ClinVar Miner

List of variants studied for Weill-Marchesani syndrome 3

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Total variants: 9
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NM_000428.3(LTBP2):c.1295C>T (p.Pro432Leu) rs137854861
NM_000428.3(LTBP2):c.1609C>A (p.Pro537Thr) rs770862437
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.3423C>A (p.Asp1141Glu)
NM_000428.3(LTBP2):c.3529G>A (p.Val1177Met) rs137854856
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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