ClinVar Miner

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

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_001130144.3(LTBP3):c.1160_1161insGTGT (p.Gly388fs) rs2135155640
NM_001130144.3(LTBP3):c.132del (p.Pro45fs) rs1286042594
NM_001130144.3(LTBP3):c.1483del (p.Glu495fs)
NM_001130144.3(LTBP3):c.1531+1G>T rs875989823
NM_001130144.3(LTBP3):c.1569del (p.Val524fs)
NM_001130144.3(LTBP3):c.1646del (p.Pro549fs)
NM_001130144.3(LTBP3):c.1721-2A>G rs2135143557
NM_001130144.3(LTBP3):c.1735C>T (p.Arg579Ter) rs767708438
NM_001130144.3(LTBP3):c.1854_1860dup (p.Glu621fs)
NM_001130144.3(LTBP3):c.1859dup (p.Cys620fs) rs878853262
NM_001130144.3(LTBP3):c.2071_2084del (p.Tyr691fs) rs875989822
NM_001130144.3(LTBP3):c.2356del (p.Val786fs) rs875989824
NM_001130144.3(LTBP3):c.2542dup (p.Tyr848fs) rs2135130818
NM_001130144.3(LTBP3):c.2553_2554del (p.Cys852fs)
NM_001130144.3(LTBP3):c.2579_2582del (p.Gly860fs)
NM_001130144.3(LTBP3):c.2821G>T (p.Glu941Ter)
NM_001130144.3(LTBP3):c.3605_3623dup (p.Arg1209fs)
NM_001130144.3(LTBP3):c.3615dup (p.Lys1206fs)
NM_001130144.3(LTBP3):c.3629-1G>T
NM_001130144.3(LTBP3):c.3670del (p.Cys1223_Val1224insTer)
NM_001130144.3(LTBP3):c.421C>T (p.Gln141Ter) rs796052116
NM_001130144.3(LTBP3):c.483_484del (p.Ala163fs)
NM_001130144.3(LTBP3):c.536_537del (p.Val179fs) rs2135159627
NM_001130144.3(LTBP3):c.932G>A (p.Trp311Ter) rs2135157363

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