List of variants reported as pathogenic for Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome by GeneReviews

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NC_000018.9:g.73376178_78077248del4701071
NC_000018.9:g.76841645_78077248del1235604
NC_000018.9:g.76854774_78077248del1222475
NC_000018.9:g.77421290_77904990del483701
NM_006701.2:c.Exon 3 deletion

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