List of variants in gene combination LOC130006027, 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: 18

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HGVS	dbSNP	gnomAD frequency
NM_001130144.3(LTBP3):c.3342C>T (p.Pro1114=)	rs1002150082	0.00009
NM_001130144.3(LTBP3):c.3386-4G>A	rs758834505	0.00009
NM_001130144.3(LTBP3):c.3372C>T (p.Pro1124=)	rs891777322	0.00003
NM_001130144.3(LTBP3):c.3386-18G>A	rs1371017072	0.00001
NM_001130144.3(LTBP3):c.3386-6C>T	rs1369304738	0.00001
NM_001130144.3(LTBP3):c.3330G>A (p.Pro1110=)
NM_001130144.3(LTBP3):c.3348C>T (p.Pro1116=)
NM_001130144.3(LTBP3):c.3372C>A (p.Pro1124=)	rs891777322
NM_001130144.3(LTBP3):c.3378C>T (p.Ser1126=)	rs2135119684
NM_001130144.3(LTBP3):c.3381G>A (p.Pro1127=)
NM_001130144.3(LTBP3):c.3385+11G>A	rs2135119574
NM_001130144.3(LTBP3):c.3385+20T>A
NM_001130144.3(LTBP3):c.3385+9G>A
NM_001130144.3(LTBP3):c.3386-12T>C
NM_001130144.3(LTBP3):c.3386-15A>G
NM_001130144.3(LTBP3):c.3386-16C>T
NM_001130144.3(LTBP3):c.3386-4G>T
NM_001130144.3(LTBP3):c.3386-5C>T

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