ClinVar Miner

List of variants reported as pathogenic for Brachyolmia-amelogenesis imperfecta syndrome by Institute of Human Genetics, University of Ulm

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001130144.3(LTBP3):c.132del (p.Pro45fs)	rs1286042594
NM_001130144.3(LTBP3):c.2216del (p.Gly739fs)	rs752375653
NM_001130144.3(LTBP3):c.3629-1G>T

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