List of variants in gene combination LOC130006032, LTBP3 reported as uncertain significance 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: 8

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HGVS	dbSNP	gnomAD frequency
NM_001130144.3(LTBP3):c.1925A>G (p.His642Arg)	rs968371027	0.00001
NM_001130144.3(LTBP3):c.1942C>A (p.Arg648Ser)	rs763889449	0.00001
NM_001130144.3(LTBP3):c.1977G>T (p.Val659=)	rs755306051	0.00001
NM_001130144.3(LTBP3):c.1924C>G (p.His642Asp)
NM_001130144.3(LTBP3):c.1936G>C (p.Gly646Arg)
NM_001130144.3(LTBP3):c.1942C>T (p.Arg648Cys)	rs763889449
NM_001130144.3(LTBP3):c.1950C>A (p.His650Gln)
NM_001130144.3(LTBP3):c.1963G>A (p.Gly655Arg)	rs770990142

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