ClinVar Miner

List of variants studied for Autosomal recessive nonsyndromic hearing loss 84B by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001378609.3(OTOGL):c.28A>G (p.Met10Val) rs1277996676 0.00001
NM_001378609.3(OTOGL):c.4199+1G>A rs1887509362 0.00001
NM_001378609.3(OTOGL):c.4741C>T (p.Gln1581Ter) rs2541306591

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