ClinVar Miner

List of variants reported as uncertain significance for Marshall syndrome; Stickler syndrome type 2; Fibrochondrogenesis 1; Hearing loss, autosomal dominant 37

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Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_001854.4(COL11A1):c.2285G>A (p.Arg762Gln) rs758825857

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