ClinVar Miner

List of variants in gene OTOGL reported as uncertain significance by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 123
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HGVS dbSNP gnomAD frequency
NM_001378609.3(OTOGL):c.3488A>G (p.Asp1163Gly) rs202085918 0.00195
NM_001378609.3(OTOGL):c.6968G>A (p.Arg2323Gln) rs143495342 0.00168
NM_001378609.3(OTOGL):c.2456C>T (p.Ser819Leu) rs199855270 0.00126
NM_001378609.3(OTOGL):c.917C>T (p.Pro306Leu) rs200050988 0.00121
NM_001378609.3(OTOGL):c.6229T>G (p.Cys2077Gly) rs145929269 0.00110
NM_001378609.3(OTOGL):c.1815G>T (p.Gln605His) rs192234924 0.00101
NM_001378609.3(OTOGL):c.2357T>C (p.Phe786Ser) rs192944055 0.00088
NM_001378609.3(OTOGL):c.3675G>C (p.Gln1225His) rs139375212 0.00079
NM_001378609.3(OTOGL):c.1284T>A (p.Asp428Glu) rs202061419 0.00074
NM_001378609.3(OTOGL):c.2551G>A (p.Asp851Asn) rs112430701 0.00072
NM_001378609.3(OTOGL):c.3172A>G (p.Arg1058Gly) rs201186191 0.00068
NM_001378609.3(OTOGL):c.3742C>G (p.His1248Asp) rs201328043 0.00068
NM_001378609.3(OTOGL):c.4322C>T (p.Ala1441Val) rs143101932 0.00063
NM_001378609.3(OTOGL):c.169-8T>C rs189897002 0.00055
NM_001378609.3(OTOGL):c.4976C>T (p.Ser1659Phe) rs181109105 0.00055
NM_001378609.3(OTOGL):c.6613G>T (p.Ala2205Ser) rs374634079 0.00051
NM_001378609.3(OTOGL):c.3911A>T (p.His1304Leu) rs187723280 0.00047
NM_001378609.3(OTOGL):c.475C>T (p.Arg159Trp) rs191608225 0.00041
NM_001378609.3(OTOGL):c.283G>A (p.Gly95Arg) rs201264433 0.00032
NM_001378609.3(OTOGL):c.3566A>G (p.Gln1189Arg) rs200392453 0.00029
NM_001378609.3(OTOGL):c.4568G>A (p.Ser1523Asn) rs200404819 0.00029
NM_001378609.3(OTOGL):c.6864A>G (p.Ile2288Met) rs145876584 0.00029
NM_001378609.3(OTOGL):c.2345C>T (p.Pro782Leu) rs200797401 0.00024
NM_001378609.3(OTOGL):c.1823G>A (p.Ser608Asn) rs202156673 0.00019
NM_001378609.3(OTOGL):c.3786C>G (p.Phe1262Leu) rs199807709 0.00019
NM_001378609.3(OTOGL):c.3913C>T (p.Arg1305Trp) rs557947188 0.00016
NM_001378609.3(OTOGL):c.6691T>A (p.Tyr2231Asn) rs199811430 0.00016
NM_001378609.3(OTOGL):c.95C>T (p.Ser32Leu) rs760011677 0.00016
NM_001378609.3(OTOGL):c.1561A>G (p.Thr521Ala) rs187504761 0.00015
NM_001378609.3(OTOGL):c.34C>A (p.Pro12Thr) rs539100194 0.00015
NM_001378609.3(OTOGL):c.1111C>T (p.His371Tyr) rs78377084 0.00014
NM_001378609.3(OTOGL):c.2303C>T (p.Pro768Leu) rs540809976 0.00014
NM_001378609.3(OTOGL):c.6926G>A (p.Ser2309Asn) rs149242532 0.00013
NM_001378609.3(OTOGL):c.5273C>T (p.Pro1758Leu) rs372958953 0.00012
NM_001378609.3(OTOGL):c.100A>G (p.Ile34Val) rs117411391 0.00011
NM_001378609.3(OTOGL):c.3457G>A (p.Val1153Ile) rs200467965 0.00009
NM_001378609.3(OTOGL):c.5702T>C (p.Ile1901Thr) rs775475186 0.00009
NM_001378609.3(OTOGL):c.6521A>G (p.Tyr2174Cys) rs201222095 0.00009
NM_001378609.3(OTOGL):c.4795T>C (p.Cys1599Arg) rs778681002 0.00008
NM_001378609.3(OTOGL):c.5816C>T (p.Thr1939Met) rs371201947 0.00008
NM_001378609.3(OTOGL):c.4136G>A (p.Cys1379Tyr) rs180943308 0.00007
NM_001378609.3(OTOGL):c.1198A>T (p.Ile400Phe) rs780388672 0.00006
NM_001378609.3(OTOGL):c.3184A>T (p.Ile1062Phe) rs188793584 0.00005
NM_001378609.3(OTOGL):c.3914G>A (p.Arg1305Gln) rs369089877 0.00005
NM_001378609.3(OTOGL):c.1021T>C (p.Tyr341His) rs573760702 0.00004
NM_001378609.3(OTOGL):c.2986G>A (p.Asp996Asn) rs148362257 0.00004
NM_001378609.3(OTOGL):c.4274G>A (p.Arg1425Gln) rs374659070 0.00004
NM_001378609.3(OTOGL):c.6122-8C>A rs373997499 0.00004
NM_001378609.3(OTOGL):c.2860C>T (p.Arg954Ter) rs572666403 0.00003
NM_001378609.3(OTOGL):c.3934C>T (p.His1312Tyr) rs534031917 0.00003
NM_001378609.3(OTOGL):c.4746T>A (p.Asn1582Lys) rs910949216 0.00003
NM_001378609.3(OTOGL):c.2936A>G (p.Asp979Gly) rs990572792 0.00002
NM_001378609.3(OTOGL):c.3263A>G (p.Asp1088Gly) rs12422945 0.00002
NM_001378609.3(OTOGL):c.4234A>G (p.Met1412Val) rs774172292 0.00002
NM_001378609.3(OTOGL):c.4544G>A (p.Arg1515Gln) rs201232946 0.00002
NM_001378609.3(OTOGL):c.535C>T (p.Arg179Trp) rs374355344 0.00002
NM_001378609.3(OTOGL):c.5701A>G (p.Ile1901Val) rs771173954 0.00002
NM_001378609.3(OTOGL):c.809T>A (p.Ile270Asn) rs371086474 0.00002
NM_001378609.3(OTOGL):c.2267C>T (p.Ser756Leu) rs781524697 0.00001
NM_001378609.3(OTOGL):c.2369C>A (p.Thr790Asn) rs569965067 0.00001
NM_001378609.3(OTOGL):c.2930G>T (p.Ser977Ile) rs1195961302 0.00001
NM_001378609.3(OTOGL):c.3277A>C (p.Asn1093His) rs867315415 0.00001
NM_001378609.3(OTOGL):c.3376C>A (p.Gln1126Lys) rs876657947 0.00001
NM_001378609.3(OTOGL):c.3649C>T (p.Pro1217Ser) rs1398207365 0.00001
NM_001378609.3(OTOGL):c.4209A>T (p.Gly1403=) rs747929635 0.00001
NM_001378609.3(OTOGL):c.4231A>T (p.Asn1411Tyr) rs770438244 0.00001
NM_001378609.3(OTOGL):c.4438C>T (p.Pro1480Ser) rs527599306 0.00001
NM_001378609.3(OTOGL):c.4654G>A (p.Ala1552Thr) rs142647924 0.00001
NM_001378609.3(OTOGL):c.512T>G (p.Leu171Arg) rs775176500 0.00001
NM_001378609.3(OTOGL):c.6824C>T (p.Ser2275Leu) rs568423929 0.00001
NM_001378609.3(OTOGL):c.743A>C (p.Asp248Ala) rs759988695 0.00001
NM_001378609.3(OTOGL):c.1187A>G (p.His396Arg)
NM_001378609.3(OTOGL):c.1291G>A (p.Val431Ile)
NM_001378609.3(OTOGL):c.1304G>A (p.Gly435Glu)
NM_001378609.3(OTOGL):c.1402G>T (p.Val468Phe) rs750128612
NM_001378609.3(OTOGL):c.1478C>G (p.Thr493Ser)
NM_001378609.3(OTOGL):c.1712-3C>A
NM_001378609.3(OTOGL):c.1878G>C (p.Arg626Ser)
NM_001378609.3(OTOGL):c.1882G>A (p.Asp628Asn)
NM_001378609.3(OTOGL):c.1892C>G (p.Ser631Cys) rs373638514
NM_001378609.3(OTOGL):c.1930G>A (p.Ala644Thr)
NM_001378609.3(OTOGL):c.2237A>T (p.Gln746Leu)
NM_001378609.3(OTOGL):c.2270T>C (p.Phe757Ser)
NM_001378609.3(OTOGL):c.236-3C>T
NM_001378609.3(OTOGL):c.2401C>T (p.Arg801Cys)
NM_001378609.3(OTOGL):c.2468A>T (p.Gln823Leu)
NM_001378609.3(OTOGL):c.2624T>A (p.Met875Lys)
NM_001378609.3(OTOGL):c.2759G>A (p.Gly920Glu)
NM_001378609.3(OTOGL):c.2761G>A (p.Glu921Lys)
NM_001378609.3(OTOGL):c.2801G>A (p.Arg934Gln)
NM_001378609.3(OTOGL):c.2984A>G (p.Asn995Ser)
NM_001378609.3(OTOGL):c.3194A>G (p.Lys1065Arg)
NM_001378609.3(OTOGL):c.3214-15_3214-13delinsC rs2137751838
NM_001378609.3(OTOGL):c.3514G>A (p.Asp1172Asn)
NM_001378609.3(OTOGL):c.3533C>G (p.Thr1178Ser)
NM_001378609.3(OTOGL):c.3607+4A>G
NM_001378609.3(OTOGL):c.3802+6T>C
NM_001378609.3(OTOGL):c.3889T>C (p.Trp1297Arg)
NM_001378609.3(OTOGL):c.3962G>A (p.Ser1321Asn)
NM_001378609.3(OTOGL):c.4402A>G (p.Thr1468Ala) rs1064796400
NM_001378609.3(OTOGL):c.4679A>G (p.Tyr1560Cys) rs2137913941
NM_001378609.3(OTOGL):c.5015G>A (p.Arg1672Gln)
NM_001378609.3(OTOGL):c.5182C>A (p.Pro1728Thr)
NM_001378609.3(OTOGL):c.5369T>C (p.Phe1790Ser) rs2138001917
NM_001378609.3(OTOGL):c.5429A>G (p.Lys1810Arg) rs755871184
NM_001378609.3(OTOGL):c.5453C>A (p.Pro1818His)
NM_001378609.3(OTOGL):c.5729C>T (p.Thr1910Met) rs375155261
NM_001378609.3(OTOGL):c.5761A>G (p.Met1921Val)
NM_001378609.3(OTOGL):c.5846G>A (p.Cys1949Tyr)
NM_001378609.3(OTOGL):c.6135C>A (p.Asn2045Lys)
NM_001378609.3(OTOGL):c.6290A>G (p.His2097Arg)
NM_001378609.3(OTOGL):c.6337G>A (p.Asp2113Asn) rs2138078230
NM_001378609.3(OTOGL):c.6424A>G (p.Ile2142Val)
NM_001378609.3(OTOGL):c.6448A>G (p.Asn2150Asp)
NM_001378609.3(OTOGL):c.6475T>C (p.Phe2159Leu)
NM_001378609.3(OTOGL):c.6484G>A (p.Val2162Met)
NM_001378609.3(OTOGL):c.6503G>A (p.Cys2168Tyr)
NM_001378609.3(OTOGL):c.663C>A (p.Asp221Glu)
NM_001378609.3(OTOGL):c.6777G>T (p.Lys2259Asn) rs553056652
NM_001378609.3(OTOGL):c.6788G>T (p.Arg2263Leu) rs759534300
NM_001378609.3(OTOGL):c.6835A>G (p.Lys2279Glu)
NM_001378609.3(OTOGL):c.79+5G>A rs1477091831
NM_001378609.3(OTOGL):c.949A>G (p.Ile317Val) rs748705456

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