ClinVar Miner

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

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 50
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HGVS dbSNP gnomAD frequency
NM_001292063.2(OTOG):c.2512G>C (p.Gly838Arg) rs61734214 0.00925
NM_001292063.2(OTOG):c.1797G>A (p.Arg599=) rs73418068 0.00690
NM_001292063.2(OTOG):c.8168T>C (p.Leu2723Pro) rs180703235 0.00643
NM_001292063.2(OTOG):c.3351G>A (p.Pro1117=) rs146781877 0.00639
NM_001292063.2(OTOG):c.8542-8C>T rs182750732 0.00565
NM_001292063.2(OTOG):c.8416-16G>A rs146753764 0.00537
NM_001292063.2(OTOG):c.2098G>A (p.Ala700Thr) rs113745835 0.00467
NM_001292063.2(OTOG):c.7045A>G (p.Ile2349Val) rs191722806 0.00457
NM_001292063.2(OTOG):c.3525+10C>A rs113275496 0.00451
NM_001292063.2(OTOG):c.8035C>T (p.Arg2679Cys) rs567966154 0.00428
NM_001292063.2(OTOG):c.2967G>A (p.Pro989=) rs11024331 0.00392
NM_001292063.2(OTOG):c.3683C>T (p.Pro1228Leu) rs117005078 0.00338
NM_001292063.2(OTOG):c.639G>T (p.Glu213Asp) rs61736015 0.00315
NM_001292063.2(OTOG):c.843G>A (p.Lys281=) rs570688276 0.00312
NM_001292063.2(OTOG):c.7585+12G>A rs538124093 0.00291
NM_001292063.2(OTOG):c.1213+14A>C rs143302987 0.00290
NM_001292063.2(OTOG):c.2398G>A (p.Asp800Asn) rs141010212 0.00287
NM_001292063.2(OTOG):c.4238G>A (p.Arg1413Gln) rs143848095 0.00260
NM_001292063.2(OTOG):c.1104-4A>C rs149163390 0.00257
NM_001292063.2(OTOG):c.4022G>A (p.Arg1341Gln) rs145689709 0.00242
NM_001292063.2(OTOG):c.7867G>A (p.Asp2623Asn) rs183470913 0.00242
NM_001292063.2(OTOG):c.1340A>G (p.Asn447Ser) rs115772736 0.00238
NM_001292063.2(OTOG):c.1397T>G (p.Phe466Cys) rs147355325 0.00232
NM_001292063.2(OTOG):c.6074C>T (p.Ala2025Val) rs61736002 0.00229
NM_001292063.2(OTOG):c.5694A>G (p.Val1898=) rs573436885 0.00223
NM_001292063.2(OTOG):c.6893G>A (p.Arg2298His) rs142799217 0.00211
NM_001292063.2(OTOG):c.5549C>G (p.Pro1850Arg) rs376684690 0.00210
NM_001292063.2(OTOG):c.7009G>C (p.Val2337Leu) rs540794663 0.00210
NM_001292063.2(OTOG):c.7693+14A>T rs545542156 0.00210
NM_001292063.2(OTOG):c.8476C>T (p.Arg2826Cys) rs191662816 0.00208
NM_001292063.2(OTOG):c.7650C>T (p.Ile2550=) rs187445787 0.00200
NM_001292063.2(OTOG):c.8369G>A (p.Arg2790His) rs117315845 0.00188
NM_001292063.2(OTOG):c.311A>G (p.Asn104Ser) rs534942001 0.00140
NM_001292063.2(OTOG):c.6012C>T (p.Asp2004=) rs61734252 0.00103
NM_001292063.2(OTOG):c.3006+11G>A rs150247729 0.00072
NM_001292063.2(OTOG):c.7254G>A (p.Pro2418=) rs556820669 0.00072
NM_001292063.2(OTOG):c.4627G>A (p.Ala1543Thr) rs545740473 0.00067
NM_001292063.2(OTOG):c.426G>A (p.Ala142=) rs548971081 0.00066
NM_001292063.2(OTOG):c.8646G>A (p.Leu2882=) rs542151771 0.00058
NM_001292063.2(OTOG):c.516C>T (p.Pro172=) rs149868055 0.00055
NM_001292063.2(OTOG):c.1050C>T (p.His350=) rs575344158 0.00053
NM_001292063.2(OTOG):c.7935+11G>A rs188456860 0.00050
NM_001292063.2(OTOG):c.94+75G>T rs550807341 0.00045
NM_001292063.2(OTOG):c.4002C>T (p.Phe1334=) rs545896255 0.00032
NM_001292063.2(OTOG):c.2214C>T (p.Cys738=) rs529043916 0.00024
NM_001292063.2(OTOG):c.5919G>A (p.Thr1973=) rs570611759 0.00014
NM_001292063.2(OTOG):c.8472T>C (p.Asp2824=) rs940623349 0.00004
NM_001292063.2(OTOG):c.5052C>T (p.Pro1684=) rs559123807 0.00001
NM_001292063.2(OTOG):c.2723G>T (p.Arg908Leu) rs144060182
NM_001292063.2(OTOG):c.5856C>T (p.Ala1952=)

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