ClinVar Miner

List of variants reported as pathogenic for Autosomal recessive nonsyndromic hearing loss 84B by OMIM

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001378609.3(OTOGL):c.1457del (p.Val486fs) rs1233562246 0.00003
NM_001378609.3(OTOGL):c.574C>T (p.Arg192Ter) rs397514588 0.00003
NM_001378609.3(OTOGL):c.5265+5G>A rs902734999 0.00001

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