ClinVar Miner

List of variants studied for Weill-Marchesani syndrome 3 by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (2):
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Total variants: 8
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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.220G>C (p.Glu74Gln) rs79886273
NM_000428.3(LTBP2):c.2441C>G (p.Thr814Ser) rs1555349144
NM_000428.3(LTBP2):c.3611C>T (p.Ala1204Val) rs45468895
NM_000428.3(LTBP2):c.4516G>A (p.Val1506Met) rs117800773
NM_000428.3(LTBP2):c.804_821dup (p.265_270PQSPPA[3]) rs554570575
NM_000428.3(LTBP2):c.818C>T (p.Ser273Leu) rs143282840

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