List of variants in gene LTBP3 reported as likely 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: 17

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HGVS	dbSNP	gnomAD frequency
NM_001130144.3(LTBP3):c.1979-1G>C	rs1275684003	0.00001
NM_001130144.3(LTBP3):c.1063+1G>A	rs766900840
NM_001130144.3(LTBP3):c.1063+1G>T
NM_001130144.3(LTBP3):c.1064-2A>G
NM_001130144.3(LTBP3):c.1346-1G>A
NM_001130144.3(LTBP3):c.1531+1G>A
NM_001130144.3(LTBP3):c.1531+2del
NM_001130144.3(LTBP3):c.1720+1dup
NM_001130144.3(LTBP3):c.1721-1G>A	rs2135143551
NM_001130144.3(LTBP3):c.2495del (p.Phe832fs)
NM_001130144.3(LTBP3):c.2893+1G>T	rs2135125210
NM_001130144.3(LTBP3):c.3628+2T>C	rs757974017
NM_001130144.3(LTBP3):c.3629-2A>G
NM_001130144.3(LTBP3):c.3877_3909dup (p.Pro1293_Arg1303dup)	rs2135114515
NM_001130144.3(LTBP3):c.646_661+26del
NM_001130144.3(LTBP3):c.662-2A>C
NM_001130144.3(LTBP3):c.971-1G>A

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