ClinVar Miner

Variants in gene OTOGL with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 37
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HGVS dbSNP gnomAD frequency
NM_001378609.3(OTOGL):c.3255T>C (p.Thr1085=) rs138823379 0.00210
NM_001378609.3(OTOGL):c.3069A>G (p.Gln1023=) rs144125797 0.00205
NM_001378609.3(OTOGL):c.3356T>C (p.Ile1119Thr) rs150426222 0.00197
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.3213+10C>T rs201373228 0.00137
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.860C>T (p.Ser287Leu) rs147195954 0.00116
NM_001378609.3(OTOGL):c.2564C>T (p.Pro855Leu) rs183159689 0.00111
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.3742C>G (p.His1248Asp) rs201328043 0.00068
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.124G>A (p.Gly42Arg) rs149117887 0.00049
NM_001378609.3(OTOGL):c.4518C>T (p.Asp1506=) rs187941815 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.1111C>T (p.His371Tyr) rs78377084 0.00014
NM_001378609.3(OTOGL):c.100A>G (p.Ile34Val) rs117411391 0.00011
NM_001378609.3(OTOGL):c.5702T>C (p.Ile1901Thr) rs775475186 0.00009
NM_001378609.3(OTOGL):c.4861-3T>C rs769803656 0.00006
NM_001378609.3(OTOGL):c.3184A>T (p.Ile1062Phe) rs188793584 0.00005
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.3277A>C (p.Asn1093His) rs867315415 0.00001
NM_001378609.3(OTOGL):c.4209A>T (p.Gly1403=) rs747929635 0.00001
NM_001378609.3(OTOGL):c.1712-3C>A
NM_001378609.3(OTOGL):c.2270T>C (p.Phe757Ser)
NM_001378609.3(OTOGL):c.335-9del rs754987281

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