ClinVar Miner

List of variants reported as likely pathogenic for Autosomal recessive nonsyndromic hearing loss 53; Autosomal dominant nonsyndromic hearing loss 13; Otospondylomegaepiphyseal dysplasia, autosomal recessive; Otospondylomegaepiphyseal dysplasia, autosomal dominant; Fibrochondrogenesis 2

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Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_080680.3(COL11A2):c.3058C>T (p.Arg1020Ter) rs911722283 0.00002

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