ClinVar Miner

List of variants reported as likely pathogenic for Amelogenesis imperfecta hypomaturation type 2A2 by Reference Center For Rare Oral And Dental Diseases, Crmr O-rares, Hôpitaux Universitaires De Strasbourg

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_004771.4(MMP20):c.1126C>T (p.Gln376Ter)
NM_004771.4(MMP20):c.1362C>G (p.Tyr454Ter)
NM_004771.4(MMP20):c.359dup (p.Asn120fs)

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