ClinVar Miner

List of variants in gene LTBP2 reported as benign for Weill-Marchesani syndrome

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 36
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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 0.35382
NM_000428.3(LTBP2):c.*824C>T rs7569 0.34968
NM_000428.3(LTBP2):c.1987+21G>A rs862025 0.31731
NM_000428.3(LTBP2):c.*1818C>T rs1052939 0.26277
NM_000428.3(LTBP2):c.1864+22C>A rs3742794 0.25792
NM_000428.3(LTBP2):c.-232G>A rs61980926 0.06690
NM_000428.3(LTBP2):c.1287G>A (p.Leu429=) rs61738025 0.06402
NM_000428.3(LTBP2):c.956C>A (p.Pro319Gln) rs2304707 0.06364
NM_000428.3(LTBP2):c.*1873C>G rs77847288 0.04063
NM_000428.3(LTBP2):c.2788+13C>T rs78258030 0.03459
NM_000428.3(LTBP2):c.*1957A>G rs73296215 0.03184
NM_000428.3(LTBP2):c.2715C>T (p.Arg905=) rs7145480 0.02571
NM_000428.3(LTBP2):c.3093C>T (p.Ser1031=) rs45473602 0.02522
NM_000428.3(LTBP2):c.*2153T>C rs113879332 0.02134
NM_000428.3(LTBP2):c.4782G>A (p.Val1594=) rs2079631 0.02015
NM_000428.3(LTBP2):c.4263G>A (p.Ala1421=) rs61738017 0.01848
NM_000428.3(LTBP2):c.1021+14G>A rs150408645 0.01641
NM_000428.3(LTBP2):c.3852C>T (p.Arg1284=) rs61736977 0.01531
NM_000428.3(LTBP2):c.3262G>A (p.Gly1088Ser) rs61505039 0.01509
NM_000428.3(LTBP2):c.*2463G>T rs10141546 0.01492
NM_000428.3(LTBP2):c.*2044G>A rs73296214 0.01415
NM_000428.3(LTBP2):c.915G>A (p.Thr305=) rs60337900 0.01292
NM_000428.3(LTBP2):c.4888+18G>A rs73296217 0.01044
NM_000428.3(LTBP2):c.1553G>T (p.Ser518Ile) rs137854857 0.00812
NM_000428.3(LTBP2):c.4769T>C (p.Val1590Ala) rs139932140 0.00769
NM_000428.3(LTBP2):c.3333G>A (p.Thr1111=) rs61729544 0.00645
NM_000428.3(LTBP2):c.4089C>T (p.Asn1363=) rs141318496 0.00600
NM_000428.3(LTBP2):c.5187C>T (p.Phe1729=) rs149587738 0.00465
NM_000428.3(LTBP2):c.2966C>G (p.Pro989Arg) rs76172717 0.00246
NM_000428.3(LTBP2):c.208A>G (p.Ser70Gly) rs201787294 0.00237
NM_000428.3(LTBP2):c.785C>T (p.Pro262Leu) rs143106228 0.00232
NM_000428.3(LTBP2):c.4286G>A (p.Arg1429Gln) rs116914994 0.00133
NM_000428.3(LTBP2):c.4911C>T (p.Asn1637=) rs12586758 0.00074
NM_000428.3(LTBP2):c.1295C>T (p.Pro432Leu) rs137854861 0.00032
NM_000428.3(LTBP2):c.110G>T (p.Arg37Met) rs934996

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