ClinVar Miner

List of variants studied for Microspherophakia; Glaucoma 3, primary congenital, D; Weill-Marchesani syndrome 3

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000428.3(LTBP2):c.3611C>T (p.Ala1204Val) rs45468895 0.00057
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.1978C>G (p.Arg660Gly) rs199581688
NM_000428.3(LTBP2):c.804_821dup (p.265_270PQSPPA[3]) rs554570575

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