ClinVar Miner

List of variants reported as likely pathogenic for Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome by Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet

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Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_006701.5(TXNL4A):c.288dup (p.Gly97fs)	rs1568360069

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