ClinVar Miner

List of variants in gene LTBP4 reported as uncertain significance by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001042545.2(LTBP4):c.4165C>T (p.Pro1389Ser) rs766093064 0.00003
NM_001042545.2(LTBP4):c.3485C>T (p.Ala1162Val) rs1555741927 0.00001
NM_001042545.2(LTBP4):c.4348G>C (p.Glu1450Gln) rs187448224 0.00001
NM_001042545.2(LTBP4):c.1427-13C>G rs727505005
NM_001042545.2(LTBP4):c.4018C>T (p.Pro1340Ser) rs370767377
NM_001042545.2(LTBP4):c.4441T>C (p.Cys1481Arg) rs876657866
NM_003573.2(LTBP4):c.304A>G (p.Arg102Gly) rs553283319

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