List of variants reported as pathogenic for Amelogenesis imperfecta hypomaturation type 2A2 by Leeds Amelogenesis Imperfecta Research Group, University of Leeds

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_004771.4(MMP20):c.1122A>C (p.Gln374His)	rs916966344
NM_004771.4(MMP20):c.625G>C (p.Glu209Gln)	rs199788797
NM_004771.4(MMP20):c.710C>A (p.Ser237Tyr)	rs1565397250
NM_004771.4(MMP20):c.809_811+12delinsCCAG	rs1859555583

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