ClinVar Miner

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

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 47
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HGVS dbSNP gnomAD frequency
NM_001378609.3(OTOGL):c.5407+13T>G rs371577790 0.01958
NM_001378609.3(OTOGL):c.3607+12A>C rs190638140 0.00676
NM_001378609.3(OTOGL):c.5710G>A (p.Asp1904Asn) rs145653077 0.00603
NM_001378609.3(OTOGL):c.5923T>C (p.Leu1975=) rs73139245 0.00550
NM_001378609.3(OTOGL):c.5227T>A (p.Leu1743Ile) rs61729710 0.00351
NM_001378609.3(OTOGL):c.929G>A (p.Gly310Glu) rs186616540 0.00327
NM_001378609.3(OTOGL):c.1711+11G>A rs111256101 0.00248
NM_001378609.3(OTOGL):c.3450+16A>C rs138262845 0.00238
NM_001378609.3(OTOGL):c.3427A>G (p.Ile1143Val) rs117462138 0.00235
NM_001378609.3(OTOGL):c.2394C>T (p.Phe798=) rs111695304 0.00233
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.1395-12A>G rs138572593 0.00187
NM_001378609.3(OTOGL):c.6283A>G (p.Ile2095Val) rs149249642 0.00177
NM_001378609.3(OTOGL):c.3213+10C>T rs201373228 0.00137
NM_001378609.3(OTOGL):c.1990C>T (p.Pro664Ser) rs76420383 0.00136
NM_001378609.3(OTOGL):c.4906G>A (p.Glu1636Lys) rs143817729 0.00134
NM_001378609.3(OTOGL):c.93A>G (p.Ala31=) rs147902353 0.00127
NM_001378609.3(OTOGL):c.2456C>T (p.Ser819Leu) rs199855270 0.00126
NM_001378609.3(OTOGL):c.3513C>T (p.Gly1171=) rs145834039 0.00121
NM_001378609.3(OTOGL):c.519G>A (p.Ser173=) rs181528168 0.00121
NM_001378609.3(OTOGL):c.917C>T (p.Pro306Leu) rs200050988 0.00121
NM_001378609.3(OTOGL):c.3010T>C (p.Leu1004=) rs182548010 0.00116
NM_001378609.3(OTOGL):c.236-10T>C rs769949412 0.00109
NM_001378609.3(OTOGL):c.1815G>T (p.Gln605His) rs192234924 0.00101
NM_001378609.3(OTOGL):c.4199+10G>A rs149452803 0.00098
NM_001378609.3(OTOGL):c.5617C>A (p.Pro1873Thr) rs141867785 0.00098
NM_001378609.3(OTOGL):c.6626C>T (p.Thr2209Ile) rs146572555 0.00096
NM_001378609.3(OTOGL):c.4280-5T>C rs200889330 0.00091
NM_001378609.3(OTOGL):c.1441+10T>A rs367996419 0.00059
NM_001378609.3(OTOGL):c.4146C>A (p.Pro1382=) rs374853700 0.00045
NM_001378609.3(OTOGL):c.4279+12C>T rs200115208 0.00045
NM_001378609.3(OTOGL):c.2391-16C>A rs139336265 0.00044
NM_001378609.3(OTOGL):c.4605G>A (p.Arg1535=) rs543306122 0.00042
NM_001378609.3(OTOGL):c.6020-7A>G rs568908160 0.00039
NM_001378609.3(OTOGL):c.4708A>G (p.Ile1570Val) rs374784341 0.00029
NM_001378609.3(OTOGL):c.6616-19C>T rs144322810 0.00025
NM_001378609.3(OTOGL):c.2345C>T (p.Pro782Leu) rs200797401 0.00024
NM_001378609.3(OTOGL):c.5069C>T (p.Pro1690Leu) rs185895624 0.00021
NM_001378609.3(OTOGL):c.4279+13G>A rs376435404 0.00014
NM_001378609.3(OTOGL):c.4861-19T>C rs377343504 0.00003
NM_001378609.3(OTOGL):c.1350A>G (p.Leu450=) rs557104053
NM_001378609.3(OTOGL):c.5730G>T (p.Thr1910=) rs762557747
NM_001378609.3(OTOGL):c.5999G>A (p.Cys2000Tyr)
NM_001378609.3(OTOGL):c.6055C>A (p.His2019Asn) rs201869161

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