ClinVar Miner

List of variants studied for Amelogenesis imperfecta type 1F

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_016519.6(AMBN):c.882C>A (p.His294Gln) rs113506649 0.01779
NM_016519.6(AMBN):c.209C>G (p.Ser70Ter) rs146148316 0.00011
NM_016519.6(AMBN):c.15+1G>A
NM_016519.6(AMBN):c.294+140_531+479del
NM_016519.6(AMBN):c.295T>C (p.Tyr99His)
NM_016519.6(AMBN):c.532-1G>C rs146238585
NM_016519.6(AMBN):c.539dup (p.Val181fs)
NM_016519.6(AMBN):c.571-1G>C
NM_016519.6(AMBN):c.577G>T (p.Gly193Ter)
NM_016519.6(AMBN):c.76G>A (p.Ala26Thr)

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