ClinVar Miner

List of variants reported as likely benign for Loeys-Dietz syndrome by Illumina Clinical Services Laboratory,Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 141
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HGVS dbSNP
NM_003238.5(TGFB2):c.*1128G>A rs56271792
NM_003238.5(TGFB2):c.*1233del rs532376886
NM_003238.5(TGFB2):c.*1273T>C rs143593418
NM_003238.5(TGFB2):c.*1315T>G rs577782618
NM_003238.5(TGFB2):c.*1338T>A rs574858097
NM_003238.5(TGFB2):c.*135G>A rs61762489
NM_003238.5(TGFB2):c.*1502T>C rs17500758
NM_003238.5(TGFB2):c.*1684G>C rs192396801
NM_003238.5(TGFB2):c.*2053G>A rs530767727
NM_003238.5(TGFB2):c.*2108G>A rs184256338
NM_003238.5(TGFB2):c.*2188T>C rs17047869
NM_003238.5(TGFB2):c.*2269T>C rs193244018
NM_003238.5(TGFB2):c.*2564A>G rs77808075
NM_003238.5(TGFB2):c.*2950G>A rs147957308
NM_003238.5(TGFB2):c.*39G>A rs11466412
NM_003238.5(TGFB2):c.*720T>C rs544540486
NM_003238.5(TGFB2):c.-1016C>T rs11466365
NM_003238.5(TGFB2):c.-288A>T rs116531760
NM_003238.5(TGFB2):c.-338T>A rs148765724
NM_003238.5(TGFB2):c.-45del rs200186989
NM_003238.5(TGFB2):c.-5A>T rs200702935
NM_003238.5(TGFB2):c.-644_-643AC[11] rs151329324
NM_003238.5(TGFB2):c.114G>A (p.Glu38=) rs149215818
NM_003238.5(TGFB2):c.272G>A (p.Arg91His) rs10482721
NM_003238.5(TGFB2):c.356C>T (p.Pro119Leu) rs149533093
NM_003238.5(TGFB2):c.357G>A (p.Pro119=) rs138514914
NM_003238.5(TGFB2):c.619G>C (p.Val207Leu) rs10482810
NM_003242.5(TGFBR2):c.-302A>G rs138010137
NM_003242.6(TGFBR2):c.*105G>A rs149112005
NM_003242.6(TGFBR2):c.*1075C>T rs544093849
NM_003242.6(TGFBR2):c.*1285A>T rs574876197
NM_003242.6(TGFBR2):c.*1354C>T rs11466532
NM_003242.6(TGFBR2):c.*149A>T rs143024112
NM_003242.6(TGFBR2):c.*1507A>G rs139938413
NM_003242.6(TGFBR2):c.*1682A>G rs17026341
NM_003242.6(TGFBR2):c.*1815C>T rs146296952
NM_003242.6(TGFBR2):c.*1833A>C rs1803446
NM_003242.6(TGFBR2):c.*1880G>A rs11466534
NM_003242.6(TGFBR2):c.*1886G>T rs11466535
NM_003242.6(TGFBR2):c.*2066G>A rs566913021
NM_003242.6(TGFBR2):c.*2483T>G rs79535432
NM_003242.6(TGFBR2):c.*312A>T rs576840706
NM_003242.6(TGFBR2):c.*330C>A rs304840
NM_003242.6(TGFBR2):c.*352A>G rs565524213
NM_003242.6(TGFBR2):c.*443A>G rs188599299
NM_003242.6(TGFBR2):c.*599C>A rs79755385
NM_003242.6(TGFBR2):c.*835C>A rs17026332
NM_003242.6(TGFBR2):c.*848C>T rs17026336
NM_003242.6(TGFBR2):c.*858C>T rs142745018
NM_003242.6(TGFBR2):c.*859G>A rs548242538
NM_003242.6(TGFBR2):c.*988C>T rs138036906
NM_003242.6(TGFBR2):c.1042C>T (p.Arg348Cys) rs144701411
NM_003242.6(TGFBR2):c.1062C>T (p.Leu354=) rs113194608
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile) rs35719192
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met) rs35766612
NM_003242.6(TGFBR2):c.1208G>A (p.Arg403His) rs143095746
NM_003242.6(TGFBR2):c.1525-8C>T rs11466530
NM_003242.6(TGFBR2):c.1602G>A (p.Val534=) rs140818646
NM_003242.6(TGFBR2):c.1657T>A (p.Ser553Thr) rs112215250
NM_003242.6(TGFBR2):c.367A>T (p.Met123Leu) rs768385200
NM_003242.6(TGFBR2):c.571G>A (p.Val191Ile) rs56105708
NM_003242.6(TGFBR2):c.915C>T (p.Leu305=) rs146030104
NM_003242.6(TGFBR2):c.944C>T (p.Thr315Met) rs34833812
NM_003242.6(TGFBR2):c.984C>T (p.His328=) rs193922666
NM_004612.3(TGFBR1):c.575-9dupT rs863223798
NM_004612.4(TGFBR1):c.*1183G>A rs184564501
NM_004612.4(TGFBR1):c.*1428G>C rs11568811
NM_004612.4(TGFBR1):c.*1515G>A rs11568812
NM_004612.4(TGFBR1):c.*1659T>C rs200082162
NM_004612.4(TGFBR1):c.*1710G>A rs200197062
NM_004612.4(TGFBR1):c.*1804A>G rs200656974
NM_004612.4(TGFBR1):c.*2005T>G rs144216869
NM_004612.4(TGFBR1):c.*2086T>G rs148063684
NM_004612.4(TGFBR1):c.*2100T>G rs532530728
NM_004612.4(TGFBR1):c.*2179del rs373576679
NM_004612.4(TGFBR1):c.*2645A>C rs17724567
NM_004612.4(TGFBR1):c.*2685T>G rs145043837
NM_004612.4(TGFBR1):c.*2703G>A rs76392135
NM_004612.4(TGFBR1):c.*3192T>C rs148797981
NM_004612.4(TGFBR1):c.*3261T>C rs117440593
NM_004612.4(TGFBR1):c.*3262C>T rs78385793
NM_004612.4(TGFBR1):c.*3430del rs78078491
NM_004612.4(TGFBR1):c.*360A>G rs145692006
NM_004612.4(TGFBR1):c.*3704A>G rs563433922
NM_004612.4(TGFBR1):c.*3798G>A rs141277814
NM_004612.4(TGFBR1):c.*3830T>C rs186157987
NM_004612.4(TGFBR1):c.*4202A>G rs200206515
NM_004612.4(TGFBR1):c.*4300C>T rs41283642
NM_004612.4(TGFBR1):c.*4356A>G rs201446431
NM_004612.4(TGFBR1):c.*4493G>A rs41274644
NM_004612.4(TGFBR1):c.*4499G>A rs79641064
NM_004612.4(TGFBR1):c.*4565T>C rs138721378
NM_004612.4(TGFBR1):c.*4623G>C rs200806851
NM_004612.4(TGFBR1):c.*4728G>A rs187415138
NM_004612.4(TGFBR1):c.*4809A>T rs185400896
NM_004612.4(TGFBR1):c.*566T>C rs11568808
NM_004612.4(TGFBR1):c.*789G>A rs200428927
NM_004612.4(TGFBR1):c.1032T>C (p.Asn344=) rs192662552
NM_004612.4(TGFBR1):c.1125A>C (p.Thr375=) rs7861780
NM_004612.4(TGFBR1):c.415A>G (p.Ile139Val) rs148176750
NM_004612.4(TGFBR1):c.457G>A (p.Val153Ile) rs56014374
NM_004612.4(TGFBR1):c.528G>A (p.Thr176=) rs190878719
NM_005902.3(SMAD3):c.*4658T>C rs548318946
NM_005902.4(SMAD3):c.*1165A>G rs567052377
NM_005902.4(SMAD3):c.*1181C>T rs72661160
NM_005902.4(SMAD3):c.*1217A>G rs150600147
NM_005902.4(SMAD3):c.*1255A>G rs569581429
NM_005902.4(SMAD3):c.*1325T>C rs139620908
NM_005902.4(SMAD3):c.*1777_*1778insCCT rs369386357
NM_005902.4(SMAD3):c.*1790G>A rs530788405
NM_005902.4(SMAD3):c.*1805T>C rs191114875
NM_005902.4(SMAD3):c.*1880C>T rs144205938
NM_005902.4(SMAD3):c.*2013T>C rs183913368
NM_005902.4(SMAD3):c.*2028T>C rs549152312
NM_005902.4(SMAD3):c.*2229A>G rs188412401
NM_005902.4(SMAD3):c.*2242A>G rs117707762
NM_005902.4(SMAD3):c.*2444A>G rs145102966
NM_005902.4(SMAD3):c.*2547C>T rs72661161
NM_005902.4(SMAD3):c.*291G>A rs146287966
NM_005902.4(SMAD3):c.*2995G>A rs140694679
NM_005902.4(SMAD3):c.*301C>T rs72661159
NM_005902.4(SMAD3):c.*3037C>G rs145645018
NM_005902.4(SMAD3):c.*3129C>T rs886051424
NM_005902.4(SMAD3):c.*318G>A rs79368607
NM_005902.4(SMAD3):c.*419G>T rs78329172
NM_005902.4(SMAD3):c.*4445C>T rs886051434
NM_005902.4(SMAD3):c.*51G>C rs368655036
NM_005902.4(SMAD3):c.*579del rs550707472
NM_005902.4(SMAD3):c.*609A>G rs564556206
NM_005902.4(SMAD3):c.*654A>G rs571689385
NM_005902.4(SMAD3):c.*665T>A rs186841203
NM_005902.4(SMAD3):c.*789A>G rs191679355
NM_005902.4(SMAD3):c.*798G>A rs138327222
NM_005902.4(SMAD3):c.*843G>A rs55970514
NM_005902.4(SMAD3):c.-115C>T rs556470157
NM_005902.4(SMAD3):c.1102C>A (p.Arg368=) rs757106110
NM_005902.4(SMAD3):c.1125C>T (p.Ser375=) rs144245324
NM_005902.4(SMAD3):c.457C>T (p.Leu153=) rs145380987
NM_005902.4(SMAD3):c.508A>G (p.Ile170Val) rs35874463
NM_005902.4(SMAD3):c.66G>A (p.Glu22=) rs187952791
NM_005902.4(SMAD3):c.870C>T (p.Ile290=) rs117185005

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