ClinVar Miner

List of variants studied for Amelogenesis imperfecta type 1F by Reference Center For Rare Oral And Dental Diseases, Crmr O-rares, Hôpitaux Universitaires De Strasbourg

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Total variants: 4
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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.15+1G>A
NM_016519.6(AMBN):c.571-1G>C
NM_016519.6(AMBN):c.577G>T (p.Gly193Ter)

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