ClinVar Miner

Variants in gene OTOF 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:

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
1790 258 0 94 124 0 15 219

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 10 0 0
likely pathogenic 20 0 7 0 0
uncertain significance 10 7 0 113 21
likely benign 0 0 113 0 74
benign 0 0 21 74 0

All variants with conflicting interpretations #

Total variants: 219
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_194248.3(OTOF):c.945G>A (p.Lys315=) rs41288779 0.07420
NM_194248.3(OTOF):c.5655C>T (p.Arg1885=) rs45442103 0.04497
NM_194248.3(OTOF):c.2829C>T (p.Gly943=) rs73920285 0.03958
NM_194248.3(OTOF):c.4677G>A (p.Val1559=) rs2272071 0.03875
NM_194248.3(OTOF):c.2703G>A (p.Ser901=) rs4997760 0.03814
NM_194248.3(OTOF):c.*372C>T rs56025829 0.03793
NM_194248.3(OTOF):c.509+10A>G rs76712142 0.03505
NM_194248.3(OTOF):c.2613C>T (p.Leu871=) rs2272068 0.03420
NM_194248.3(OTOF):c.2402A>T (p.Glu801Val) rs61739883 0.03338
NM_194248.3(OTOF):c.2401G>T (p.Glu801Ter) rs75624587 0.03330
NM_194248.3(OTOF):c.158C>T (p.Ala53Val) rs1879761 0.03226
NM_194248.3(OTOF):c.2022C>T (p.Asp674=) rs13004993 0.02894
NM_194248.3(OTOF):c.1926C>T (p.Asn642=) rs72853741 0.02727
NM_194248.3(OTOF):c.-120G>T rs114469860 0.02194
NM_194248.3(OTOF):c.3608A>G (p.Asn1203Ser) rs61740776 0.01584
NM_194248.3(OTOF):c.4767C>T (p.Arg1589=) rs80356578 0.01576
NM_194248.3(OTOF):c.3751T>G (p.Cys1251Gly) rs41288773 0.01560
NM_194248.3(OTOF):c.2317C>T (p.Arg773Cys) rs80356569 0.01549
NM_194248.3(OTOF):c.2464C>T (p.Arg822Trp) rs80356570 0.01518
NM_194248.3(OTOF):c.-67G>A rs13422586 0.01481
NM_194248.3(OTOF):c.4629-9C>T rs72853726 0.01237
NM_194248.3(OTOF):c.710+10C>T rs55639868 0.00890
NM_194248.3(OTOF):c.3470G>A (p.Arg1157Gln) rs56054534 0.00845
NM_194248.3(OTOF):c.2025G>A (p.Glu675=) rs61746988 0.00782
NM_194248.3(OTOF):c.98G>A (p.Arg33Gln) rs56332208 0.00731
NM_194248.3(OTOF):c.145C>T (p.Arg49Trp) rs61746568 0.00669
NM_194248.3(OTOF):c.1185C>T (p.Thr395=) rs61739877 0.00596
NM_194248.3(OTOF):c.3471G>T (p.Arg1157=) rs61742191 0.00446
NM_194248.3(OTOF):c.2215-19C>G rs111033427 0.00434
NM_194323.3(OTOF):c.3621G>A (p.Leu1207=) rs73920281 0.00417
NM_194248.3(OTOF):c.3076A>T (p.Arg1026Trp) rs145239283 0.00413
NM_194248.3(OTOF):c.4869C>T (p.Gly1623=) rs61744000 0.00412
NM_194248.3(OTOF):c.2215-77T>G rs76130130 0.00341
NM_194248.3(OTOF):c.1579+19G>A rs192297517 0.00313
NM_194248.3(OTOF):c.1580-6C>T rs114260271 0.00309
NM_194248.3(OTOF):c.42G>A (p.Arg14=) rs6734111 0.00308
NM_194248.3(OTOF):c.1580-7G>T rs116430138 0.00290
NM_194248.3(OTOF):c.2215-80T>C rs143141993 0.00259
NM_194248.3(OTOF):c.245G>A (p.Arg82His) rs149766574 0.00237
NM_194248.3(OTOF):c.37C>T (p.Leu13=) rs76180450 0.00203
NM_194248.3(OTOF):c.5742G>A (p.Leu1914=) rs141235641 0.00191
NM_194248.3(OTOF):c.4800-11C>T rs41286009 0.00186
NM_194248.3(OTOF):c.2375G>A (p.Arg792Gln) rs144800506 0.00170
NM_194248.3(OTOF):c.4980C>T (p.Asp1660=) rs149549554 0.00164
NM_194248.3(OTOF):c.2374C>T (p.Arg792Trp) rs148532589 0.00143
NM_194248.3(OTOF):c.367G>A (p.Gly123Ser) rs116314622 0.00134
NM_194248.3(OTOF):c.339C>T (p.Cys113=) rs139098225 0.00123
NM_194248.3(OTOF):c.2381G>A (p.Arg794His) rs80356592 0.00122
NM_194248.3(OTOF):c.3734-13T>C rs368329882 0.00113
NM_194248.3(OTOF):c.2123G>A (p.Arg708Gln) rs145019640 0.00098
NM_194248.3(OTOF):c.3917A>C (p.Lys1306Thr) rs62641623 0.00097
NM_194248.3(OTOF):c.3966C>G (p.Asp1322Glu) rs80356576 0.00096
NM_194248.3(OTOF):c.1530C>T (p.Ile510=) rs150452778 0.00093
NM_194248.3(OTOF):c.3384C>T (p.Pro1128=) rs145151677 0.00093
NM_194248.3(OTOF):c.1630C>T (p.Arg544Cys) rs139954767 0.00091
NM_194248.3(OTOF):c.5394C>T (p.Asp1798=) rs111033366 0.00091
NM_194248.3(OTOF):c.2908C>T (p.Arg970Cys) rs140613217 0.00081
NM_194248.3(OTOF):c.4463A>T (p.Asp1488Val) rs142284613 0.00081
NM_194248.3(OTOF):c.1910T>C (p.Ile637Thr) rs111033351 0.00076
NM_194248.3(OTOF):c.2215-155A>G rs143933877 0.00076
NM_194248.3(OTOF):c.2076G>T (p.Arg692=) rs138769870 0.00073
NM_194248.3(OTOF):c.3203G>A (p.Arg1068His) rs180748688 0.00064
NM_194248.3(OTOF):c.4216G>A (p.Asp1406Asn) rs111033352 0.00059
NM_194248.3(OTOF):c.2407-17C>T rs111706333 0.00055
NM_194248.3(OTOF):c.237G>A (p.Gly79=) rs117985483 0.00052
NM_194248.3(OTOF):c.1961G>A (p.Arg654Gln) rs184605839 0.00048
NM_194248.3(OTOF):c.4483C>A (p.Arg1495=) rs147321712 0.00048
NM_194248.3(OTOF):c.3706C>G (p.Arg1236Gly) rs199904558 0.00045
NM_194248.3(OTOF):c.5829C>T (p.Ser1943=) rs151005752 0.00044
NM_194248.3(OTOF):c.1317T>C (p.Asn439=) rs201171459 0.00042
NM_194248.3(OTOF):c.4435G>A (p.Gly1479Ser) rs145588516 0.00040
NM_194248.3(OTOF):c.4548C>T (p.Tyr1516=) rs139525746 0.00040
NM_194248.3(OTOF):c.4023+1G>A rs186810296 0.00039
NM_194248.3(OTOF):c.5991C>T (p.Ala1997=) rs150691499 0.00039
NM_194248.3(OTOF):c.3332C>T (p.Pro1111Leu) rs141972928 0.00038
NM_194248.3(OTOF):c.1640C>T (p.Thr547Met) rs200191563 0.00036
NM_194248.3(OTOF):c.5292-9C>T rs372713647 0.00036
NM_194248.3(OTOF):c.748C>T (p.Arg250Trp) rs373680242 0.00036
NM_194248.3(OTOF):c.2650G>A (p.Ala884Thr) rs144594692 0.00035
NM_194248.3(OTOF):c.898-6C>G rs199687628 0.00035
NM_194248.3(OTOF):c.157G>A (p.Ala53Thr) rs144915302 0.00032
NM_194248.3(OTOF):c.2507G>A (p.Arg836His) rs200670445 0.00031
NM_194248.3(OTOF):c.1135G>A (p.Val379Met) rs141111646 0.00029
NM_194248.3(OTOF):c.3939G>A (p.Ala1313=) rs149566576 0.00027
NM_194248.3(OTOF):c.154G>A (p.Val52Met) rs199992845 0.00026
NM_194248.3(OTOF):c.152C>T (p.Pro51Leu) rs150132765 0.00025
NM_194248.3(OTOF):c.2512C>T (p.Leu838=) rs146139327 0.00025
NM_194248.3(OTOF):c.1960C>T (p.Arg654Trp) rs144259658 0.00024
NM_194248.3(OTOF):c.3127-5G>A rs375186827 0.00022
NM_194248.3(OTOF):c.1424A>G (p.Glu475Gly) rs111033396 0.00021
NM_194248.3(OTOF):c.1506G>A (p.Ser502=) rs199713499 0.00019
NM_194248.3(OTOF):c.2498A>T (p.Gln833Leu) rs191568463 0.00019
NM_194248.3(OTOF):c.2848G>A (p.Val950Ile) rs199613764 0.00019
NM_194248.3(OTOF):c.327+10C>A rs377042002 0.00019
NM_194248.3(OTOF):c.5826G>A (p.Thr1942=) rs111033353 0.00019
NM_194248.3(OTOF):c.4454C>T (p.Pro1485Leu) rs200699092 0.00018
NM_194248.3(OTOF):c.4552G>A (p.Ala1518Thr) rs145556189 0.00018
NM_194248.3(OTOF):c.4642G>A (p.Glu1548Lys) rs146982209 0.00018
NM_194248.3(OTOF):c.4946T>C (p.Ile1649Thr) rs146618661 0.00018
NM_194248.3(OTOF):c.2180A>G (p.Asn727Ser) rs200654171 0.00016
NM_194248.3(OTOF):c.2590C>T (p.Arg864Cys) rs150070091 0.00016
NM_194248.3(OTOF):c.5196C>T (p.Tyr1732=) rs138681366 0.00016
NM_194248.3(OTOF):c.593C>T (p.Ala198Val) rs757909285 0.00016
NM_194248.3(OTOF):c.377G>A (p.Gly126Asp) rs187033414 0.00015
NM_194248.3(OTOF):c.5331C>T (p.Asp1777=) rs141082575 0.00015
NM_194248.3(OTOF):c.446C>T (p.Thr149Met) rs140454738 0.00014
NM_194248.3(OTOF):c.5814-7A>T rs375395837 0.00014
NM_194248.3(OTOF):c.5332G>T (p.Val1778Phe) rs111033330 0.00013
NM_194248.3(OTOF):c.2523+5G>A rs201745796 0.00012
NM_194248.3(OTOF):c.1194T>A (p.Asp398Glu) rs181805996 0.00011
NM_194248.3(OTOF):c.4363-6G>A rs199567872 0.00011
NM_194248.3(OTOF):c.1732G>C (p.Val578Leu) rs144907002 0.00010
NM_194248.3(OTOF):c.4951G>A (p.Asp1651Asn) rs139201321 0.00010
NM_194248.3(OTOF):c.337T>C (p.Cys113Arg) rs146615166 0.00009
NM_194248.3(OTOF):c.3746G>A (p.Arg1249Gln) rs200312028 0.00009
NM_194248.3(OTOF):c.4559G>A (p.Arg1520Gln) rs80356601 0.00009
NM_194248.3(OTOF):c.4820G>A (p.Arg1607Gln) rs141800430 0.00009
NM_194248.3(OTOF):c.5623G>A (p.Val1875Met) rs370691004 0.00008
NM_194248.3(OTOF):c.1105C>A (p.Leu369Met) rs377328873 0.00007
NM_194248.3(OTOF):c.1976C>T (p.Pro659Leu) rs201783245 0.00007
NM_194248.3(OTOF):c.2452C>T (p.Arg818Trp) rs2272070 0.00007
NM_194248.3(OTOF):c.2516C>T (p.Ala839Val) rs201246660 0.00007
NM_194248.3(OTOF):c.322A>G (p.Ile108Val) rs727505189 0.00007
NM_194248.3(OTOF):c.5985C>T (p.Leu1995=) rs200269526 0.00007
NM_194248.3(OTOF):c.843C>T (p.Asp281=) rs368728682 0.00007
NM_194248.3(OTOF):c.2359C>T (p.Arg787Cys) rs574277214 0.00006
NM_194248.3(OTOF):c.926C>T (p.Pro309Leu) rs574070900 0.00006
NM_194248.3(OTOF):c.1388A>G (p.Gln463Arg) rs553904559 0.00005
NM_194248.3(OTOF):c.2075G>A (p.Arg692Gln) rs147978393 0.00005
NM_194248.3(OTOF):c.2567A>T (p.Asn856Ile) rs752804141 0.00005
NM_194248.3(OTOF):c.2926G>A (p.Asp976Asn) rs148042715 0.00005
NM_194248.3(OTOF):c.3865-12G>A rs374902867 0.00005
NM_194248.3(OTOF):c.409G>A (p.Glu137Lys) rs576401026 0.00005
NM_194248.3(OTOF):c.40C>T (p.Arg14Trp) rs774530840 0.00005
NM_194248.3(OTOF):c.4417G>A (p.Gly1473Ser) rs371051158 0.00005
NM_194248.3(OTOF):c.5816G>A (p.Arg1939Gln) rs80356605 0.00005
NM_194248.3(OTOF):c.1198A>G (p.Ile400Val) rs369416370 0.00004
NM_194248.3(OTOF):c.149G>A (p.Trp50Ter) rs202086317 0.00004
NM_194248.3(OTOF):c.302T>C (p.Ile101Thr) rs754508360 0.00004
NM_194248.3(OTOF):c.327+16G>A rs201851221 0.00004
NM_194248.3(OTOF):c.3637G>A (p.Gly1213Ser) rs140023414 0.00004
NM_194248.3(OTOF):c.3707G>A (p.Arg1236His) rs368633281 0.00004
NM_194248.3(OTOF):c.4375G>A (p.Val1459Met) rs749384668 0.00004
NM_194248.3(OTOF):c.5566C>T (p.Arg1856Trp) rs368155547 0.00004
NM_194248.3(OTOF):c.1699G>A (p.Ala567Thr) rs771560305 0.00003
NM_194248.3(OTOF):c.1713G>A (p.Leu571=) rs397517935 0.00003
NM_194248.3(OTOF):c.2147G>A (p.Ser716Asn) rs147657016 0.00003
NM_194248.3(OTOF):c.2465G>A (p.Arg822Gln) rs373681505 0.00003
NM_194248.3(OTOF):c.4063G>A (p.Glu1355Lys) rs183309645 0.00003
NM_194248.3(OTOF):c.4186G>A (p.Glu1396Lys) rs745399096 0.00003
NM_194248.3(OTOF):c.4783G>A (p.Ala1595Thr) rs772763082 0.00003
NM_194248.3(OTOF):c.4922G>A (p.Arg1641His) rs200283244 0.00003
NM_194248.3(OTOF):c.4996T>C (p.Leu1666=) rs199854846 0.00003
NM_194248.3(OTOF):c.660G>A (p.Ser220=) rs745785393 0.00003
NM_194248.3(OTOF):c.3226T>C (p.Tyr1076His) rs150782952 0.00002
NM_194248.3(OTOF):c.3720C>T (p.Ser1240=) rs914180720 0.00002
NM_194248.3(OTOF):c.4718T>C (p.Ile1573Thr) rs111033405 0.00002
NM_194248.3(OTOF):c.4747C>T (p.Arg1583Cys) rs781688103 0.00002
NM_194248.3(OTOF):c.5553G>C (p.Leu1851=) rs747844017 0.00002
NM_194248.3(OTOF):c.5815C>T (p.Arg1939Trp) rs368790049 0.00002
NM_194248.3(OTOF):c.1045+2T>G rs111033341 0.00001
NM_194248.3(OTOF):c.222C>G (p.Ser74Arg) rs764474318 0.00001
NM_194248.3(OTOF):c.2457C>T (p.His819=) rs772678450 0.00001
NM_194248.3(OTOF):c.251T>C (p.Val84Ala) rs727505096 0.00001
NM_194248.3(OTOF):c.2521G>A (p.Glu841Lys) rs772729658 0.00001
NM_194248.3(OTOF):c.2629G>A (p.Glu877Lys) rs201726560 0.00001
NM_194248.3(OTOF):c.2690G>A (p.Arg897Gln) rs760896684 0.00001
NM_194248.3(OTOF):c.2972A>G (p.Asn991Ser) rs397517940 0.00001
NM_194248.3(OTOF):c.3220G>A (p.Glu1074Lys) rs768889857 0.00001
NM_194248.3(OTOF):c.3277G>A (p.Glu1093Lys) rs1064795233 0.00001
NM_194248.3(OTOF):c.3409-1G>C rs541334347 0.00001
NM_194248.3(OTOF):c.3641G>A (p.Arg1214His) rs751557477 0.00001
NM_194248.3(OTOF):c.3682C>T (p.Arg1228Cys) rs774452184 0.00001
NM_194248.3(OTOF):c.3864+1G>A rs758918226 0.00001
NM_194248.3(OTOF):c.4474G>A (p.Val1492Met) rs368297003 0.00001
NM_194248.3(OTOF):c.4748G>A (p.Arg1583His) rs139416718 0.00001
NM_194248.3(OTOF):c.4981G>A (p.Glu1661Lys) rs894098325 0.00001
NM_194248.3(OTOF):c.5374C>T (p.Arg1792Cys) rs142111099 0.00001
NM_194248.3(OTOF):c.5375G>A (p.Arg1792His) rs111033349 0.00001
NM_194248.3(OTOF):c.55C>T (p.Arg19Trp) rs727504985 0.00001
NM_194248.3(OTOF):c.5632G>A (p.Val1878Met) rs757360892 0.00001
NM_194248.3(OTOF):c.5712+6C>G rs200435099 0.00001
NM_194248.3(OTOF):c.691A>G (p.Thr231Ala) rs556493936 0.00001
NM_194323.3(OTOF):c.3514C>T (p.Arg1172Trp) rs530821443 0.00001
NM_194248.3(OTOF):c.1285C>T (p.Leu429=) rs776374276
NM_194248.3(OTOF):c.1469C>G (p.Pro490Arg) rs80356585
NM_194248.3(OTOF):c.1550T>C (p.Leu517Pro) rs1558490542
NM_194248.3(OTOF):c.1553G>T (p.Arg518Leu) rs150090360
NM_194248.3(OTOF):c.1803+7dup rs755835793
NM_194248.3(OTOF):c.1927G>T (p.Glu643Ter) rs200864338
NM_194248.3(OTOF):c.2089G>A (p.Asp697Asn) rs765669745
NM_194248.3(OTOF):c.2122C>T (p.Arg708Ter) rs80356590
NM_194248.3(OTOF):c.2215-1G>C rs1558486388
NM_194248.3(OTOF):c.2401_2402delinsTT (p.Glu801Leu) rs111033392
NM_194248.3(OTOF):c.2436G>A (p.Leu812=) rs2148051340
NM_194248.3(OTOF):c.2765G>T (p.Arg922Leu) rs148094939
NM_194248.3(OTOF):c.2891C>T (p.Ala964Val) rs201329629
NM_194248.3(OTOF):c.2962TTC[1] (p.Phe989del) rs1423777622
NM_194248.3(OTOF):c.32C>T (p.Ser11Leu) rs200972155
NM_194248.3(OTOF):c.3413T>C (p.Leu1138Pro) rs397515599
NM_194248.3(OTOF):c.481C>T (p.Arg161Trp) rs377378925
NM_194248.3(OTOF):c.4936C>A (p.Pro1646Thr) rs17005371
NM_194248.3(OTOF):c.4961-1G>A rs2148024902
NM_194248.3(OTOF):c.510-7del rs780497211
NM_194248.3(OTOF):c.5193-3del rs1664499681
NM_194248.3(OTOF):c.51C>T (p.Gly17=) rs142333075
NM_194248.3(OTOF):c.5407GAG[1] (p.Glu1804del) rs397515607
NM_194248.3(OTOF):c.5431A>T (p.Lys1811Ter) rs1487432642
NM_194248.3(OTOF):c.5466C>T (p.Tyr1822=) rs753580324
NM_194248.3(OTOF):c.5475C>A (p.Pro1825=) rs760178516
NM_194248.3(OTOF):c.5479C>A (p.Arg1827=) rs142748621
NM_194248.3(OTOF):c.5479C>T (p.Arg1827Trp) rs142748621
NM_194248.3(OTOF):c.5800dup (p.Leu1934fs) rs397515609
NM_194248.3(OTOF):c.5938G>T (p.Ala1980Ser) rs62640381
NM_194248.3(OTOF):c.5967C>T (p.Tyr1989=) rs1451195279
NM_194248.3(OTOF):c.718C>G (p.Pro240Ala) rs759273810
NM_194248.3(OTOF):c.828C>A (p.Cys276Ter) rs111033447
NM_194248.3(OTOF):c.839del (p.Gly280fs) rs1665944825
NM_194323.3(OTOF):c.3624del (p.Leu1209fs) rs727505359

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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.