ClinVar Miner

List of variants studied 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: 4
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HGVS dbSNP gnomAD frequency
NM_004771.4(MMP20):c.1126C>T (p.Gln376Ter) rs781178683 0.00001
NM_004771.4(MMP20):c.1362C>G (p.Tyr454Ter) rs761478767
NM_004771.4(MMP20):c.359dup (p.Asn120fs) rs759614533
NM_004771.4(MMP20):c.530G>A (p.Gly177Glu) rs961549124

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