ClinVar Miner

List of variants in gene OTOGL reported as benign by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

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Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001378609.3(OTOGL):c.3729G>A (p.Pro1243=) rs10778725 0.96377
NM_001378609.3(OTOGL):c.3635-19A>C rs7963215 0.95196
NM_001378609.3(OTOGL):c.6456G>A (p.Thr2152=) rs2717482 0.94876
NM_001378609.3(OTOGL):c.6247A>G (p.Ile2083Val) rs2034528 0.94158
NM_001378609.3(OTOGL):c.5545A>G (p.Ile1849Val) rs7297767 0.83814
NM_001378609.3(OTOGL):c.6421G>A (p.Ala2141Thr) rs1551118 0.70559
NM_001378609.3(OTOGL):c.2789+9A>G rs1376384 0.63172
NM_001378609.3(OTOGL):c.5094T>C (p.Asn1698=) rs10778727 0.51063
NM_001378609.3(OTOGL):c.6737A>G (p.Asn2246Ser) rs1551122 0.49218

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