ClinVar Miner

List of variants in gene LTBP2 reported by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000428.3(LTBP2):c.1399+10G>T rs143528294 0.00488
NM_000428.3(LTBP2):c.4516G>A (p.Val1506Met) rs117800773 0.00149
NM_000428.3(LTBP2):c.4072G>T (p.Ala1358Ser) rs139138043 0.00089
NM_000428.3(LTBP2):c.3611C>T (p.Ala1204Val) rs45468895 0.00057
NM_000428.3(LTBP2):c.1295C>T (p.Pro432Leu) rs137854861 0.00032
NM_000428.3(LTBP2):c.818C>T (p.Ser273Leu) rs143282840 0.00032
NM_000428.3(LTBP2):c.220G>C (p.Glu74Gln) rs79886273 0.00013
NM_000428.3(LTBP2):c.2012A>T (p.Gln671Leu) rs201372116 0.00008
NM_000428.3(LTBP2):c.4934G>A (p.Arg1645Gln) rs371346534 0.00004
NM_000428.3(LTBP2):c.3423C>A (p.Asp1141Glu) rs745791013 0.00001
NM_000428.3(LTBP2):c.1609C>A (p.Pro537Thr) rs770862437
NM_000428.3(LTBP2):c.1978C>G (p.Arg660Gly) rs199581688
NM_000428.3(LTBP2):c.2441C>G (p.Thr814Ser) rs1555349144
NM_000428.3(LTBP2):c.3940G>A (p.Gly1314Ser)
NM_000428.3(LTBP2):c.804_821dup (p.265_270PQSPPA[3]) rs554570575

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