ClinVar Miner

List of variants reported as likely pathogenic for Uveal coloboma-cleft lip and palate-intellectual disability by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_001130145.3(YAP1):c.1196_1199del (p.Asp399fs)	rs1950250678

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