ClinVar Miner

List of variants in gene OTOGL reported as uncertain significance by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 102
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HGVS dbSNP gnomAD frequency
NM_001378609.3(OTOGL):c.1990C>T (p.Pro664Ser) rs76420383 0.00136
NM_001378609.3(OTOGL):c.1284T>A (p.Asp428Glu) rs202061419 0.00074
NM_001378609.3(OTOGL):c.3742C>G (p.His1248Asp) rs201328043 0.00068
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.124G>A (p.Gly42Arg) rs149117887 0.00049
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.6864A>G (p.Ile2288Met) rs145876584 0.00029
NM_001378609.3(OTOGL):c.6691T>A (p.Tyr2231Asn) rs199811430 0.00016
NM_001378609.3(OTOGL):c.34C>A (p.Pro12Thr) rs539100194 0.00015
NM_001378609.3(OTOGL):c.5648G>A (p.Gly1883Asp) rs377364362 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.214T>C (p.Trp72Arg) rs369473810 0.00010
NM_001378609.3(OTOGL):c.2791G>A (p.Val931Ile) rs368000272 0.00009
NM_001378609.3(OTOGL):c.3557A>G (p.Lys1186Arg) rs377496807 0.00009
NM_001378609.3(OTOGL):c.1189C>T (p.Arg397Trp) rs201300161 0.00008
NM_001378609.3(OTOGL):c.4795T>C (p.Cys1599Arg) rs778681002 0.00008
NM_001378609.3(OTOGL):c.3434C>T (p.Ala1145Val) rs374368341 0.00006
NM_001378609.3(OTOGL):c.1021T>C (p.Tyr341His) rs573760702 0.00004
NM_001378609.3(OTOGL):c.1262T>C (p.Leu421Pro) rs778574643 0.00004
NM_001378609.3(OTOGL):c.3361C>T (p.Pro1121Ser) rs768918570 0.00004
NM_001378609.3(OTOGL):c.6901A>G (p.Thr2301Ala) rs778901457 0.00004
NM_001378609.3(OTOGL):c.3653A>G (p.Tyr1218Cys) rs763389475 0.00003
NM_001378609.3(OTOGL):c.3934C>T (p.His1312Tyr) rs534031917 0.00003
NM_001378609.3(OTOGL):c.2369C>A (p.Thr790Asn) rs569965067 0.00001
NM_001378609.3(OTOGL):c.4231A>T (p.Asn1411Tyr) rs770438244 0.00001
NM_001378609.3(OTOGL):c.454G>T (p.Asp152Tyr) rs1399912212 0.00001
NM_001378609.3(OTOGL):c.1094A>T (p.Tyr365Phe)
NM_001378609.3(OTOGL):c.1139G>A (p.Arg380Lys)
NM_001378609.3(OTOGL):c.1150C>G (p.Pro384Ala)
NM_001378609.3(OTOGL):c.1156T>C (p.Cys386Arg)
NM_001378609.3(OTOGL):c.115T>C (p.Ser39Pro)
NM_001378609.3(OTOGL):c.1187A>G (p.His396Arg)
NM_001378609.3(OTOGL):c.1433A>G (p.Asp478Gly)
NM_001378609.3(OTOGL):c.1518A>C (p.Gln506His)
NM_001378609.3(OTOGL):c.1541G>A (p.Gly514Glu)
NM_001378609.3(OTOGL):c.1825G>A (p.Ala609Thr)
NM_001378609.3(OTOGL):c.1835G>A (p.Arg612Lys)
NM_001378609.3(OTOGL):c.1906A>G (p.Ile636Val)
NM_001378609.3(OTOGL):c.1930G>A (p.Ala644Thr)
NM_001378609.3(OTOGL):c.1987G>C (p.Asp663His)
NM_001378609.3(OTOGL):c.2051A>C (p.Glu684Ala)
NM_001378609.3(OTOGL):c.2152C>T (p.Leu718Phe)
NM_001378609.3(OTOGL):c.2270T>C (p.Phe757Ser)
NM_001378609.3(OTOGL):c.2275C>A (p.Leu759Ile)
NM_001378609.3(OTOGL):c.2327C>T (p.Ala776Val)
NM_001378609.3(OTOGL):c.2395C>T (p.His799Tyr)
NM_001378609.3(OTOGL):c.2414G>A (p.Arg805Lys)
NM_001378609.3(OTOGL):c.2437G>A (p.Glu813Lys)
NM_001378609.3(OTOGL):c.2761G>A (p.Glu921Lys)
NM_001378609.3(OTOGL):c.2895C>G (p.Asp965Glu)
NM_001378609.3(OTOGL):c.293A>G (p.Asp98Gly)
NM_001378609.3(OTOGL):c.3181A>G (p.Thr1061Ala)
NM_001378609.3(OTOGL):c.3220C>A (p.Leu1074Ile)
NM_001378609.3(OTOGL):c.3226G>A (p.Gly1076Arg)
NM_001378609.3(OTOGL):c.324A>T (p.Arg108Ser)
NM_001378609.3(OTOGL):c.3301C>T (p.Arg1101Trp)
NM_001378609.3(OTOGL):c.3322G>A (p.Ala1108Thr)
NM_001378609.3(OTOGL):c.3386T>G (p.Phe1129Cys)
NM_001378609.3(OTOGL):c.3422G>C (p.Ser1141Thr)
NM_001378609.3(OTOGL):c.345G>T (p.Met115Ile)
NM_001378609.3(OTOGL):c.3532A>G (p.Thr1178Ala)
NM_001378609.3(OTOGL):c.3568G>A (p.Glu1190Lys)
NM_001378609.3(OTOGL):c.3628A>G (p.Asn1210Asp)
NM_001378609.3(OTOGL):c.3809C>A (p.Ala1270Glu)
NM_001378609.3(OTOGL):c.3887T>G (p.Leu1296Arg)
NM_001378609.3(OTOGL):c.4144C>A (p.Pro1382Thr)
NM_001378609.3(OTOGL):c.4167C>A (p.Asp1389Glu)
NM_001378609.3(OTOGL):c.4246G>A (p.Glu1416Lys)
NM_001378609.3(OTOGL):c.442A>G (p.Ile148Val)
NM_001378609.3(OTOGL):c.5065G>T (p.Asp1689Tyr)
NM_001378609.3(OTOGL):c.5123T>C (p.Ile1708Thr)
NM_001378609.3(OTOGL):c.5188A>G (p.Arg1730Gly)
NM_001378609.3(OTOGL):c.5497A>G (p.Thr1833Ala)
NM_001378609.3(OTOGL):c.55C>T (p.His19Tyr)
NM_001378609.3(OTOGL):c.5668T>C (p.Tyr1890His)
NM_001378609.3(OTOGL):c.5692A>G (p.Ile1898Val)
NM_001378609.3(OTOGL):c.575G>A (p.Arg192Gln)
NM_001378609.3(OTOGL):c.5761A>G (p.Met1921Val)
NM_001378609.3(OTOGL):c.5768T>A (p.Ile1923Asn)
NM_001378609.3(OTOGL):c.5846G>A (p.Cys1949Tyr)
NM_001378609.3(OTOGL):c.5864T>C (p.Leu1955Ser)
NM_001378609.3(OTOGL):c.5894G>C (p.Cys1965Ser)
NM_001378609.3(OTOGL):c.6058G>A (p.Asp2020Asn)
NM_001378609.3(OTOGL):c.6139T>C (p.Cys2047Arg)
NM_001378609.3(OTOGL):c.6373A>C (p.Asn2125His)
NM_001378609.3(OTOGL):c.6484G>A (p.Val2162Met)
NM_001378609.3(OTOGL):c.6535A>G (p.Ser2179Gly)
NM_001378609.3(OTOGL):c.6557C>T (p.Thr2186Ile)
NM_001378609.3(OTOGL):c.6614C>T (p.Ala2205Val)
NM_001378609.3(OTOGL):c.6700G>A (p.Val2234Ile)
NM_001378609.3(OTOGL):c.6860C>T (p.Pro2287Leu)
NM_001378609.3(OTOGL):c.6952C>T (p.Arg2318Cys) rs267603696
NM_001378609.3(OTOGL):c.741G>C (p.Glu247Asp)
NM_001378609.3(OTOGL):c.763G>C (p.Gly255Arg)
NM_001378609.3(OTOGL):c.78A>T (p.Gln26His)
NM_001378609.3(OTOGL):c.815A>T (p.Gln272Leu)
NM_001378609.3(OTOGL):c.899C>T (p.Pro300Leu)
NM_001378609.3(OTOGL):c.967A>C (p.Ile323Leu)

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