ClinVar Miner

List of variants reported as pathogenic for Brachyolmia-amelogenesis imperfecta syndrome by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_001130144.3(LTBP3):c.3364C>T (p.Gln1122Ter) rs878853036 0.00001
NM_001130144.3(LTBP3):c.1121del (p.Pro374fs)
NM_001130144.3(LTBP3):c.1160_1161insGTGT (p.Gly388fs) rs2135155640
NM_001130144.3(LTBP3):c.1383C>G (p.Tyr461Ter)
NM_001130144.3(LTBP3):c.1471del (p.Gln491fs)
NM_001130144.3(LTBP3):c.1483del (p.Glu495fs) rs2496168975
NM_001130144.3(LTBP3):c.1569del (p.Val524fs) rs2496166673
NM_001130144.3(LTBP3):c.1646del (p.Pro549fs) rs2496165386
NM_001130144.3(LTBP3):c.1735C>T (p.Arg579Ter) rs767708438
NM_001130144.3(LTBP3):c.1854_1860dup (p.Glu621fs) rs2496154682
NM_001130144.3(LTBP3):c.1899del (p.Met633fs)
NM_001130144.3(LTBP3):c.1937del (p.Gly646fs) rs1347418307
NM_001130144.3(LTBP3):c.1965dup (p.Arg656fs) rs1261169167
NM_001130144.3(LTBP3):c.2209del (p.Gln737fs) rs2496149719
NM_001130144.3(LTBP3):c.2210del (p.Gln737fs)
NM_001130144.3(LTBP3):c.2215_2216delinsT (p.Gly739fs) rs2496149640
NM_001130144.3(LTBP3):c.2273G>A (p.Trp758Ter)
NM_001130144.3(LTBP3):c.2328del (p.Ala777fs) rs2496147524
NM_001130144.3(LTBP3):c.2542dup (p.Tyr848fs) rs2135130818
NM_001130144.3(LTBP3):c.2553_2554del (p.Cys852fs) rs2496138297
NM_001130144.3(LTBP3):c.2561del (p.Gln854fs)
NM_001130144.3(LTBP3):c.2579_2582del (p.Gly860fs) rs1402802838
NM_001130144.3(LTBP3):c.2821G>T (p.Glu941Ter) rs2496130187
NM_001130144.3(LTBP3):c.2973_2974del (p.His991fs) rs2496128459
NM_001130144.3(LTBP3):c.3159del (p.Asn1053fs) rs1856044450
NM_001130144.3(LTBP3):c.3213_3214del (p.Gln1072fs) rs2135120937
NM_001130144.3(LTBP3):c.3279_3303del (p.Pro1094fs)
NM_001130144.3(LTBP3):c.3342dup (p.Gly1115fs) rs1363345814
NM_001130144.3(LTBP3):c.3376_3377del (p.Ser1126fs) rs2496118747
NM_001130144.3(LTBP3):c.3510G>A (p.Trp1170Ter)
NM_001130144.3(LTBP3):c.3605_3623dup (p.Arg1209fs) rs1463397648
NM_001130144.3(LTBP3):c.3615dup (p.Lys1206fs) rs2496114380
NM_001130144.3(LTBP3):c.3670del (p.Cys1223_Val1224insTer) rs2496113002
NM_001130144.3(LTBP3):c.483_484del (p.Ala163fs) rs2496178103
NM_001130144.3(LTBP3):c.497del (p.Thr166fs)
NM_001130144.3(LTBP3):c.536_537del (p.Val179fs) rs2135159627
NM_001130144.3(LTBP3):c.765_789del (p.Gln257fs)
NM_001130144.3(LTBP3):c.932G>A (p.Trp311Ter) rs2135157363

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