List of variants reported as pathogenic for brachyolmia-amelogenesis imperfecta syndrome by OMIM

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001130144.3(LTBP3):c.132del (p.Pro45fs)	rs1286042594
NM_001130144.3(LTBP3):c.1531+1G>T	rs875989823
NM_001130144.3(LTBP3):c.1859dup (p.Cys620fs)	rs878853262
NM_001130144.3(LTBP3):c.2071_2084del (p.Tyr691fs)	rs875989822
NM_001130144.3(LTBP3):c.2216del (p.Gly739fs)	rs752375653
NM_001130144.3(LTBP3):c.2248G>T (p.Glu750Ter)	rs1554973844
NM_001130144.3(LTBP3):c.2322C>G (p.Tyr774Ter)	rs121909145
NM_001130144.3(LTBP3):c.2356del (p.Val786fs)	rs875989824
NM_001130144.3(LTBP3):c.421C>T (p.Gln141Ter)	rs796052116

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