ClinVar Miner

List of variants in gene OTOG reported as likely benign by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Gene type:
ClinVar version:
Total variants: 111
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HGVS dbSNP gnomAD frequency
NM_001292063.2(OTOG):c.8168T>C (p.Leu2723Pro) rs180703235 0.00643
NM_001292063.2(OTOG):c.2098G>A (p.Ala700Thr) rs113745835 0.00467
NM_001292063.2(OTOG):c.639G>T (p.Glu213Asp) rs61736015 0.00315
NM_001292063.2(OTOG):c.7631G>A (p.Arg2544Gln) rs76461792 0.00308
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.4238G>A (p.Arg1413Gln) rs143848095 0.00260
NM_001292063.2(OTOG):c.899A>G (p.His300Arg) rs189159426 0.00243
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.5345T>C (p.Leu1782Pro) rs61744602 0.00187
NM_001292063.2(OTOG):c.1285C>T (p.Arg429Trp) rs199968574 0.00166
NM_001292063.2(OTOG):c.7353A>C (p.Gln2451His) rs145833172 0.00134
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.2561+9C>T rs528157125 0.00119
NM_001292063.2(OTOG):c.6907C>T (p.Arg2303Cys) rs568549806 0.00109
NM_001292063.2(OTOG):c.6012C>T (p.Asp2004=) rs61734252 0.00103
NM_001292063.2(OTOG):c.1286G>A (p.Arg429Gln) rs528799547 0.00100
NM_001292063.2(OTOG):c.4835G>A (p.Arg1612His) rs189248390 0.00087
NM_001292063.2(OTOG):c.6827C>T (p.Thr2276Ile) rs569603083 0.00078
NM_001292063.2(OTOG):c.4012C>T (p.Arg1338Trp) rs61734125 0.00076
NM_001292063.2(OTOG):c.3006+11G>A rs150247729 0.00072
NM_001292063.2(OTOG):c.3229A>G (p.Ile1077Val) rs56359117 0.00070
NM_001292063.2(OTOG):c.4627G>A (p.Ala1543Thr) rs545740473 0.00067
NM_001292063.2(OTOG):c.879C>T (p.Asp293=) rs144220847 0.00063
NM_001292063.2(OTOG):c.6521A>G (p.Asn2174Ser) rs368261417 0.00061
NM_001292063.2(OTOG):c.8646G>A (p.Leu2882=) rs542151771 0.00058
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.4246C>T (p.Arg1416Trp) rs559512010 0.00048
NM_001292063.2(OTOG):c.7209C>T (p.Ser2403=) rs56236649 0.00048
NM_001292063.2(OTOG):c.8322C>T (p.Cys2774=) rs539684481 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.7866C>T (p.Pro2622=) rs200566292 0.00036
NM_001292063.2(OTOG):c.1623G>A (p.Leu541=) rs755383141 0.00035
NM_001292063.2(OTOG):c.6092C>T (p.Thr2031Ile) rs545321215 0.00035
NM_001292063.2(OTOG):c.4002C>T (p.Phe1334=) rs545896255 0.00032
NM_001292063.2(OTOG):c.1806C>T (p.Ser602=) rs536715287 0.00031
NM_001292063.2(OTOG):c.8022G>A (p.Pro2674=) rs753850661 0.00027
NM_001292063.2(OTOG):c.7380T>A (p.Asp2460Glu) rs532385451 0.00026
NM_001292063.2(OTOG):c.4866C>T (p.Val1622=) rs780581249 0.00019
NM_001292063.2(OTOG):c.7461C>T (p.Cys2487=) rs530992812 0.00019
NM_001292063.2(OTOG):c.7693+13C>T rs773422239 0.00017
NM_001292063.2(OTOG):c.2294-6C>T rs201721923 0.00016
NM_001292063.2(OTOG):c.2562-14G>A rs550895099 0.00016
NM_001292063.2(OTOG):c.371C>T (p.Pro124Leu) rs542646349 0.00016
NM_001292063.2(OTOG):c.3819G>A (p.Ala1273=) rs750862882 0.00016
NM_001292063.2(OTOG):c.540+8C>T rs1027600196 0.00016
NM_001292063.2(OTOG):c.6006G>A (p.Pro2002=) rs554657199 0.00016
NM_001292063.2(OTOG):c.5051C>T (p.Pro1684Leu) rs553479177 0.00014
NM_001292063.2(OTOG):c.7542C>G (p.Leu2514=) rs752641698 0.00013
NM_001292063.2(OTOG):c.8004C>T (p.Tyr2668=) rs892246727 0.00013
NM_001292063.2(OTOG):c.7959G>A (p.Glu2653=) rs762613093 0.00012
NM_001292063.2(OTOG):c.783G>T (p.Met261Ile) rs118083195 0.00011
NM_001292063.2(OTOG):c.2486+7G>A rs774905533 0.00010
NM_001292063.2(OTOG):c.3017A>T (p.Asp1006Val) rs551850126 0.00010
NM_001292063.2(OTOG):c.4826C>T (p.Pro1609Leu) rs937557181 0.00009
NM_001292063.2(OTOG):c.4896G>A (p.Thr1632=) rs143785785 0.00009
NM_001292063.2(OTOG):c.7585+11C>T rs369343034 0.00009
NM_001292063.2(OTOG):c.7693+11G>A rs976807214 0.00009
NM_001292063.2(OTOG):c.3264C>T (p.His1088=) rs776482697 0.00007
NM_001292063.2(OTOG):c.3360A>G (p.Leu1120=) rs779322374 0.00006
NM_001292063.2(OTOG):c.5813C>T (p.Thr1938Met) rs758489218 0.00006
NM_001292063.2(OTOG):c.8220C>T (p.Leu2740=) rs749120808 0.00006
NM_001292063.2(OTOG):c.5467G>A (p.Gly1823Ser) rs539129544 0.00005
NM_001292063.2(OTOG):c.937C>A (p.Pro313Thr) rs777809121 0.00005
NM_001292063.2(OTOG):c.1343-8C>T rs876657551 0.00004
NM_001292063.2(OTOG):c.1641C>T (p.Gly547=) rs535620249 0.00004
NM_001292063.2(OTOG):c.7890C>T (p.Ser2630=) rs555614943 0.00004
NM_001292063.2(OTOG):c.8472T>C (p.Asp2824=) rs940623349 0.00004
NM_001292063.2(OTOG):c.292+15C>T rs876657554 0.00003
NM_001292063.2(OTOG):c.4170G>A (p.Ser1390=) rs765085598 0.00003
NM_001292063.2(OTOG):c.6219C>T (p.Pro2073=) rs876657557 0.00003
NM_001292063.2(OTOG):c.7995C>T (p.Cys2665=) rs200809116 0.00003
NM_001292063.2(OTOG):c.8571C>T (p.Cys2857=) rs1166068398 0.00003
NM_001292063.2(OTOG):c.1125C>G (p.Thr375=) rs897534989 0.00001
NM_001292063.2(OTOG):c.2625C>G (p.Gly875=) rs876657552 0.00001
NM_001292063.2(OTOG):c.3078G>A (p.Arg1026=) rs1244694943 0.00001
NM_001292063.2(OTOG):c.3177C>T (p.Val1059=) rs184126223 0.00001
NM_001292063.2(OTOG):c.3183A>C (p.Thr1061=) rs780180476 0.00001
NM_001292063.2(OTOG):c.3398C>T (p.Ala1133Val) rs768393908 0.00001
NM_001292063.2(OTOG):c.4247G>A (p.Arg1416Gln) rs147318012 0.00001
NM_001292063.2(OTOG):c.5303A>G (p.Glu1768Gly) rs876657555 0.00001
NM_001292063.2(OTOG):c.5979G>A (p.Ser1993=) rs925237259 0.00001
NM_001292063.2(OTOG):c.7048G>A (p.Glu2350Lys) rs375080152 0.00001
NM_001292063.2(OTOG):c.7422C>T (p.Phe2474=) rs983539027 0.00001
NM_001292063.2(OTOG):c.7617G>T (p.Leu2539=) rs908026995 0.00001
NM_001292063.2(OTOG):c.7767G>A (p.Thr2589=) rs748617558 0.00001
NM_001292063.2(OTOG):c.7846C>T (p.Leu2616=) rs876657558 0.00001
NM_001292063.2(OTOG):c.8247C>T (p.Asn2749=) rs778915475 0.00001
NM_001292063.2(OTOG):c.8287C>T (p.Leu2763=) rs1406354520 0.00001
NM_001292063.2(OTOG):c.1024C>T (p.Leu342=) rs876657550
NM_001292063.2(OTOG):c.1042G>A (p.Ala348Thr) rs191354103
NM_001292063.2(OTOG):c.1455A>G (p.Thr485=) rs1554968896
NM_001292063.2(OTOG):c.1563C>G (p.Pro521=) rs749836896
NM_001292063.2(OTOG):c.16T>C (p.Ser6Pro) rs773298682
NM_001292063.2(OTOG):c.2387T>C (p.Val796Ala) rs1554970485
NM_001292063.2(OTOG):c.2487-5dup rs562652501
NM_001292063.2(OTOG):c.2832C>T (p.Phe944=) rs876657553
NM_001292063.2(OTOG):c.3939C>T (p.Ala1313=) rs1554974304
NM_001292063.2(OTOG):c.395C>T (p.Ala132Val) rs766172178
NM_001292063.2(OTOG):c.459G>T (p.Gly153=) rs1554967816
NM_001292063.2(OTOG):c.4821G>A (p.Ser1607=) rs369768224
NM_001292063.2(OTOG):c.5220A>C (p.Pro1740=) rs959286824
NM_001292063.2(OTOG):c.527G>C (p.Ser176Thr) rs876657556
NM_001292063.2(OTOG):c.6667G>A (p.Val2223Met) rs572886375
NM_001292063.2(OTOG):c.7722C>A (p.Pro2574=) rs1260956852
NM_001292063.2(OTOG):c.8036G>A (p.Arg2679His) rs766229978
NM_001292063.2(OTOG):c.8298C>A (p.Pro2766=) rs569159135

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