ClinVar Miner

List of variants reported as uncertain significance for Cardiac valvular dysplasia, X-linked; FG syndrome 2; Heterotopia, periventricular, X-linked dominant; Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked; Melnick-Needles syndrome; Oto-palato-digital syndrome, type I; Oto-palato-digital syndrome, type II; Terminal osseous dysplasia-pigmentary defects syndrome; Frontometaphyseal dysplasia 1 by Génétique des Maladies du Développement, Hospices Civils de Lyon

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Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_001110556.2(FLNA):c.7628G>A (p.Cys2543Tyr)

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