ClinVar Miner

List of variants studied for Loeys-Dietz syndrome 4 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 109
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003238.6(TGFB2):c.-784A>C rs1557153 0.99928
NM_003238.6(TGFB2):c.-677T>C rs112369231 0.39003
NM_003238.6(TGFB2):c.*747A>C rs991967 0.37303
NM_003238.6(TGFB2):c.*2431C>G rs1046017 0.37219
NM_003238.6(TGFB2):c.*1310C>T rs1418556 0.37003
NM_003238.6(TGFB2):c.*2839G>A rs6704255 0.35183
NM_003238.6(TGFB2):c.*3196C>T rs6683598 0.34937
NM_003238.6(TGFB2):c.*201A>T rs900 0.32524
NM_003238.6(TGFB2):c.-714A>C rs73110310 0.10708
NM_003238.6(TGFB2):c.*1624T>A rs3737977 0.10338
NM_003238.6(TGFB2):c.*1502T>C rs17500758 0.03234
NM_003238.6(TGFB2):c.-1302A>G rs10482718 0.03064
NM_003238.6(TGFB2):c.*39G>A rs11466412 0.02203
NM_003238.6(TGFB2):c.*2188T>C rs17047869 0.02183
NM_003238.6(TGFB2):c.*1443T>A rs60086269 0.01705
NM_003238.6(TGFB2):c.643+7A>C rs7531245 0.01418
NM_003238.6(TGFB2):c.*1128G>A rs56271792 0.01172
NM_003238.6(TGFB2):c.-1016C>T rs11466365 0.01071
NM_003238.6(TGFB2):c.*2564A>G rs77808075 0.01063
NM_003238.6(TGFB2):c.-620G>A rs886045971 0.01029
NM_003238.6(TGFB2):c.*1585C>G rs17047863 0.00958
NM_003238.6(TGFB2):c.-1230G>A rs11466363 0.00928
NM_003238.6(TGFB2):c.*1273T>C rs143593418 0.00586
NM_003238.6(TGFB2):c.-288A>T rs116531760 0.00572
NM_003238.6(TGFB2):c.*969T>C rs187495965 0.00490
NM_003238.6(TGFB2):c.*1684G>C rs192396801 0.00452
NM_003238.6(TGFB2):c.619G>C (p.Val207Leu) rs10482810 0.00359
NM_003238.6(TGFB2):c.272G>A (p.Arg91His) rs10482721 0.00297
NM_003238.6(TGFB2):c.*2269T>C rs193244018 0.00262
NM_003238.6(TGFB2):c.-746G>T rs576053414 0.00259
NM_003238.6(TGFB2):c.-644A>G rs747761067 0.00246
NM_003238.6(TGFB2):c.*1315T>G rs577782618 0.00214
NM_003238.6(TGFB2):c.*1233T>A rs555872587 0.00091
NM_003238.6(TGFB2):c.*720T>C rs544540486 0.00087
NM_003238.6(TGFB2):c.114G>A (p.Glu38=) rs149215818 0.00087
NM_003238.6(TGFB2):c.-338T>A rs148765724 0.00074
NM_003238.6(TGFB2):c.303G>A (p.Lys101=) rs147052890 0.00072
NM_003238.6(TGFB2):c.*2950G>A rs147957308 0.00071
NM_003238.6(TGFB2):c.-5A>T rs200702935 0.00060
NM_003238.6(TGFB2):c.357G>A (p.Pro119=) rs138514914 0.00054
NM_003238.6(TGFB2):c.*135G>A rs61762489 0.00049
NM_003238.6(TGFB2):c.356C>T (p.Pro119Leu) rs149533093 0.00047
NM_003238.6(TGFB2):c.*2053G>A rs530767727 0.00039
NM_003238.6(TGFB2):c.*2496A>G rs745522168 0.00029
NM_003238.6(TGFB2):c.-96C>A rs1004111898 0.00029
NM_003238.6(TGFB2):c.*45A>G rs769232186 0.00024
NM_003238.6(TGFB2):c.*2108G>A rs184256338 0.00018
NM_003238.6(TGFB2):c.*1338T>A rs574858097 0.00013
NM_003238.6(TGFB2):c.*589C>A rs886045981 0.00010
NM_003238.6(TGFB2):c.*1428T>C rs770610828 0.00009
NM_003238.6(TGFB2):c.*2352T>G rs537275941 0.00009
NM_003238.6(TGFB2):c.*1271A>G rs572446864 0.00007
NM_003238.6(TGFB2):c.*1034A>C rs932331054 0.00006
NM_003238.6(TGFB2):c.*1229T>C rs781757001 0.00006
NM_003238.6(TGFB2):c.*3193A>G rs1161476569 0.00006
NM_003238.6(TGFB2):c.*972A>C rs565195408 0.00006
NM_003238.6(TGFB2):c.-1249G>A rs1002933360 0.00005
NM_003238.6(TGFB2):c.*1389C>T rs528922293 0.00004
NM_003238.6(TGFB2):c.*2007C>T rs1007087694 0.00004
NM_003238.6(TGFB2):c.*2089A>C rs886045988 0.00004
NM_003238.6(TGFB2):c.-569T>C rs886045972 0.00003
NM_003238.6(TGFB2):c.-679G>A rs886045964 0.00003
NM_003238.6(TGFB2):c.-682C>G rs886045963 0.00003
NM_003238.6(TGFB2):c.-794T>C rs886045960 0.00003
NM_003238.6(TGFB2):c.*2509G>T rs967223935 0.00002
NM_003238.6(TGFB2):c.1087-13T>G rs374394434 0.00002
NM_003238.6(TGFB2):c.798T>A (p.Thr266=) rs376354795 0.00002
NM_003238.6(TGFB2):c.*1615T>C rs886045987 0.00001
NM_003238.6(TGFB2):c.*1871C>T rs1009327040 0.00001
NM_003238.6(TGFB2):c.*193A>C rs1413240885 0.00001
NM_003238.6(TGFB2):c.*489A>G rs558071814 0.00001
NM_003238.6(TGFB2):c.*962A>G rs886045984 0.00001
NM_003238.6(TGFB2):c.-1153G>T rs886045959 0.00001
NM_003238.6(TGFB2):c.-540A>T rs868385461 0.00001
NM_003238.6(TGFB2):c.-616G>A rs1018085683 0.00001
NM_003238.6(TGFB2):c.-683C>A rs886045962 0.00001
NM_003238.6(TGFB2):c.1181T>C (p.Ile394Thr) rs886045980 0.00001
NM_003238.6(TGFB2):c.37C>A (p.His13Asn) rs763918203 0.00001
NM_003238.6(TGFB2):c.52G>A (p.Ala18Thr) rs886045975 0.00001
NM_003238.6(TGFB2):c.589G>A (p.Glu197Lys) rs764028978 0.00001
NM_003238.6(TGFB2):c.773C>T (p.Thr258Ile) rs373352179 0.00001
NM_003238.6(TGFB2):c.918G>A (p.Ala306=) rs767936611 0.00001
NM_003238.6(TGFB2):c.*1198A>G rs556560548
NM_003238.6(TGFB2):c.*1431A>C rs1660199096
NM_003238.6(TGFB2):c.*2008G>A rs12408711
NM_003238.6(TGFB2):c.*21G>T rs778452299
NM_003238.6(TGFB2):c.*2421G>T rs1660233472
NM_003238.6(TGFB2):c.*2617T>C rs886045992
NM_003238.6(TGFB2):c.*2980G>C rs886045993
NM_003238.6(TGFB2):c.*3076G>A rs1660255565
NM_003238.6(TGFB2):c.*3141A>G rs886045994
NM_003238.6(TGFB2):c.*3210C>T rs767736529
NM_003238.6(TGFB2):c.*338C>T rs1660159523
NM_003238.6(TGFB2):c.*772C>T rs886045982
NM_003238.6(TGFB2):c.-101A>G rs1656685944
NM_003238.6(TGFB2):c.-1237G>C rs1656628678
NM_003238.6(TGFB2):c.-1271A>G rs886045958
NM_003238.6(TGFB2):c.-514T>C rs1656669231
NM_003238.6(TGFB2):c.-542C>T rs886045973
NM_003238.6(TGFB2):c.-646G>A rs886045968
NM_003238.6(TGFB2):c.-663C>T rs886045965
NM_003238.6(TGFB2):c.-699A>C rs886045961
NM_003238.6(TGFB2):c.-758G>C rs954024485
NM_003238.6(TGFB2):c.1029C>T (p.Ala343=) rs886045979
NM_003238.6(TGFB2):c.347-10T>A rs1419643875
NM_003238.6(TGFB2):c.510+9C>T rs1481374757
NM_003238.6(TGFB2):c.54G>T (p.Ala18=) rs781126315
NM_003238.6(TGFB2):c.670T>G (p.Leu224Val) rs886045978
NM_003238.6(TGFB2):c.734A>T (p.Glu245Val) rs1659906438

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.