List of variants reported as pathogenic for Amelogenesis imperfecta hypomaturation type 2A2

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_004771.4(MMP20):c.954-2A>T	rs140213840	0.00224
NM_004771.4(MMP20):c.103A>C (p.Arg35=)	rs61751462	0.00009
NM_004771.4(MMP20):c.102G>A (p.Trp34Ter)	rs587777516	0.00006
NM_004771.4(MMP20):c.1122A>C (p.Gln374His)	rs916966344
NM_004771.4(MMP20):c.611A>G (p.His204Arg)	rs786204826
NM_004771.4(MMP20):c.625G>C (p.Glu209Gln)	rs199788797
NM_004771.4(MMP20):c.678T>A (p.His226Gln)	rs587777515
NM_004771.4(MMP20):c.710C>A (p.Ser237Tyr)	rs1565397250
NM_004771.4(MMP20):c.809_811+12delinsCCAG	rs1859555583
NM_004771.4(MMP20):c.[1046C>T;911C>G]

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