ClinVar Miner

List of variants studied for Autosomal recessive nonsyndromic hearing loss 84B by Service de Biologie Medicale, CIUSSS du Saguenay-Lac-Saint-Jean

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001378609.3(OTOGL):c.5050G>A (p.Gly1684Arg) rs778223464 0.00002
NM_001378609.3(OTOGL):c.841_842del (p.Met281fs) rs876657658

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