ClinVar Miner

List of variants reported as pathogenic for Amelogenesis imperfecta type 1F by Leeds Amelogenesis Imperfecta Research Group, University of Leeds

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_016519.6(AMBN):c.209C>G (p.Ser70Ter)	rs146148316	0.00011
NM_016519.6(AMBN):c.539dup (p.Val181fs)	rs2545315463

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