ClinVar Miner

List of variants in gene OTOG reported by Athena Diagnostics Inc

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 41
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001292063.2(OTOG):c.237C>T (p.Ser79=) rs11823045 0.09978
NM_001292063.2(OTOG):c.3299C>T (p.Ala1100Val) rs7936324 0.04354
NM_001292063.2(OTOG):c.3350C>T (p.Pro1117Leu) rs7936354 0.04257
NM_001292063.2(OTOG):c.1158G>A (p.Ala386=) rs61731248 0.03769
NM_001292063.2(OTOG):c.7062T>C (p.Ser2354=) rs7114549 0.03608
NM_001292063.2(OTOG):c.7400G>A (p.Arg2467His) rs61743165 0.03602
NM_001292063.2(OTOG):c.7535G>A (p.Arg2512His) rs114242958 0.03332
NM_001292063.2(OTOG):c.688G>A (p.Ala230Thr) rs61910753 0.02905
NM_001292063.2(OTOG):c.769G>A (p.Val257Ile) rs61978648 0.02169
NM_001292063.2(OTOG):c.2274C>T (p.Arg758=) rs16934404 0.02154
NM_001292063.2(OTOG):c.106G>A (p.Val36Ile) rs77311172 0.01897
NM_001292063.2(OTOG):c.8490G>C (p.Lys2830Asn) rs61997203 0.01716
NM_001292063.2(OTOG):c.144C>G (p.Ala48=) rs58448442 0.01699
NM_001292063.2(OTOG):c.7330G>A (p.Gly2444Ser) rs61745322 0.01656
NM_001292063.2(OTOG):c.292+10A>T rs141597314 0.01457
NM_001292063.2(OTOG):c.2739G>A (p.Ser913=) rs55881341 0.01235
NM_001292063.2(OTOG):c.94+37G>A rs111425080 0.01215
NM_001292063.2(OTOG):c.3096C>T (p.Asn1032=) rs75133799 0.00891
NM_001292063.2(OTOG):c.4606C>T (p.Leu1536Phe) rs117380920 0.00806
NM_001292063.2(OTOG):c.996+9C>A rs147843540 0.00730
NM_001292063.2(OTOG):c.5235C>A (p.Leu1745=) rs193083374 0.00701
NM_001292063.2(OTOG):c.1797G>A (p.Arg599=) rs73418068 0.00690
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.7825C>A (p.Gln2609Lys) rs61995750 0.00485
NM_001292063.2(OTOG):c.2098G>A (p.Ala700Thr) rs113745835 0.00467
NM_001292063.2(OTOG):c.8035C>T (p.Arg2679Cys) rs567966154 0.00428
NM_001292063.2(OTOG):c.3683C>T (p.Pro1228Leu) rs117005078 0.00338
NM_001292063.2(OTOG):c.4238G>A (p.Arg1413Gln) rs143848095 0.00260
NM_001292063.2(OTOG):c.6074C>T (p.Ala2025Val) rs61736002 0.00229
NM_001292063.2(OTOG):c.3618C>T (p.Ser1206=) rs143393149 0.00179
NM_001292063.2(OTOG):c.4641G>T (p.Glu1547Asp) rs764159927 0.00061
NM_001292063.2(OTOG):c.8646G>A (p.Leu2882=) rs542151771 0.00058
NM_001292063.2(OTOG):c.5432C>T (p.Ala1811Val) rs779658224 0.00029
NM_001292063.2(OTOG):c.365C>T (p.Thr122Ile) rs1403454339 0.00001
NM_001292063.2(OTOG):c.5052C>T (p.Pro1684=) rs559123807 0.00001
NM_001292063.2(OTOG):c.1042G>A (p.Ala348Thr) rs191354103
NM_001292063.2(OTOG):c.3289-8C>G rs12792504
NM_001292063.2(OTOG):c.3409-2A>G rs934194113
NM_001292063.2(OTOG):c.4166C>T (p.Pro1389Leu)
NM_001292063.2(OTOG):c.499del (p.Val167fs) rs876657657

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.