ClinVar Miner

List of variants in gene LTBP2 studied for Weill-Marchesani syndrome 3

Included ClinVar conditions (5):
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Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_000428.3(LTBP2):c.2502T>C (p.Thr834=) rs862031 0.67247
NM_000428.3(LTBP2):c.2406T>C (p.Thr802=) rs699374 0.35704
NM_000428.3(LTBP2):c.1987+21G>A rs862025 0.31731
NM_000428.3(LTBP2):c.1864+22C>A rs3742794 0.25792
NM_000428.3(LTBP2):c.4888+18G>A rs73296217 0.01044
NM_000428.3(LTBP2):c.1399+10G>T rs143528294 0.00488
NM_000428.3(LTBP2):c.785C>T (p.Pro262Leu) rs143106228 0.00232
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.-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.1295C>T (p.Pro432Leu) rs137854861 0.00032
NM_000428.3(LTBP2):c.587A>G (p.Gln196Arg) rs374099324 0.00032
NM_000428.3(LTBP2):c.818C>T (p.Ser273Leu) rs143282840 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.220G>C (p.Glu74Gln) rs79886273 0.00013
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.2012A>T (p.Gln671Leu) rs201372116 0.00008
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.3423C>A (p.Asp1141Glu) rs745791013 0.00001
NM_000428.3(LTBP2):c.*10dup rs546442756
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.2389-2A>G rs1327636983
NM_000428.3(LTBP2):c.2441C>G (p.Thr814Ser) rs1555349144
NM_000428.3(LTBP2):c.3529G>A (p.Val1177Met) rs137854856
NM_000428.3(LTBP2):c.3940G>A (p.Gly1314Ser)
NM_000428.3(LTBP2):c.4513A>G (p.Thr1505Ala) rs758952168
NM_000428.3(LTBP2):c.804_821del (p.265PQSPPA[1]) rs554570575
NM_000428.3(LTBP2):c.804_821dup (p.265_270PQSPPA[3]) rs554570575

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