ClinVar Miner

List of variants reported as pathogenic for Brachyolmia-amelogenesis imperfecta syndrome by Invitae

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_001130144.3(LTBP3):c.1160_1161insGTGT (p.Gly388fs) rs2135155640
NM_001130144.3(LTBP3):c.1483del (p.Glu495fs)
NM_001130144.3(LTBP3):c.1569del (p.Val524fs)
NM_001130144.3(LTBP3):c.1646del (p.Pro549fs)
NM_001130144.3(LTBP3):c.1735C>T (p.Arg579Ter) rs767708438
NM_001130144.3(LTBP3):c.1854_1860dup (p.Glu621fs)
NM_001130144.3(LTBP3):c.1937del (p.Gly646fs) rs1347418307
NM_001130144.3(LTBP3):c.1965dup (p.Arg656fs)
NM_001130144.3(LTBP3):c.2209del (p.Gln737fs)
NM_001130144.3(LTBP3):c.2215_2216delinsT (p.Gly739fs)
NM_001130144.3(LTBP3):c.2328del (p.Ala777fs)
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.2973_2974del (p.His991fs)
NM_001130144.3(LTBP3):c.3159del (p.Asn1053fs)
NM_001130144.3(LTBP3):c.3213_3214del (p.Gln1072fs) rs2135120937
NM_001130144.3(LTBP3):c.3342dup (p.Gly1115fs) rs1363345814
NM_001130144.3(LTBP3):c.3376_3377del (p.Ser1126fs)
NM_001130144.3(LTBP3):c.3605_3623dup (p.Arg1209fs)
NM_001130144.3(LTBP3):c.3615dup (p.Lys1206fs)
NM_001130144.3(LTBP3):c.3670del (p.Cys1223_Val1224insTer)
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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