ClinVar Miner

Variants in gene OTOF 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:
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
462 60 10 44 23 2 7 77

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 association
pathogenic 10 2 5 1 0 2
likely pathogenic 2 0 2 0 0 0
uncertain significance 5 2 0 20 7 0
likely benign 1 0 20 0 42 0
benign 0 0 7 42 0 0
association 2 0 0 0 0 0

All variants with conflicting interpretations #

Total variants: 77
Download table as spreadsheet
HGVS dbSNP
NM_194248.2(OTOF):c.4227+1G>T rs397515601
NM_194248.2(OTOF):c.5098G>C rs199766465
NM_194248.3(OTOF):c.1185C>T (p.Thr395=) rs61739877
NM_194248.3(OTOF):c.1194T>A (p.Asp398Glu) rs181805996
NM_194248.3(OTOF):c.1236del (p.Glu413fs) rs397515581
NM_194248.3(OTOF):c.1317T>C (p.Asn439=) rs201171459
NM_194248.3(OTOF):c.1424A>G (p.Glu475Gly) rs111033396
NM_194248.3(OTOF):c.1506G>A (p.Ser502=) rs199713499
NM_194248.3(OTOF):c.1530C>T (p.Ile510=) rs150452778
NM_194248.3(OTOF):c.1544T>C (p.Ile515Thr) rs80356586
NM_194248.3(OTOF):c.1926C>T (p.Asn642=) rs72853741
NM_194248.3(OTOF):c.2022C>T (p.Asp674=) rs13004993
NM_194248.3(OTOF):c.2025G>A (p.Glu675=) rs61746988
NM_194248.3(OTOF):c.2122C>T (p.Arg708Ter) rs80356590
NM_194248.3(OTOF):c.2123G>A (p.Arg708Gln) rs145019640
NM_194248.3(OTOF):c.2215-155A>G rs143933877
NM_194248.3(OTOF):c.2215-19C>G rs111033427
NM_194248.3(OTOF):c.2215-77T>G rs76130130
NM_194248.3(OTOF):c.2215-80T>C rs143141993
NM_194248.3(OTOF):c.2239G>T (p.Glu747Ter) rs397515591
NM_194248.3(OTOF):c.2317C>T (p.Arg773Cys) rs80356569
NM_194248.3(OTOF):c.2359C>T (p.Arg787Cys) rs574277214
NM_194248.3(OTOF):c.2375G>A (p.Arg792Gln) rs144800506
NM_194248.3(OTOF):c.2381G>A (p.Arg794His) rs80356592
NM_194248.3(OTOF):c.2401_2402delinsTT (p.Glu801Leu) rs111033392
NM_194248.3(OTOF):c.245G>A (p.Arg82His) rs149766574
NM_194248.3(OTOF):c.2464C>T (p.Arg822Trp) rs80356570
NM_194248.3(OTOF):c.2485C>T (p.Gln829Ter) rs80356593
NM_194248.3(OTOF):c.2512C>T (p.Leu838=) rs146139327
NM_194248.3(OTOF):c.2848G>A (p.Val950Ile) rs199613764
NM_194248.3(OTOF):c.2908C>T (p.Arg970Cys) rs140613217
NM_194248.3(OTOF):c.3032T>C (p.Leu1011Pro) rs80356596
NM_194248.3(OTOF):c.3189G>A (p.Ala1063=) rs80356573
NM_194248.3(OTOF):c.3247G>C (p.Ala1083Pro) rs80356574
NM_194248.3(OTOF):c.327+5G>T rs370643920
NM_194248.3(OTOF):c.3277G>A (p.Glu1093Lys) rs1064795233
NM_194248.3(OTOF):c.3384C>T (p.Pro1128=) rs145151677
NM_194248.3(OTOF):c.3470G>A (p.Arg1157Gln) rs56054534
NM_194248.3(OTOF):c.3471G>T (p.Arg1157=) rs61742191
NM_194248.3(OTOF):c.366C>T (p.Asp122=) rs61747283
NM_194248.3(OTOF):c.367G>A (p.Gly123Ser) rs116314622
NM_194248.3(OTOF):c.3734-10A>C rs73920284
NM_194248.3(OTOF):c.3751T>G (p.Cys1251Gly) rs41288773
NM_194248.3(OTOF):c.3939G>A (p.Ala1313=) rs149566576
NM_194248.3(OTOF):c.3966C>G (p.Asp1322Glu) rs80356576
NM_194248.3(OTOF):c.4023+1G>A rs186810296
NM_194248.3(OTOF):c.42G>A (p.Arg14=) rs6734111
NM_194248.3(OTOF):c.4332C>T (p.Thr1444=) rs149236286
NM_194248.3(OTOF):c.446C>T (p.Thr149Met) rs140454738
NM_194248.3(OTOF):c.4483C>A (p.Arg1495=) rs147321712
NM_194248.3(OTOF):c.4491T>A (p.Tyr1497Ter) rs80356600
NM_194248.3(OTOF):c.4548C>T (p.Tyr1516=) rs139525746
NM_194248.3(OTOF):c.4559G>A (p.Arg1520Gln) rs80356601
NM_194248.3(OTOF):c.4677G>A (p.Val1559=) rs2272071
NM_194248.3(OTOF):c.4767C>T (p.Arg1589=) rs80356578
NM_194248.3(OTOF):c.4869C>T (p.Gly1623=) rs61744000
NM_194248.3(OTOF):c.4960+1G>C rs80356602
NM_194248.3(OTOF):c.4980C>T (p.Asp1660=) rs149549554
NM_194248.3(OTOF):c.4996T>C (p.Leu1666=) rs199854846
NM_194248.3(OTOF):c.5026C>T (p.Arg1676Cys) rs139767460
NM_194248.3(OTOF):c.5039G>A (p.Arg1680His) rs11893228
NM_194248.3(OTOF):c.505C>T (p.Arg169Trp) rs61744348
NM_194248.3(OTOF):c.5063C>T (p.Thr1688Met) rs111033393
NM_194248.3(OTOF):c.51C>T (p.Gly17=) rs142333075
NM_194248.3(OTOF):c.5292-9C>T rs372713647
NM_194248.3(OTOF):c.5375G>A (p.Arg1792His) rs111033349
NM_194248.3(OTOF):c.5394C>T (p.Asp1798=) rs111033366
NM_194248.3(OTOF):c.5473C>G (p.Pro1825Ala) rs28937591
NM_194248.3(OTOF):c.5558G>A (p.Arg1853Gln) rs111033329
NM_194248.3(OTOF):c.5655C>T (p.Arg1885=) rs45442103
NM_194248.3(OTOF):c.5742G>A (p.Leu1914=) rs141235641
NM_194248.3(OTOF):c.578G>T (p.Arg193Ile) rs139779680
NM_194248.3(OTOF):c.5816G>A (p.Arg1939Gln) rs80356605
NM_194248.3(OTOF):c.710+10C>T rs55639868
NM_194248.3(OTOF):c.766-2A>G rs80356584
NM_194248.3(OTOF):c.945G>A (p.Lys315=) rs41288779
NM_194248.3(OTOF):c.98G>A (p.Arg33Gln) rs56332208

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.