ClinVar Miner

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

Included ClinVar conditions (7):
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Gene type:
ClinVar version:
Total variants: 97
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HGVS dbSNP
NM_000428.2(LTBP2):c.*10dupG rs546442756
NM_000428.2(LTBP2):c.*1170A>G rs886050749
NM_000428.2(LTBP2):c.*1180C>T rs576929018
NM_000428.2(LTBP2):c.*1302G>A rs191692241
NM_000428.2(LTBP2):c.*1302G>C rs191692241
NM_000428.2(LTBP2):c.*147A>T rs886050753
NM_000428.2(LTBP2):c.*1518_*1520dupGTT rs565536636
NM_000428.2(LTBP2):c.*1631C>T rs183119073
NM_000428.2(LTBP2):c.*167G>A rs574028105
NM_000428.2(LTBP2):c.*1743C>T rs781717691
NM_000428.2(LTBP2):c.*1818C>T rs1052939
NM_000428.2(LTBP2):c.*1957A>G rs73296215
NM_000428.2(LTBP2):c.*2026T>C rs886050748
NM_000428.2(LTBP2):c.*206C>T rs192723743
NM_000428.2(LTBP2):c.*2266G>A rs886050747
NM_000428.2(LTBP2):c.*229C>T rs141989493
NM_000428.2(LTBP2):c.*233A>G rs886050752
NM_000428.2(LTBP2):c.*2353T>C rs552983028
NM_000428.2(LTBP2):c.*373A>G rs886050751
NM_000428.2(LTBP2):c.*55G>A rs185374765
NM_000428.2(LTBP2):c.*638T>G rs886050750
NM_000428.2(LTBP2):c.*743G>A rs541978964
NM_000428.2(LTBP2):c.*824C>T rs7569
NM_000428.2(LTBP2):c.-222C>G rs886050764
NM_000428.2(LTBP2):c.-232G>A rs61980926
NM_000428.2(LTBP2):c.-33C>A rs886050760
NM_000428.2(LTBP2):c.-46G>C rs886050761
NM_000428.2(LTBP2):c.-55G>A rs571506111
NM_000428.2(LTBP2):c.-64C>T rs886050762
NM_000428.2(LTBP2):c.-93C>T rs769936231
NM_000428.2(LTBP2):c.-97C>T rs886050763
NM_000428.2(LTBP2):c.1021+14G>A rs150408645
NM_000428.2(LTBP2):c.1097G>A (p.Arg366His) rs759632617
NM_000428.2(LTBP2):c.10C>T (p.Arg4Trp) rs773927709
NM_000428.2(LTBP2):c.1132A>C (p.Thr378Pro) rs200471693
NM_000428.2(LTBP2):c.1287G>A (p.Leu429=) rs61738025
NM_000428.2(LTBP2):c.1301C>T (p.Pro434Leu) rs371940681
NM_000428.2(LTBP2):c.1485G>A (p.Arg495=) rs756729691
NM_000428.2(LTBP2):c.1531C>A (p.Pro511Thr) rs553562104
NM_000428.2(LTBP2):c.1609C>A (p.Pro537Thr) rs770862437
NM_000428.2(LTBP2):c.1656C>T (p.Gly552=) rs764120281
NM_000428.2(LTBP2):c.1745C>T (p.Ala582Val) rs886050759
NM_000428.2(LTBP2):c.1760C>T (p.Thr587Ile) rs886050758
NM_000428.2(LTBP2):c.1796C>T (p.Pro599Leu) rs139018077
NM_000428.2(LTBP2):c.1833G>A (p.Gly611=) rs775155970
NM_000428.2(LTBP2):c.2041G>A (p.Gly681Ser) rs373539611
NM_000428.2(LTBP2):c.2178C>T (p.Ala726=) rs144866585
NM_000428.2(LTBP2):c.2184C>T (p.His728=) rs140818407
NM_000428.2(LTBP2):c.220G>C (p.Glu74Gln) rs79886273
NM_000428.2(LTBP2):c.2283C>T (p.Ser761=) rs537908823
NM_000428.2(LTBP2):c.2406T>C (p.Thr802=) rs699374
NM_000428.2(LTBP2):c.2441C>G (p.Thr814Ser) rs1555349144
NM_000428.2(LTBP2):c.249G>A (p.Gln83=) rs779279335
NM_000428.2(LTBP2):c.2541A>G (p.Arg847=) rs140719298
NM_000428.2(LTBP2):c.2588A>G (p.Asn863Ser) rs562124154
NM_000428.2(LTBP2):c.2657C>A (p.Thr886Lys) rs201591982
NM_000428.2(LTBP2):c.2771C>T (p.Ala924Val) rs142675579
NM_000428.2(LTBP2):c.2788+13C>T rs78258030
NM_000428.2(LTBP2):c.2788+14G>A rs753628301
NM_000428.2(LTBP2):c.2788+15C>G rs376663839
NM_000428.2(LTBP2):c.2789-9T>C rs368269193
NM_000428.2(LTBP2):c.2837C>T (p.Thr946Ile) rs771319126
NM_000428.2(LTBP2):c.2852C>T (p.Ser951Leu) rs773718655
NM_000428.2(LTBP2):c.2853G>A (p.Ser951=) rs151176143
NM_000428.2(LTBP2):c.2885T>C (p.Met962Thr) rs886050757
NM_000428.2(LTBP2):c.3047C>T (p.Thr1016Ile) rs149991486
NM_000428.2(LTBP2):c.3076A>G (p.Thr1026Ala) rs759008893
NM_000428.2(LTBP2):c.3114G>A (p.Gln1038=) rs886050756
NM_000428.2(LTBP2):c.3176C>A (p.Ala1059Asp) rs369840829
NM_000428.2(LTBP2):c.3262G>A (p.Gly1088Ser) rs61505039
NM_000428.2(LTBP2):c.3278-15G>A rs201661499
NM_000428.2(LTBP2):c.3527-14T>C rs137854886
NM_000428.2(LTBP2):c.3527-3C>A rs138194436
NM_000428.2(LTBP2):c.3529G>A (p.Val1177Met) rs137854856
NM_000428.2(LTBP2):c.3558C>T (p.Cys1186=) rs757843416
NM_000428.2(LTBP2):c.3571G>A (p.Glu1191Lys) rs137854862
NM_000428.2(LTBP2):c.3753C>T (p.Ser1251=) rs763990884
NM_000428.2(LTBP2):c.3851G>A (p.Arg1284His) rs201598003
NM_000428.2(LTBP2):c.3891G>A (p.Pro1297=) rs61738013
NM_000428.2(LTBP2):c.4089C>T (p.Asn1363=) rs141318496
NM_000428.2(LTBP2):c.4203G>A (p.Thr1401=) rs150977380
NM_000428.2(LTBP2):c.4285C>T (p.Arg1429Trp) rs150484024
NM_000428.2(LTBP2):c.4467T>C (p.Cys1489=) rs80088294
NM_000428.2(LTBP2):c.4476C>T (p.Phe1492=) rs562333691
NM_000428.2(LTBP2):c.450G>T (p.Arg150=) rs111342797
NM_000428.2(LTBP2):c.4516G>A (p.Val1506Met) rs117800773
NM_000428.2(LTBP2):c.4621G>A (p.Glu1541Lys) rs143456909
NM_000428.2(LTBP2):c.4821G>A (p.Thr1607=) rs139030976
NM_000428.2(LTBP2):c.4869G>A (p.Leu1623=) rs61738022
NM_000428.2(LTBP2):c.4964A>G (p.Tyr1655Cys) rs140493259
NM_000428.2(LTBP2):c.5269T>C (p.Cys1757Arg) rs886050755
NM_000428.2(LTBP2):c.5270G>T (p.Cys1757Phe) rs886050754
NM_000428.2(LTBP2):c.5296G>T (p.Asp1766Tyr) rs772174775
NM_000428.2(LTBP2):c.800C>T (p.Ser267Leu) rs149952751
NM_000428.2(LTBP2):c.804_821dup (p.Ala276_Gly277insProGlnSerProProAla) rs554570575
NM_000428.2(LTBP2):c.818C>T (p.Ser273Leu) rs143282840
NM_000428.2(LTBP2):c.956C>A (p.Pro319Gln) rs2304707

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