ClinVar Miner

List of variants in gene LTBP2 reported by PreventionGenetics, part of Exact Sciences

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Gene type:
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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_000428.3(LTBP2):c.2406T>C (p.Thr802=) rs699374 0.35704
NM_000428.3(LTBP2):c.1287G>A (p.Leu429=) rs61738025 0.06415
NM_000428.3(LTBP2):c.956C>A (p.Pro319Gln) rs2304707 0.06364
NM_000428.3(LTBP2):c.2788+13C>T rs78258030 0.03459
NM_000428.3(LTBP2):c.4782G>A (p.Val1594=) rs2079631 0.02179
NM_000428.3(LTBP2):c.915G>A (p.Thr305=) rs60337900 0.01390
NM_000428.3(LTBP2):c.378C>T (p.Pro126=) rs140842900 0.00528
NM_000428.3(LTBP2):c.1399+10G>T rs143528294 0.00488
NM_000428.3(LTBP2):c.4203G>A (p.Thr1401=) rs150977380 0.00305
NM_000428.3(LTBP2):c.2668G>A (p.Glu890Lys) rs141783623 0.00235
NM_000428.3(LTBP2):c.3807G>A (p.Pro1269=) rs149953380 0.00193
NM_000428.3(LTBP2):c.4467T>C (p.Cys1489=) rs80088294 0.00165
NM_000428.3(LTBP2):c.4516G>A (p.Val1506Met) rs117800773 0.00149
NM_000428.3(LTBP2):c.4905G>C (p.Leu1635=) rs144520047 0.00137
NM_000428.3(LTBP2):c.3863G>T (p.Gly1288Val) rs139481866 0.00131
NM_000428.3(LTBP2):c.4621G>A (p.Glu1541Lys) rs143456909 0.00121
NM_000428.3(LTBP2):c.4072G>T (p.Ala1358Ser) rs139138043 0.00089
NM_000428.3(LTBP2):c.2924G>A (p.Arg975His) rs141766242 0.00088
NM_000428.3(LTBP2):c.1789+7G>A rs200259519 0.00033
NM_000428.3(LTBP2):c.2784T>C (p.Cys928=) rs140090189 0.00031
NM_000428.3(LTBP2):c.2160C>T (p.Phe720=) rs74758312 0.00023
NM_000428.3(LTBP2):c.2667C>T (p.Asn889=) rs546041607 0.00013
NM_000428.3(LTBP2):c.3373C>T (p.Arg1125Trp) rs201501300 0.00013
NM_000428.3(LTBP2):c.1686+8C>G rs563097395 0.00009
NM_000428.3(LTBP2):c.2389-4G>T rs370271125 0.00006
NM_000428.3(LTBP2):c.3681G>A (p.Pro1227=) rs368214877 0.00005
NM_000428.3(LTBP2):c.1488C>T (p.Gly496=) rs763762642 0.00004
NM_000428.3(LTBP2):c.3354G>A (p.Lys1118=) rs1211195117 0.00001
NM_000428.3(LTBP2):c.2152+8_2152+10del rs534909531
NM_000428.3(LTBP2):c.2538C>T (p.Asp846=)
NM_000428.3(LTBP2):c.4138G>C (p.Asp1380His) rs145811412
NM_000428.3(LTBP2):c.4799G>T (p.Arg1600Leu)
NM_000428.3(LTBP2):c.4878G>A (p.Pro1626=)
NM_000428.3(LTBP2):c.5202G>A (p.Ala1734=)
NM_000428.3(LTBP2):c.5223C>T (p.Asn1741=) rs200772274
NM_000428.3(LTBP2):c.5233_5249del (p.Asn1745fs)
NM_000428.3(LTBP2):c.660G>A (p.Glu220=) rs764354987
NM_000428.3(LTBP2):c.804_821dup (p.265_270PQSPPA[3]) rs554570575

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