ClinVar Miner

List of variants reported as not provided for Deafness, autosomal recessive 53; Deafness, autosomal dominant 13; Otospondylomegaepiphyseal dysplasia; Stickler syndrome, type 3; Fibrochondrogenesis 2

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Total variants: 1
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HGVS dbSNP
NM_080680.2(COL11A2):c.2921C>T (p.Ala974Val) rs376797260

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