leu) rs200050988 0.00121
NM_001378609.3(OTOGL):c.3010T>C (p.Leu1004=) rs182548010 0.00116
NM_001378609.3(OTOGL):c.860C>T (p.Ser287Leu) rs147195954 0.00113
NM_001378609.3(OTOGL):c.2564C>T (p.Pro855Leu) rs183159689 0.00111
NM_001378609.3(OTOGL):c.6229T>G (p.Cys2077Gly) rs145929269 0.00105
NM_001378609.3(OTOGL):c.6626C>T (p.Thr2209Ile) rs146572555 0.00096
NM_001378609.3(OTOGL):c.1815G>T (p.Gln605His) rs192234924 0.00094
NM_001378609.3(OTOGL):c.5617C>A (p.Pro1873Thr) rs141867785 0.00092
NM_001378609.3(OTOGL):c.4280-5T>C rs200889330 0.00088
NM_001378609.3(OTOGL):c.2357T>C (p.Phe786Ser) rs192944055 0.00082
NM_001378609.3(OTOGL):c.3675G>C (p.Gln1225His) rs139375212 0.00079
NM_001378609.3(OTOGL):c.3742C>G (p.His1248Asp) rs201328043 0.00070
NM_001378609.3(OTOGL):c.1284T>A (p.Asp428Glu) rs202061419 0.00066
NM_001378609.3(OTOGL):c.2551G>A (p.Asp851Asn) rs112430701 0.00065
NM_001378609.3(OTOGL):c.1441+10T>A rs367996419 0.00059
NM_001378609.3(OTOGL):c.4322C>T (p.Ala1441Val) rs143101932 0.00059
NM_001378609.3(OTOGL):c.1981G>A (p.Val661Met) rs57587257 0.00057
NM_001378609.3(OTOGL):c.4976C>T (p.Ser1659Phe) rs181109105 0.00055
NM_001378609.3(OTOGL):c.6613G>T (p.Ala2205Ser) rs374634079 0.00051
NM_001378609.3(OTOGL):c.169-8T>C rs189897002 0.00050
NM_001378609.3(OTOGL):c.4603C>T (p.Arg1535Trp) rs370683806 0.00049
NM_001378609.3(OTOGL):c.4146C>A (p.Pro1382=) rs374853700 0.00045
NM_001378609.3(OTOGL):c.4279+12C>T rs200115208 0.00045
NM_001378609.3(OTOGL):c.2391-16C>A rs139336265 0.00044
NM_001378609.3(OTOGL):c.6019+5G>A rs368712763 0.00044
NM_001378609.3(OTOGL):c.1823G>A (p.Ser608Asn) rs202156673 0.00034
NM_001378609.3(OTOGL):c.2345C>T (p.Pro782Leu) rs200797401 0.00032
NM_001378609.3(OTOGL):c.4708A>G (p.Ile1570Val) rs374784341 0.00030
NM_001378609.3(OTOGL):c.708C>T (p.Asp236=) rs370298976 0.00030
NM_001378609.3(OTOGL):c.4518C>T (p.Asp1506=) rs187941815 0.00029
NM_001378609.3(OTOGL):c.1712-3C>A rs139232378 0.00027
NM_001378609.3(OTOGL):c.6616-19C>T rs144322810 0.00025
NM_001378609.3(OTOGL):c.6055C>A (p.His2019Asn) rs201869161 0.00023
NM_001378609.3(OTOGL):c.5069C>T (p.Pro1690Leu) rs185895624 0.00021
NM_001378609.3(OTOGL):c.3786C>G (p.Phe1262Leu) rs199807709 0.00019
NM_001378609.3(OTOGL):c.1111C>T (p.His371Tyr) rs78377084 0.00018
NM_001378609.3(OTOGL):c.1078C>T (p.Arg360Ter) rs368844341 0.00016
NM_001378609.3(OTOGL):c.4279+13G>A rs376435404 0.00014
NM_001378609.3(OTOGL):c.293A>G (p.Asp98Gly) rs374112948 0.00013
NM_001378609.3(OTOGL):c.100A>G (p.Ile34Val) rs117411391 0.00011
NM_001378609.3(OTOGL):c.5999G>A (p.Cys2000Tyr) rs770444727 0.00010
NM_001378609.3(OTOGL):c.1940G>A (p.Trp647Ter) rs377708973 0.00009
NM_001378609.3(OTOGL):c.236-2A>G rs766564988 0.00009
NM_001378609.3(OTOGL):c.1585C>T (p.Gln529Ter) rs371465450 0.00007
NM_001378609.3(OTOGL):c.4605G>A (p.Arg1535=) rs543306122 0.00007
NM_001378609.3(OTOGL):c.5702T>C (p.Ile1901Thr) rs775475186 0.00007
NM_001378609.3(OTOGL):c.6020-7A>G rs568908160 0.00007
NM_001378609.3(OTOGL):c.4861-3T>C rs769803656 0.00006
NM_001378609.3(OTOGL):c.6494C>A (p.Ser2165Ter) rs537664532 0.00006
NM_001378609.3(OTOGL):c.3184A>T (p.Ile1062Phe) rs188793584 0.00005
NM_001378609.3(OTOGL):c.975del (p.Leu325fs) rs766753922 0.00005
NM_001378609.3(OTOGL):c.63del (p.Leu22fs) rs376104832 0.00004
NM_001378609.3(OTOGL):c.2270T>C (p.Phe757Ser) rs532294251 0.00003
NM_001378609.3(OTOGL):c.2860C>T (p.Arg954Ter) rs572666403 0.00003
NM_001378609.3(OTOGL):c.4861-19T>C rs377343504 0.00003
NM_001378609.3(OTOGL):c.6122-8C>A rs373997499 0.00003
NM_001378609.3(OTOGL):c.3263A>G (p.Asp1088Gly) rs12422945 0.00002
NM_001378609.3(OTOGL):c.4234A>G (p.Met1412Val) rs774172292 0.00002
NM_001378609.3(OTOGL):c.5449C>T (p.Arg1817Ter) rs768620276 0.00002
NM_001378609.3(OTOGL):c.169-7T>A rs745520285 0.00001
NM_001378609.3(OTOGL):c.28A>G (p.Met10Val) rs1277996676 0.00001
NM_001378609.3(OTOGL):c.3277A>C (p.Asn1093His) rs867315415 0.00001
NM_001378609.3(OTOGL):c.4146_4147del (p.Cys1383fs) rs746782348 0.00001
NM_001378609.3(OTOGL):c.4199+1G>A rs1887509362 0.00001
NM_001378609.3(OTOGL):c.4209A>T (p.Gly1403=) rs747929635 0.00001
NM_001378609.3(OTOGL):c.4341del (p.Met1447fs) rs766971906 0.00001
NM_001378609.3(OTOGL):c.4543C>T (p.Arg1515Ter) rs758437499 0.00001
NM_001378609.3(OTOGL):c.5015G>A (p.Arg1672Gln) rs765255520 0.00001
NM_001378609.3(OTOGL):c.5743C>T (p.Arg1915Ter) rs1064796988 0.00001
NM_001378609.3(OTOGL):c.1350A>G (p.Leu450=) rs557104053
NM_001378609.3(OTOGL):c.335-9del rs754987281
NM_001378609.3(OTOGL):c.3521_3524del (p.Glu1174fs) rs779988517
NM_001378609.3(OTOGL):c.3760dup (p.Tyr1254fs) rs1064795124
NM_001378609.3(OTOGL):c.4199+5_4199+8del rs1887509535
NM_001378609.3(OTOGL):c.4347A>T (p.Thr1449=) rs779874163
NM_001378609.3(OTOGL):c.5729C>T (p.Thr1910Met) rs375155261
NM_001378609.3(OTOGL):c.5730G>T (p.Thr1910=) rs762557747
NM_001378609.3(OTOGL):c.6162_6163del (p.Ala2055fs) rs754134498
NM_001378609.3(OTOGL):c.6787C>T (p.Arg2263Ter)
NM_001378609.3(OTOGL):c.841_842del (p.Met281fs) rs876657658

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