ClinVar Miner

List of variants reported as benign for Ectopia lentis 1, isolated, autosomal dominant; Marfan syndrome; MASS syndrome; Stiff skin syndrome; Weill-Marchesani syndrome 2, dominant; Acromicric dysplasia; Geleophysic dysplasia 2; Progeroid and marfanoid aspect-lipodystrophy syndrome

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Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_000138.5(FBN1):c.6888G>A (p.Gln2296=) rs363830 0.02418

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