ClinVar Miner

List of variants in gene FLNA, LOC107988032 studied 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

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001110556.2(FLNA):c.7756+8A>G	rs201663443	0.00057
NM_001110556.2(FLNA):c.7628G>A (p.Cys2543Tyr)	rs201762017	0.00022

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