ClinVar Miner

List of variants studied for Brachyolmia-amelogenesis imperfecta syndrome by Reference Center For Rare Oral And Dental Diseases, Crmr O-rares, Hôpitaux Universitaires De Strasbourg

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001130144.3(LTBP3):c.3087del (p.Asn1030fs) rs2496123723
NM_001130144.3(LTBP3):c.3629-2A>G rs2496113296

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