ClinVar Miner

List of variants studied for Uveal coloboma-cleft lip and palate-intellectual disability by Genetics Department, University Hospital of Toulouse

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Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_001130145.3(YAP1):c.761A>G (p.Lys254Arg) rs1947930460

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