ClinVar Miner

List of variants in gene LTBP4 reported as pathogenic for not provided

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_003573.2(LTBP4):c.254del (p.Leu85fs) rs747013505 0.00010
NM_001042545.2(LTBP4):c.1397_1401del (p.Ala466fs)
NM_001042545.2(LTBP4):c.1860C>A (p.Cys620Ter)
NM_001042545.2(LTBP4):c.1965_1966dup (p.Pro656fs)
NM_001042545.2(LTBP4):c.2004_2005del (p.Ala669fs)
NM_001042545.2(LTBP4):c.2037_2050del (p.Gly680fs)
NM_001042545.2(LTBP4):c.2071C>T (p.Arg691Ter)
NM_001042545.2(LTBP4):c.2854dup (p.Ala952fs)
NM_001042545.2(LTBP4):c.2877del (p.Gly960fs)
NM_001042545.2(LTBP4):c.3035_3036insA (p.Tyr1013fs)
NM_001042545.2(LTBP4):c.3159del (p.Asn1053fs)
NM_001042545.2(LTBP4):c.3205C>T (p.Arg1069Ter)
NM_001042545.2(LTBP4):c.3497C>A (p.Ser1166Ter)
NM_001042545.2(LTBP4):c.349dup (p.Ser117fs)
NM_001042545.2(LTBP4):c.3694G>T (p.Glu1232Ter)
NM_001042545.2(LTBP4):c.3994G>T (p.Glu1332Ter)
NM_001042545.2(LTBP4):c.4023dup (p.Ala1342fs) rs754757253
NM_001042545.2(LTBP4):c.4029T>G (p.Tyr1343Ter) rs1555744253
NM_001042545.2(LTBP4):c.4037dup (p.Arg1347fs) rs606231161
NM_003573.2(LTBP4):c.202_203del (p.Gln68fs)
NM_003573.2(LTBP4):c.284_285del (p.Gly95fs)
NM_003573.2(LTBP4):c.312_324dup (p.Ala109fs)

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