ClinVar Miner

List of variants studied for Glaucoma 3, primary infantile, B; Glaucoma 3, primary congenital, D; Weill-Marchesani syndrome 3; Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma by Fulgent Genetics, Fulgent Genetics

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_000428.3(LTBP2):c.4888+18G>A rs73296217 0.01044
NM_000428.3(LTBP2):c.785C>T (p.Pro262Leu) rs143106228 0.00232
NM_000428.3(LTBP2):c.-93C>T rs769936231 0.00049
NM_000428.3(LTBP2):c.1686+3G>A rs190814774 0.00049
NM_000428.3(LTBP2):c.1487G>A (p.Gly496Asp) rs139904243 0.00048
NM_000428.3(LTBP2):c.4912G>A (p.Val1638Met) rs137854860 0.00041
NM_000428.3(LTBP2):c.2758G>A (p.Ala920Thr) rs137914200 0.00036
NM_000428.3(LTBP2):c.587A>G (p.Gln196Arg) rs374099324 0.00032
NM_000428.3(LTBP2):c.5417C>T (p.Pro1806Leu) rs191944410 0.00022
NM_000428.3(LTBP2):c.950C>T (p.Pro317Leu) rs148766628 0.00017
NM_000428.3(LTBP2):c.4877C>T (p.Pro1626Leu) rs141230498 0.00012
NM_000428.3(LTBP2):c.4772C>T (p.Thr1591Ile) rs745626701 0.00010
NM_000428.3(LTBP2):c.1301C>T (p.Pro434Leu) rs371940681 0.00009
NM_000428.3(LTBP2):c.654C>T (p.Cys218=) rs375324850 0.00007
NM_000428.3(LTBP2):c.2388+8C>T rs201838800 0.00005
NM_000428.3(LTBP2):c.4942G>A (p.Gly1648Arg) rs370119182 0.00005
NM_000428.3(LTBP2):c.4620C>T (p.Gly1540=) rs147213897 0.00004
NM_000428.3(LTBP2):c.4934G>A (p.Arg1645Gln) rs371346534 0.00004
NM_000428.3(LTBP2):c.3316G>A (p.Gly1106Arg) rs201430837 0.00003
NM_000428.3(LTBP2):c.4246G>A (p.Gly1416Arg) rs764828666 0.00003
NM_000428.3(LTBP2):c.4285C>T (p.Arg1429Trp) rs150484024 0.00003
NM_000428.3(LTBP2):c.2788+14G>A rs753628301 0.00001
NM_000428.3(LTBP2):c.*10dup rs546442756
NM_000428.3(LTBP2):c.2389-2A>G rs1327636983
NM_000428.3(LTBP2):c.4513A>G (p.Thr1505Ala) rs758952168

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