ClinVar Miner

List of variants reported as pathogenic for Autosomal recessive nonsyndromic hearing loss 61

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_198999.3(SLC26A5):c.209G>A (p.Trp70Ter)	rs431905518
NM_198999.3(SLC26A5):c.390A>C (p.Arg130Ser)	rs431905517
NM_198999.3(SLC26A5):c.949del (p.Val317fs)	rs770663172

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