ClinVar Miner

List of variants reported as pathogenic for Cleft lip/palate-ectodermal dysplasia syndrome by OMIM

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_002855.5(NECTIN1):c.554G>A (p.Trp185Ter) rs104894281
NM_002855.5(NECTIN1):c.556del (p.Glu186fs) rs876657374
NM_002855.5(NECTIN1):c.969dup (p.Thr324fs) rs878853255

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