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

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_002855.5(NECTIN1):c.400C>T (p.Arg134Ter)	rs769476648
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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