ClinVar Miner

Variants in gene OTOG with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 57
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HGVS dbSNP gnomAD frequency
NM_001292063.2(OTOG):c.7867G>A (p.Asp2623Asn) rs183470913 0.00242
NM_001292063.2(OTOG):c.6074C>T (p.Ala2025Val) rs61736002 0.00229
NM_001292063.2(OTOG):c.6893G>A (p.Arg2298His) rs142799217 0.00211
NM_001292063.2(OTOG):c.7009G>C (p.Val2337Leu) rs540794663 0.00210
NM_001292063.2(OTOG):c.8476C>T (p.Arg2826Cys) rs191662816 0.00208
NM_001292063.2(OTOG):c.7510G>A (p.Ala2504Thr) rs548278514 0.00127
NM_001292063.2(OTOG):c.5252G>A (p.Arg1751His) rs185432248 0.00122
NM_001292063.2(OTOG):c.2868-3C>T rs565665118 0.00093
NM_001292063.2(OTOG):c.4835G>A (p.Arg1612His) rs189248390 0.00087
NM_001292063.2(OTOG):c.2657C>T (p.Thr886Met) rs113688475 0.00081
NM_001292063.2(OTOG):c.385G>A (p.Val129Met) rs552304627 0.00081
NM_001292063.2(OTOG):c.4012C>T (p.Arg1338Trp) rs61734125 0.00076
NM_001292063.2(OTOG):c.2249G>A (p.Arg750His) rs112634925 0.00071
NM_001292063.2(OTOG):c.3229A>G (p.Ile1077Val) rs56359117 0.00070
NM_001292063.2(OTOG):c.4641G>T (p.Glu1547Asp) rs764159927 0.00061
NM_001292063.2(OTOG):c.6521A>G (p.Asn2174Ser) rs368261417 0.00061
NM_001292063.2(OTOG):c.7324C>G (p.Leu2442Val) rs573071858 0.00061
NM_001292063.2(OTOG):c.1700G>A (p.Arg567Gln) rs142253169 0.00054
NM_001292063.2(OTOG):c.2405T>A (p.Leu802Gln) rs144972211 0.00053
NM_001292063.2(OTOG):c.6937C>T (p.Pro2313Ser) rs543999548 0.00051
NM_001292063.2(OTOG):c.7975G>A (p.Val2659Met) rs542442173 0.00051
NM_001292063.2(OTOG):c.335C>G (p.Ala112Gly) rs545257884 0.00048
NM_001292063.2(OTOG):c.4246C>T (p.Arg1416Trp) rs559512010 0.00048
NM_001292063.2(OTOG):c.94+75G>T rs550807341 0.00045
NM_001292063.2(OTOG):c.4021C>T (p.Arg1341Trp) rs200215464 0.00040
NM_001292063.2(OTOG):c.1984C>T (p.Pro662Ser) rs547173007 0.00033
NM_001292063.2(OTOG):c.7742C>T (p.Ala2581Val) rs114417076 0.00033
NM_001292063.2(OTOG):c.6536T>C (p.Val2179Ala) rs770039471 0.00029
NM_001292063.2(OTOG):c.2385G>T (p.Gly795=) rs564595203 0.00026
NM_001292063.2(OTOG):c.1840C>T (p.Arg614Trp) rs201183725 0.00025
NM_001292063.2(OTOG):c.2350A>C (p.Thr784Pro) rs778687487 0.00023
NM_001292063.2(OTOG):c.6092C>T (p.Thr2031Ile) rs545321215 0.00022
NM_001292063.2(OTOG):c.3751G>A (p.Gly1251Ser) rs769211682 0.00020
NM_001292063.2(OTOG):c.1184A>C (p.Gln395Pro) rs876657936 0.00019
NM_001292063.2(OTOG):c.93C>T (p.Leu31=) rs776961395 0.00018
NM_001292063.2(OTOG):c.2294-6C>T rs201721923 0.00016
NM_001292063.2(OTOG):c.371C>T (p.Pro124Leu) rs542646349 0.00016
NM_001292063.2(OTOG):c.2871G>A (p.Val957=) rs539784682 0.00015
NM_001292063.2(OTOG):c.883G>A (p.Val295Met) rs186310325 0.00013
NM_001292063.2(OTOG):c.3178C>T (p.His1060Tyr) rs187751015 0.00011
NM_001292063.2(OTOG):c.2294-7A>G rs200998174 0.00009
NM_001292063.2(OTOG):c.450A>G (p.Thr150=) rs779238030 0.00008
NM_001292063.2(OTOG):c.5813C>T (p.Thr1938Met) rs758489218 0.00006
NM_001292063.2(OTOG):c.6405C>T (p.Thr2135=) rs187255209 0.00006
NM_001292063.2(OTOG):c.5626C>T (p.Leu1876=) rs748088599 0.00005
NM_001292063.2(OTOG):c.937C>A (p.Pro313Thr) rs777809121 0.00005
NM_001292063.2(OTOG):c.7995C>T (p.Cys2665=) rs200809116 0.00003
NM_001292063.2(OTOG):c.3526-12G>C rs749205983 0.00002
NM_001292063.2(OTOG):c.3124G>T (p.Asp1042Tyr) rs973728066 0.00001
NM_001292063.2(OTOG):c.5303A>G (p.Glu1768Gly) rs876657555 0.00001
NM_001292063.2(OTOG):c.7268-7T>A rs911853347 0.00001
NM_001277269.2(OTOG):c.7517-5_7518dup rs1295062471
NM_001292063.2(OTOG):c.1042G>A (p.Ala348Thr) rs191354103
NM_001292063.2(OTOG):c.4102C>A (p.Arg1368=)
NM_001292063.2(OTOG):c.6179G>T (p.Arg2060Leu) rs188527711
NM_001292063.2(OTOG):c.6667G>A (p.Val2223Met) rs572886375
NM_001292063.2(OTOG):c.8036G>A (p.Arg2679His) rs766229978

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