ClinVar Miner

List of variants in gene OTOG reported as uncertain significance by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 250
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HGVS dbSNP gnomAD frequency
NM_001292063.2(OTOG):c.5252G>A (p.Arg1751His) rs185432248 0.00122
NM_001292063.2(OTOG):c.8125G>A (p.Asp2709Asn) rs189910531 0.00084
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.3229A>G (p.Ile1077Val) rs56359117 0.00070
NM_001292063.2(OTOG):c.397G>A (p.Gly133Ser) rs186893662 0.00070
NM_001292063.2(OTOG):c.8477G>A (p.Arg2826His) rs544815967 0.00056
NM_001292063.2(OTOG):c.2113A>G (p.Thr705Ala) rs562612507 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.4900C>A (p.Pro1634Thr) rs569097813 0.00043
NM_001292063.2(OTOG):c.4021C>T (p.Arg1341Trp) rs200215464 0.00040
NM_001292063.2(OTOG):c.5966C>G (p.Ala1989Gly) rs577901245 0.00038
NM_001292063.2(OTOG):c.8428G>A (p.Val2810Met) rs560697197 0.00036
NM_001292063.2(OTOG):c.6092C>T (p.Thr2031Ile) rs545321215 0.00035
NM_001292063.2(OTOG):c.5480C>T (p.Ser1827Phe) rs557079751 0.00032
NM_001292063.2(OTOG):c.5918C>T (p.Thr1973Met) rs868729716 0.00030
NM_001292063.2(OTOG):c.5432C>T (p.Ala1811Val) rs779658224 0.00029
NM_001292063.2(OTOG):c.7658G>C (p.Arg2553Pro) rs563003848 0.00026
NM_001292063.2(OTOG):c.292+4A>C rs535970426 0.00021
NM_001292063.2(OTOG):c.3335A>G (p.Asn1112Ser) rs571215839 0.00021
NM_001292063.2(OTOG):c.920C>T (p.Pro307Leu) rs755684934 0.00021
NM_001292063.2(OTOG):c.2263G>A (p.Val755Ile) rs138477595 0.00020
NM_001292063.2(OTOG):c.4631G>C (p.Gly1544Ala) rs1014717669 0.00019
NM_001292063.2(OTOG):c.7878C>G (p.Cys2626Trp) rs528655967 0.00019
NM_001292063.2(OTOG):c.1205G>A (p.Arg402Gln) rs753910841 0.00018
NM_001292063.2(OTOG):c.2294-6C>T rs201721923 0.00016
NM_001292063.2(OTOG):c.2947C>T (p.Arg983Cys) rs556631973 0.00016
NM_001292063.2(OTOG):c.8327G>A (p.Arg2776His) rs558314848 0.00016
NM_001292063.2(OTOG):c.4204G>A (p.Asp1402Asn) rs934642427 0.00015
NM_001292063.2(OTOG):c.8633G>A (p.Arg2878His) rs375127426 0.00015
NM_001292063.2(OTOG):c.8651G>A (p.Arg2884Gln) rs751320465 0.00015
NM_001292063.2(OTOG):c.3359T>C (p.Leu1120Pro) rs757588809 0.00014
NM_001292063.2(OTOG):c.5681C>T (p.Thr1894Met) rs759042084 0.00014
NM_001292063.2(OTOG):c.6296G>A (p.Arg2099Gln) rs757628662 0.00014
NM_001292063.2(OTOG):c.7159C>T (p.Pro2387Ser) rs780716158 0.00014
NM_001292063.2(OTOG):c.2948G>A (p.Arg983His) rs759044507 0.00013
NM_001292063.2(OTOG):c.550G>A (p.Asp184Asn) rs748075389 0.00013
NM_001292063.2(OTOG):c.6130G>A (p.Ala2044Thr) rs750356823 0.00013
NM_001292063.2(OTOG):c.352C>T (p.Arg118Cys) rs527900760 0.00012
NM_001292063.2(OTOG):c.7057C>T (p.Arg2353Cys) rs184461956 0.00011
NM_001292063.2(OTOG):c.7232G>A (p.Arg2411His) rs771337626 0.00011
NM_001292063.2(OTOG):c.7468G>C (p.Gly2490Arg) rs775563146 0.00011
NM_001292063.2(OTOG):c.4612G>A (p.Ala1538Thr) rs756067622 0.00010
NM_001292063.2(OTOG):c.286C>G (p.Pro96Ala) rs567428169 0.00009
NM_001292063.2(OTOG):c.3203C>T (p.Thr1068Ile) rs914932265 0.00009
NM_001292063.2(OTOG):c.7054C>T (p.Arg2352Trp) rs756364973 0.00009
NM_001292063.2(OTOG):c.8252C>T (p.Ser2751Phe) rs201728749 0.00009
NM_001292063.2(OTOG):c.13G>A (p.Ala5Thr) rs533327958 0.00008
NM_001292063.2(OTOG):c.3265G>A (p.Val1089Ile) rs528406185 0.00008
NM_001292063.2(OTOG):c.680T>C (p.Met227Thr) rs756107368 0.00008
NM_001292063.2(OTOG):c.4820C>T (p.Ser1607Leu) rs867891665 0.00007
NM_001292063.2(OTOG):c.1546C>T (p.Arg516Cys) rs755375116 0.00006
NM_001292063.2(OTOG):c.5380C>T (p.Arg1794Cys) rs1246889104 0.00006
NM_001292063.2(OTOG):c.5813C>T (p.Thr1938Met) rs758489218 0.00006
NM_001292063.2(OTOG):c.8206C>T (p.His2736Tyr) rs752900573 0.00006
NM_001292063.2(OTOG):c.6148C>T (p.Arg2050Cys) rs758044497 0.00005
NM_001292063.2(OTOG):c.8119G>A (p.Val2707Met) rs566656846 0.00005
NM_001292063.2(OTOG):c.937C>A (p.Pro313Thr) rs777809121 0.00005
NM_001292063.2(OTOG):c.1175G>A (p.Arg392Gln) rs755321990 0.00004
NM_001292063.2(OTOG):c.2080G>A (p.Ala694Thr) rs757854202 0.00004
NM_001292063.2(OTOG):c.2713G>A (p.Val905Met) rs767006121 0.00004
NM_001292063.2(OTOG):c.3262C>T (p.His1088Tyr) rs1367217080 0.00004
NM_001292063.2(OTOG):c.4588C>G (p.Leu1530Val) rs766929865 0.00004
NM_001292063.2(OTOG):c.6217C>T (p.Pro2073Ser) rs752786692 0.00004
NM_001292063.2(OTOG):c.7809C>G (p.Phe2603Leu) rs1213755361 0.00004
NM_001292063.2(OTOG):c.7916C>T (p.Pro2639Leu) rs538911042 0.00004
NM_001292063.2(OTOG):c.8653C>T (p.Arg2885Cys) rs185641221 0.00004
NM_001292063.2(OTOG):c.1295G>A (p.Cys432Tyr) rs1432190265 0.00003
NM_001292063.2(OTOG):c.2036T>C (p.Val679Ala) rs1182616691 0.00003
NM_001292063.2(OTOG):c.3665G>A (p.Arg1222Gln) rs574498870 0.00003
NM_001292063.2(OTOG):c.6845G>A (p.Arg2282His) rs867257104 0.00003
NM_001292063.2(OTOG):c.725G>A (p.Arg242Gln) rs765587052 0.00003
NM_001292063.2(OTOG):c.1826C>T (p.Thr609Met) rs149486088 0.00002
NM_001292063.2(OTOG):c.2402A>G (p.Asp801Gly) rs185940730 0.00002
NM_001292063.2(OTOG):c.2525C>A (p.Pro842His) rs560987450 0.00002
NM_001292063.2(OTOG):c.3438G>A (p.Met1146Ile) rs767774116 0.00002
NM_001292063.2(OTOG):c.5759C>A (p.Pro1920His) rs1191107652 0.00002
NM_001292063.2(OTOG):c.6168C>T (p.Gly2056=) rs1421610135 0.00002
NM_001292063.2(OTOG):c.8520T>A (p.Asn2840Lys) rs754033112 0.00002
NM_001292063.2(OTOG):c.1312G>A (p.Ala438Thr) rs1290666415 0.00001
NM_001292063.2(OTOG):c.1750T>A (p.Tyr584Asn) rs557473818 0.00001
NM_001292063.2(OTOG):c.2030C>T (p.Pro677Leu) rs1182393340 0.00001
NM_001292063.2(OTOG):c.2192G>A (p.Arg731His) rs763745890 0.00001
NM_001292063.2(OTOG):c.3109C>T (p.Leu1037Phe) rs866755719 0.00001
NM_001292063.2(OTOG):c.3361G>C (p.Glu1121Gln) rs1275721235 0.00001
NM_001292063.2(OTOG):c.3424G>A (p.Asp1142Asn) rs1013694969 0.00001
NM_001292063.2(OTOG):c.3966G>T (p.Trp1322Cys) rs1853374229 0.00001
NM_001292063.2(OTOG):c.4147C>T (p.Arg1383Cys) rs566689671 0.00001
NM_001292063.2(OTOG):c.4403C>T (p.Thr1468Ile) rs575174022 0.00001
NM_001292063.2(OTOG):c.4823C>T (p.Pro1608Leu) rs1853489884 0.00001
NM_001292063.2(OTOG):c.5303A>G (p.Glu1768Gly) rs876657555 0.00001
NM_001292063.2(OTOG):c.5653T>C (p.Ser1885Pro) rs923743309 0.00001
NM_001292063.2(OTOG):c.5758C>T (p.Pro1920Ser) rs1446581241 0.00001
NM_001292063.2(OTOG):c.6127A>G (p.Ile2043Val) rs765128079 0.00001
NM_001292063.2(OTOG):c.6224G>A (p.Arg2075His) rs925550621 0.00001
NM_001292063.2(OTOG):c.6251G>A (p.Arg2084Gln) rs1395557172 0.00001
NM_001292063.2(OTOG):c.6334G>A (p.Asp2112Asn) rs1314382019 0.00001
NM_001292063.2(OTOG):c.6535G>A (p.Val2179Met) rs1287695716 0.00001
NM_001292063.2(OTOG):c.6711C>T (p.Cys2237=) rs562749083 0.00001
NM_001292063.2(OTOG):c.6713G>A (p.Gly2238Asp) rs528937385 0.00001
NM_001292063.2(OTOG):c.698A>G (p.Gln233Arg) rs905156944 0.00001
NM_001292063.2(OTOG):c.6997G>A (p.Val2333Met) rs188832359 0.00001
NM_001292063.2(OTOG):c.7121G>A (p.Cys2374Tyr) rs1017790030 0.00001
NM_001292063.2(OTOG):c.7168C>T (p.Pro2390Ser) rs1029912817 0.00001
NM_001292063.2(OTOG):c.7423G>C (p.Gly2475Arg) rs771765463 0.00001
NM_001292063.2(OTOG):c.7826A>T (p.Gln2609Leu) rs926666774 0.00001
NM_001292063.2(OTOG):c.8084C>A (p.Ala2695Glu) rs1043470591 0.00001
NM_001292063.2(OTOG):c.854T>C (p.Val285Ala) rs756351208 0.00001
NM_001292063.2(OTOG):c.94+51G>A rs764004379 0.00001
NM_001292063.2(OTOG):c.94+54A>G rs1253663735 0.00001
NM_001292063.2(OTOG):c.1000G>A (p.Val334Met) rs553254322
NM_001292063.2(OTOG):c.1012T>C (p.Cys338Arg)
NM_001292063.2(OTOG):c.1028G>A (p.Arg343Gln)
NM_001292063.2(OTOG):c.1143G>A (p.Ala381=)
NM_001292063.2(OTOG):c.1144G>C (p.Glu382Gln)
NM_001292063.2(OTOG):c.1178C>G (p.Pro393Arg)
NM_001292063.2(OTOG):c.1228_1230del (p.Glu410del) rs1238249987
NM_001292063.2(OTOG):c.1454C>T (p.Thr485Ile)
NM_001292063.2(OTOG):c.1468A>C (p.Lys490Gln)
NM_001292063.2(OTOG):c.1522A>G (p.Ile508Val) rs2134011205
NM_001292063.2(OTOG):c.1658C>A (p.Ala553Asp) rs1176349136
NM_001292063.2(OTOG):c.1663G>A (p.Val555Ile)
NM_001292063.2(OTOG):c.1723G>T (p.Ala575Ser) rs1266983964
NM_001292063.2(OTOG):c.1763C>G (p.Pro588Arg)
NM_001292063.2(OTOG):c.1837G>A (p.Val613Met)
NM_001292063.2(OTOG):c.1837G>T (p.Val613Leu)
NM_001292063.2(OTOG):c.2062G>A (p.Asp688Asn)
NM_001292063.2(OTOG):c.2084C>T (p.Ser695Phe) rs1430140899
NM_001292063.2(OTOG):c.209G>A (p.Gly70Glu)
NM_001292063.2(OTOG):c.2107G>A (p.Val703Met)
NM_001292063.2(OTOG):c.215A>G (p.Gln72Arg)
NM_001292063.2(OTOG):c.2191C>T (p.Arg731Cys)
NM_001292063.2(OTOG):c.2197G>C (p.Gly733Arg)
NM_001292063.2(OTOG):c.2215G>A (p.Ala739Thr)
NM_001292063.2(OTOG):c.2278C>T (p.Arg760Cys)
NM_001292063.2(OTOG):c.2398G>C (p.Asp800His)
NM_001292063.2(OTOG):c.2486+6T>A rs2134030088
NM_001292063.2(OTOG):c.2486G>A (p.Arg829Gln)
NM_001292063.2(OTOG):c.2605+9G>A
NM_001292063.2(OTOG):c.2647G>A (p.Asp883Asn)
NM_001292063.2(OTOG):c.2711G>A (p.Ser904Asn) rs2134036310
NM_001292063.2(OTOG):c.2904C>A (p.His968Gln)
NM_001292063.2(OTOG):c.291C>T (p.Ser97=)
NM_001292063.2(OTOG):c.293-3C>A
NM_001292063.2(OTOG):c.2966C>T (p.Pro989Leu) rs192108740
NM_001292063.2(OTOG):c.2977G>A (p.Val993Met)
NM_001292063.2(OTOG):c.3079A>G (p.Lys1027Glu)
NM_001292063.2(OTOG):c.3143G>A (p.Ser1048Asn)
NM_001292063.2(OTOG):c.3188G>T (p.Arg1063Leu) rs11024333
NM_001292063.2(OTOG):c.3289G>A (p.Gly1097Ser)
NM_001292063.2(OTOG):c.330C>A (p.His110Gln)
NM_001292063.2(OTOG):c.3359T>G (p.Leu1120Arg) rs757588809
NM_001292063.2(OTOG):c.3458G>C (p.Arg1153Pro)
NM_001292063.2(OTOG):c.3493C>T (p.Leu1165Phe)
NM_001292063.2(OTOG):c.353G>A (p.Arg118His)
NM_001292063.2(OTOG):c.3598T>A (p.Cys1200Ser)
NM_001292063.2(OTOG):c.3613G>A (p.Val1205Ile)
NM_001292063.2(OTOG):c.3667A>G (p.Thr1223Ala)
NM_001292063.2(OTOG):c.3760C>G (p.Leu1254Val)
NM_001292063.2(OTOG):c.3776C>T (p.Ala1259Val)
NM_001292063.2(OTOG):c.3874C>T (p.His1292Tyr)
NM_001292063.2(OTOG):c.3877G>C (p.Asp1293His)
NM_001292063.2(OTOG):c.3931G>T (p.Val1311Phe)
NM_001292063.2(OTOG):c.3938C>A (p.Ala1313Asp)
NM_001292063.2(OTOG):c.4130G>A (p.Arg1377His)
NM_001292063.2(OTOG):c.4181A>T (p.Tyr1394Phe)
NM_001292063.2(OTOG):c.430G>A (p.Gly144Arg)
NM_001292063.2(OTOG):c.4374G>T (p.Trp1458Cys)
NM_001292063.2(OTOG):c.4375G>A (p.Val1459Ile)
NM_001292063.2(OTOG):c.4403C>A (p.Thr1468Asn) rs575174022
NM_001292063.2(OTOG):c.4630G>A (p.Gly1544Ser)
NM_001292063.2(OTOG):c.4763C>T (p.Thr1588Ile)
NM_001292063.2(OTOG):c.4834C>T (p.Arg1612Cys) rs546247260
NM_001292063.2(OTOG):c.4939C>A (p.Pro1647Thr)
NM_001292063.2(OTOG):c.505C>T (p.Arg169Cys)
NM_001292063.2(OTOG):c.50C>T (p.Pro17Leu)
NM_001292063.2(OTOG):c.5132C>G (p.Pro1711Arg) rs374434360
NM_001292063.2(OTOG):c.521_523del (p.Gly174_Gln175delinsGlu)
NM_001292063.2(OTOG):c.5362A>G (p.Met1788Val)
NM_001292063.2(OTOG):c.5378C>T (p.Thr1793Ile) rs1317364318
NM_001292063.2(OTOG):c.5477C>T (p.Ala1826Val) rs1246080530
NM_001292063.2(OTOG):c.5584C>A (p.Pro1862Thr)
NM_001292063.2(OTOG):c.5818C>T (p.His1940Tyr)
NM_001292063.2(OTOG):c.5848G>A (p.Glu1950Lys)
NM_001292063.2(OTOG):c.587G>C (p.Arg196Thr) rs983961694
NM_001292063.2(OTOG):c.600CTT[1] (p.Phe202del) rs753906203
NM_001292063.2(OTOG):c.6035G>A (p.Gly2012Glu) rs2134092984
NM_001292063.2(OTOG):c.6038G>A (p.Arg2013His)
NM_001292063.2(OTOG):c.6104A>G (p.Asn2035Ser)
NM_001292063.2(OTOG):c.6178C>T (p.Arg2060Cys)
NM_001292063.2(OTOG):c.6179G>A (p.Arg2060His) rs188527711
NM_001292063.2(OTOG):c.6179G>T (p.Arg2060Leu) rs188527711
NM_001292063.2(OTOG):c.6256G>A (p.Gly2086Ser) rs1380873439
NM_001292063.2(OTOG):c.6266G>A (p.Arg2089His)
NM_001292063.2(OTOG):c.6286T>C (p.Cys2096Arg) rs1424850080
NM_001292063.2(OTOG):c.6287G>A (p.Cys2096Tyr)
NM_001292063.2(OTOG):c.6295C>T (p.Arg2099Trp)
NM_001292063.2(OTOG):c.6424A>G (p.Lys2142Glu)
NM_001292063.2(OTOG):c.6453G>T (p.Trp2151Cys)
NM_001292063.2(OTOG):c.6458C>T (p.Pro2153Leu)
NM_001292063.2(OTOG):c.6529G>A (p.Val2177Met)
NM_001292063.2(OTOG):c.6563T>C (p.Val2188Ala)
NM_001292063.2(OTOG):c.6659T>A (p.Leu2220His)
NM_001292063.2(OTOG):c.6661_6666del (p.Met2221_Ile2222del)
NM_001292063.2(OTOG):c.6667G>A (p.Val2223Met) rs572886375
NM_001292063.2(OTOG):c.670C>G (p.Pro224Ala)
NM_001292063.2(OTOG):c.6712+6G>A
NM_001292063.2(OTOG):c.6851G>A (p.Arg2284His)
NM_001292063.2(OTOG):c.6905A>G (p.Asn2302Ser) rs1485663504
NM_001292063.2(OTOG):c.6928C>A (p.Arg2310Ser) rs896254817
NM_001292063.2(OTOG):c.6983T>C (p.Val2328Ala)
NM_001292063.2(OTOG):c.6991C>T (p.Pro2331Ser)
NM_001292063.2(OTOG):c.7015G>C (p.Val2339Leu)
NM_001292063.2(OTOG):c.7053G>C (p.Trp2351Cys)
NM_001292063.2(OTOG):c.7072C>G (p.Pro2358Ala) rs1216988583
NM_001292063.2(OTOG):c.7075T>G (p.Phe2359Val)
NM_001292063.2(OTOG):c.70G>A (p.Glu24Lys)
NM_001292063.2(OTOG):c.7243C>T (p.Leu2415Phe)
NM_001292063.2(OTOG):c.7247G>A (p.Cys2416Tyr)
NM_001292063.2(OTOG):c.7367T>A (p.Ile2456Asn)
NM_001292063.2(OTOG):c.7486A>G (p.Asn2496Asp)
NM_001292063.2(OTOG):c.7522C>A (p.Arg2508Ser) rs1430372915
NM_001292063.2(OTOG):c.7532A>G (p.His2511Arg)
NM_001292063.2(OTOG):c.7537C>T (p.Leu2513Phe)
NM_001292063.2(OTOG):c.755A>T (p.Asp252Val) rs2134004261
NM_001292063.2(OTOG):c.7612G>C (p.Glu2538Gln)
NM_001292063.2(OTOG):c.7766C>T (p.Thr2589Met)
NM_001292063.2(OTOG):c.7898G>A (p.Cys2633Tyr)
NM_001292063.2(OTOG):c.7924C>T (p.Arg2642Trp)
NM_001292063.2(OTOG):c.8018_8019delinsAT (p.Ala2673Asp) rs876657945
NM_001292063.2(OTOG):c.8036G>A (p.Arg2679His) rs766229978
NM_001292063.2(OTOG):c.8036G>T (p.Arg2679Leu) rs766229978
NM_001292063.2(OTOG):c.8092G>A (p.Val2698Met)
NM_001292063.2(OTOG):c.8107C>T (p.Arg2703Cys)
NM_001292063.2(OTOG):c.8155ACC[3] (p.Thr2720dup) rs749534085
NM_001292063.2(OTOG):c.8164G>A (p.Val2722Met)
NM_001292063.2(OTOG):c.8177T>C (p.Ile2726Thr)
NM_001292063.2(OTOG):c.8189C>A (p.Ala2730Glu)
NM_001292063.2(OTOG):c.8210C>T (p.Pro2737Leu)
NM_001292063.2(OTOG):c.8221G>A (p.Ala2741Thr)
NM_001292063.2(OTOG):c.8246A>G (p.Asn2749Ser)
NM_001292063.2(OTOG):c.8387C>A (p.Pro2796Gln)
NM_001292063.2(OTOG):c.8492TGACCATCCGCA[1] (p.Met2835_Arg2838del)
NM_001292063.2(OTOG):c.8562T>G (p.Asp2854Glu)
NM_001292063.2(OTOG):c.8650C>T (p.Arg2884Trp)
NM_001292063.2(OTOG):c.8723G>C (p.Cys2908Ser)
NM_001292063.2(OTOG):c.916_917delinsAA (p.Ala306Asn) rs2134005761
NM_001292063.2(OTOG):c.94+75G>A
NM_001292063.2(OTOG):c.959G>A (p.Arg320His)

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