List of variants in gene combination LOC130006029, LTBP3 reported as pathogenic for Brachyolmia-amelogenesis imperfecta syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
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.2328del (p.Ala777fs)

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