List of variants in gene combination LOC130006030, LTBP3 reported as likely benign 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: 7

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HGVS	dbSNP	gnomAD frequency
NM_001130144.3(LTBP3):c.2223C>G (p.Ala741=)	rs760181021	0.00004
NM_001130144.3(LTBP3):c.2230+15C>T	rs376917383	0.00002
NM_001130144.3(LTBP3):c.2142G>T (p.Pro714=)
NM_001130144.3(LTBP3):c.2178G>A (p.Lys726=)
NM_001130144.3(LTBP3):c.2208C>T (p.Ser736=)
NM_001130144.3(LTBP3):c.2212G>A (p.Gly738Arg)	rs377496105
NM_001130144.3(LTBP3):c.2230+18A>G

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