ClinVar Miner

List of variants reported as pathogenic for Autosomal recessive nonsyndromic hearing loss 4 by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000441.2(SLC26A4):c.1334T>G (p.Leu445Trp)	rs111033307	0.00008
NM_000441.2(SLC26A4):c.1588T>C (p.Tyr530His)	rs111033254	0.00002
NM_000441.2(SLC26A4):c.1262A>T (p.Gln421Leu)	rs201660407

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