ClinVar Miner

List of variants in gene LTBP4 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_001042545.2(LTBP4):c.4034C>G (p.Pro1345Arg) rs199678003 0.00055
NM_001042545.2(LTBP4):c.1882C>T (p.Arg628Cys) rs200338042 0.00051
NM_001042545.2(LTBP4):c.284T>C (p.Val95Ala) rs200888669 0.00038
NM_001042545.2(LTBP4):c.4111G>A (p.Gly1371Arg) rs200607327 0.00034
NM_001042545.2(LTBP4):c.4604G>A (p.Cys1535Tyr) rs200665923 0.00034
NM_001042545.2(LTBP4):c.3005C>T (p.Pro1002Leu) rs372523048 0.00020
NM_001042545.2(LTBP4):c.2617G>C (p.Gly873Arg) rs201533251 0.00016
NM_001042545.2(LTBP4):c.3268G>A (p.Ala1090Thr) rs372105249 0.00016
NM_001042545.2(LTBP4):c.2176G>C (p.Glu726Gln) rs199691160 0.00013
NM_001042545.2(LTBP4):c.1895C>T (p.Pro632Leu) rs201619081 0.00005
NM_001042545.2(LTBP4):c.3470C>T (p.Pro1157Leu) rs755741997 0.00004
NM_001042545.2(LTBP4):c.1158G>A (p.Glu386=) rs1015435132 0.00002
NM_001042545.2(LTBP4):c.1291T>A (p.Ser431Thr) rs761652593 0.00001
NM_001042545.2(LTBP4):c.4016G>A (p.Arg1339His) rs757090322 0.00001
NM_003573.2(LTBP4):c.146G>T (p.Arg49Leu) rs1229414237 0.00001
NM_001042545.2(LTBP4):c.1042G>T (p.Asp348Tyr) rs1295939936
NM_001042545.2(LTBP4):c.1837G>A (p.Gly613Ser) rs1057519111
NM_001042545.2(LTBP4):c.1973G>T (p.Arg658Leu) rs777432652
NM_001042545.2(LTBP4):c.2924C>G (p.Thr975Arg) rs771821666
NM_001042545.2(LTBP4):c.3501G>A (p.Leu1167=)
NM_001042545.2(LTBP4):c.4018C>G (p.Pro1340Ala) rs370767377
NM_001042545.2(LTBP4):c.4018C>T (p.Pro1340Ser) rs370767377
NM_001042545.2(LTBP4):c.4160C>T (p.Pro1387Leu) rs190277382
NM_001042545.2(LTBP4):c.4280C>T (p.Pro1427Leu) rs749554281
NM_001042545.2(LTBP4):c.4423G>A (p.Gly1475Ser) rs771795378
NM_001042545.2(LTBP4):c.4465A>G (p.Thr1489Ala)
NM_001042545.2(LTBP4):c.4553C>T (p.Ser1518Phe)
NM_001042545.2(LTBP4):c.4666C>T (p.Arg1556Trp) rs1459808397
NM_003573.2(LTBP4):c.231-3C>G rs1057519110

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