ClinVar Miner

List of variants studied for Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism 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_005220.3(DLX3):c.710A>G (p.Tyr237Cys) rs142563930 0.00179
NM_005220.3(DLX3):c.537C>A (p.Asn179Lys)
NM_005220.3(DLX3):c.92C>G (p.Thr31Ser)

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