ClinVar Miner

List of variants in gene TGFB3 studied for Familial thoracic aortic aneurysm and aortic dissection

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 190
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003239.5(TGFB3):c.1122C>G (p.Ala374=) rs4252345 0.01156
NM_003239.5(TGFB3):c.*9G>A rs4252346 0.00679
NM_003239.5(TGFB3):c.39C>T (p.Ala13=) rs11466415 0.00461
NM_003239.5(TGFB3):c.744C>A (p.Ile248=) rs45477900 0.00123
NM_003239.5(TGFB3):c.164G>A (p.Ser55Asn) rs143229915 0.00100
NM_003239.5(TGFB3):c.34C>T (p.Leu12=) rs143612445 0.00096
NM_003239.5(TGFB3):c.293C>T (p.Ser98Leu) rs142047577 0.00092
NM_003239.5(TGFB3):c.179C>T (p.Thr60Met) rs4252315 0.00066
NM_003239.5(TGFB3):c.354C>T (p.Asn118=) rs145051522 0.00029
NM_003239.5(TGFB3):c.193G>A (p.Val65Ile) rs201059075 0.00023
NM_003239.5(TGFB3):c.412T>G (p.Ser138Ala) rs201453600 0.00018
NM_003239.5(TGFB3):c.1169A>T (p.Tyr390Phe) rs996297395 0.00013
NM_003239.5(TGFB3):c.88T>C (p.Leu30=) rs3917145 0.00013
NM_003239.5(TGFB3):c.757G>A (p.Val253Met) rs532517095 0.00011
NM_003239.5(TGFB3):c.873G>A (p.Pro291=) rs370006165 0.00010
NM_003239.5(TGFB3):c.558C>T (p.Ile186=) rs138389291 0.00009
NM_003239.5(TGFB3):c.813G>C (p.Lys271Asn) rs147601018 0.00009
NM_003239.5(TGFB3):c.101A>G (p.His34Arg) rs199791687 0.00008
NM_003239.5(TGFB3):c.97G>A (p.Gly33Ser) rs781353815 0.00008
NM_003239.5(TGFB3):c.235C>G (p.Leu79Val) rs371230847 0.00006
NM_003239.5(TGFB3):c.504C>T (p.Ile168=) rs148029842 0.00006
NM_003239.5(TGFB3):c.96C>T (p.Phe32=) rs748977151 0.00006
NM_003239.5(TGFB3):c.559G>A (p.Gly187Ser) rs201063101 0.00005
NM_003239.5(TGFB3):c.188C>A (p.Thr63Asn) rs757664433 0.00004
NM_003239.5(TGFB3):c.192C>T (p.His64=) rs374423962 0.00004
NM_003239.5(TGFB3):c.213C>T (p.Ala71=) rs753250192 0.00004
NM_003239.5(TGFB3):c.288C>T (p.Thr96=) rs201047560 0.00004
NM_003239.5(TGFB3):c.351C>T (p.His117=) rs375232060 0.00004
NM_003239.5(TGFB3):c.387C>T (p.Ser129=) rs749768136 0.00004
NM_003239.5(TGFB3):c.626G>A (p.Arg209His) rs779897294 0.00004
NM_003239.5(TGFB3):c.872C>T (p.Pro291Leu) rs145121701 0.00004
NM_003239.5(TGFB3):c.1135G>A (p.Val379Met) rs757031677 0.00003
NM_003239.5(TGFB3):c.1185C>T (p.Thr395=) rs753453972 0.00003
NM_003239.5(TGFB3):c.591C>T (p.Ala197=) rs375090568 0.00003
NM_003239.5(TGFB3):c.797G>A (p.Arg266His) rs142069844 0.00003
NM_003239.5(TGFB3):c.859C>T (p.Arg287Trp) rs757774610 0.00003
NM_003239.5(TGFB3):c.948T>C (p.Cys316=) rs1364994786 0.00003
NM_003239.5(TGFB3):c.1134C>T (p.Cys378=) rs780993645 0.00002
NM_003239.5(TGFB3):c.324C>T (p.Phe108=) rs779502039 0.00002
NM_003239.5(TGFB3):c.488G>A (p.Arg163Gln) rs920721092 0.00002
NM_003239.5(TGFB3):c.1054C>T (p.Arg352Cys) rs749485028 0.00001
NM_003239.5(TGFB3):c.1076G>C (p.Ser359Thr) rs1474531974 0.00001
NM_003239.5(TGFB3):c.1079C>T (p.Thr360Met) rs750299821 0.00001
NM_003239.5(TGFB3):c.10C>T (p.His4Tyr) rs997664741 0.00001
NM_003239.5(TGFB3):c.11A>G (p.His4Arg) rs371772819 0.00001
NM_003239.5(TGFB3):c.1230A>G (p.Lys410=) rs373100223 0.00001
NM_003239.5(TGFB3):c.16C>G (p.Gln6Glu) rs367967889 0.00001
NM_003239.5(TGFB3):c.223A>G (p.Ser75Gly) rs778796326 0.00001
NM_003239.5(TGFB3):c.230G>A (p.Arg77Gln) rs1036545575 0.00001
NM_003239.5(TGFB3):c.289G>A (p.Glu97Lys) rs769627183 0.00001
NM_003239.5(TGFB3):c.294G>A (p.Ser98=) rs778214495 0.00001
NM_003239.5(TGFB3):c.339G>A (p.Gly113=) rs886050798 0.00001
NM_003239.5(TGFB3):c.357A>G (p.Glu119=) rs748598952 0.00001
NM_003239.5(TGFB3):c.389A>G (p.Lys130Arg) rs780051351 0.00001
NM_003239.5(TGFB3):c.393T>C (p.Val131=) rs1302391555 0.00001
NM_003239.5(TGFB3):c.420G>A (p.Glu140=) rs878854609 0.00001
NM_003239.5(TGFB3):c.443G>A (p.Arg148Gln) rs776388495 0.00001
NM_003239.5(TGFB3):c.463C>T (p.Arg155Trp) rs868258653 0.00001
NM_003239.5(TGFB3):c.471C>G (p.Pro157=) rs768917005 0.00001
NM_003239.5(TGFB3):c.480C>T (p.Ser160=) rs1555360832 0.00001
NM_003239.5(TGFB3):c.487C>T (p.Arg163Trp) rs142601521 0.00001
NM_003239.5(TGFB3):c.580C>T (p.Arg194Trp) rs368004396 0.00001
NM_003239.5(TGFB3):c.612C>T (p.Val204=) rs1000679465 0.00001
NM_003239.5(TGFB3):c.730G>A (p.Glu244Lys) rs1085307755 0.00001
NM_003239.5(TGFB3):c.755-5T>C rs768188445 0.00001
NM_003239.5(TGFB3):c.812A>G (p.Lys271Arg) rs2035183279 0.00001
NM_003239.5(TGFB3):c.82A>C (p.Thr28Pro) rs564013964 0.00001
NM_003239.5(TGFB3):c.840C>T (p.Leu280=) rs746293134 0.00001
NM_003239.5(TGFB3):c.878A>C (p.Gln293Pro) rs759234781 0.00001
NM_003239.5(TGFB3):c.914A>G (p.Asn305Ser) rs369281541 0.00001
NM_003239.5(TGFB3):c.927-4G>A rs201637508 0.00001
NM_003239.5(TGFB3):c.94T>A (p.Phe32Ile) rs1194816649 0.00001
NM_003239.5(TGFB3):c.965T>C (p.Ile322Thr) rs762643638 0.00001
NM_003239.5(TGFB3):c.-1C>T
NM_003239.5(TGFB3):c.1001A>G (p.His334Arg) rs1021920873
NM_003239.5(TGFB3):c.1020T>C (p.Tyr340=)
NM_003239.5(TGFB3):c.1023C>T (p.Ala341=) rs2035149393
NM_003239.5(TGFB3):c.1034C>G (p.Ser345Ter) rs1060502827
NM_003239.5(TGFB3):c.1055G>A (p.Arg352His) rs755894337
NM_003239.5(TGFB3):c.107A>C (p.Lys36Thr)
NM_003239.5(TGFB3):c.107AGA[2] (p.Lys38del) rs1257515732
NM_003239.5(TGFB3):c.1080G>A (p.Thr360=) rs1555360212
NM_003239.5(TGFB3):c.1080G>C (p.Thr360=) rs1555360212
NM_003239.5(TGFB3):c.1089A>G (p.Gly363=)
NM_003239.5(TGFB3):c.109A>T (p.Lys37Ter) rs2035418540
NM_003239.5(TGFB3):c.1102_1105del (p.Leu368fs) rs1555360047
NM_003239.5(TGFB3):c.1108C>G (p.Pro370Ala) rs1555360046
NM_003239.5(TGFB3):c.1117T>C (p.Ser373Pro)
NM_003239.5(TGFB3):c.1124C>T (p.Ser375Leu) rs780254258
NM_003239.5(TGFB3):c.1138C>T (p.Pro380Ser) rs1555360033
NM_003239.5(TGFB3):c.1143G>T (p.Gln381His) rs893375581
NM_003239.5(TGFB3):c.1150G>C (p.Glu384Gln)
NM_003239.5(TGFB3):c.1155C>G (p.Pro385=)
NM_003239.5(TGFB3):c.1179G>A (p.Gly393=) rs1555360030
NM_003239.5(TGFB3):c.117G>A (p.Arg39=)
NM_003239.5(TGFB3):c.1182G>A (p.Arg394=)
NM_003239.5(TGFB3):c.1185C>A (p.Thr395=)
NM_003239.5(TGFB3):c.1188C>A (p.Pro396=)
NM_003239.5(TGFB3):c.1188dup (p.Lys397fs)
NM_003239.5(TGFB3):c.1200G>A (p.Gln400=)
NM_003239.5(TGFB3):c.1203C>G (p.Leu401=)
NM_003239.5(TGFB3):c.1208A>G (p.Asn403Ser)
NM_003239.5(TGFB3):c.1219A>G (p.Lys407Glu) rs1248127840
NM_003239.5(TGFB3):c.1221G>C (p.Lys407Asn)
NM_003239.5(TGFB3):c.1231T>G (p.Cys411Gly)
NM_003239.5(TGFB3):c.133G>A (p.Gly45Arg)
NM_003239.5(TGFB3):c.154A>T (p.Arg52Trp) rs1441479444
NM_003239.5(TGFB3):c.165C>T (p.Ser55=)
NM_003239.5(TGFB3):c.171T>C (p.Pro57=) rs768225719
NM_003239.5(TGFB3):c.176C>T (p.Pro59Leu) rs1594792447
NM_003239.5(TGFB3):c.188C>T (p.Thr63Ile)
NM_003239.5(TGFB3):c.194T>C (p.Val65Ala)
NM_003239.5(TGFB3):c.200A>G (p.Tyr67Cys)
NM_003239.5(TGFB3):c.221A>G (p.Asn74Ser) rs1279947435
NM_003239.5(TGFB3):c.229C>T (p.Arg77Trp) rs150817760
NM_003239.5(TGFB3):c.275C>A (p.Thr92Asn)
NM_003239.5(TGFB3):c.281A>G (p.Glu94Gly)
NM_003239.5(TGFB3):c.294G>C (p.Ser98=)
NM_003239.5(TGFB3):c.310G>T (p.Glu104Ter)
NM_003239.5(TGFB3):c.323T>C (p.Phe108Ser) rs1555361384
NM_003239.5(TGFB3):c.325G>A (p.Asp109Asn) rs986180095
NM_003239.5(TGFB3):c.336G>A (p.Gln112=)
NM_003239.5(TGFB3):c.338G>A (p.Gly113Glu) rs1555361380
NM_003239.5(TGFB3):c.351C>G (p.His117Gln)
NM_003239.5(TGFB3):c.353-4C>G
NM_003239.5(TGFB3):c.361G>C (p.Ala121Pro)
NM_003239.5(TGFB3):c.395T>C (p.Phe132Ser) rs1555360876
NM_003239.5(TGFB3):c.397C>T (p.Arg133Cys)
NM_003239.5(TGFB3):c.398G>A (p.Arg133His) rs761890018
NM_003239.5(TGFB3):c.416T>C (p.Val139Ala) rs1422804503
NM_003239.5(TGFB3):c.431C>A (p.Thr144Asn) rs1594788076
NM_003239.5(TGFB3):c.436C>A (p.Leu146Ile)
NM_003239.5(TGFB3):c.442C>T (p.Arg148Ter) rs1057523647
NM_003239.5(TGFB3):c.459C>T (p.Val153=)
NM_003239.5(TGFB3):c.48C>G (p.Asn16Lys)
NM_003239.5(TGFB3):c.498G>A (p.Gln166=) rs886050796
NM_003239.5(TGFB3):c.504C>G (p.Ile168Met) rs148029842
NM_003239.5(TGFB3):c.505G>A (p.Glu169Lys) rs1555360808
NM_003239.5(TGFB3):c.50T>G (p.Phe17Cys)
NM_003239.5(TGFB3):c.525G>C (p.Arg175=)
NM_003239.5(TGFB3):c.548A>G (p.Gln183Arg)
NM_003239.5(TGFB3):c.557T>G (p.Ile186Ser) rs763289805
NM_003239.5(TGFB3):c.55A>G (p.Thr19Ala)
NM_003239.5(TGFB3):c.57G>A (p.Thr19=)
NM_003239.5(TGFB3):c.581G>C (p.Arg194Pro) rs760707107
NM_003239.5(TGFB3):c.583G>T (p.Gly195Cys)
NM_003239.5(TGFB3):c.626G>C (p.Arg209Pro)
NM_003239.5(TGFB3):c.650C>G (p.Ser217Cys)
NM_003239.5(TGFB3):c.65T>A (p.Leu22His)
NM_003239.5(TGFB3):c.68C>G (p.Ser23Cys)
NM_003239.5(TGFB3):c.696dup (p.Gln233fs)
NM_003239.5(TGFB3):c.698A>T (p.Gln233Leu) rs1349938834
NM_003239.5(TGFB3):c.704A>G (p.Asn235Ser)
NM_003239.5(TGFB3):c.727C>A (p.His243Asn) rs1045402283
NM_003239.5(TGFB3):c.732G>A (p.Glu244=) rs1555360497
NM_003239.5(TGFB3):c.754+5C>T rs754211381
NM_003239.5(TGFB3):c.755-5_755-3del
NM_003239.5(TGFB3):c.756C>T (p.Gly252=) rs369435862
NM_003239.5(TGFB3):c.764A>G (p.Asn255Ser)
NM_003239.5(TGFB3):c.766G>A (p.Glu256Lys)
NM_003239.5(TGFB3):c.778G>A (p.Gly260Ser)
NM_003239.5(TGFB3):c.782G>C (p.Arg261Pro) rs547264290
NM_003239.5(TGFB3):c.797G>T (p.Arg266Leu) rs142069844
NM_003239.5(TGFB3):c.816T>A (p.Asp272Glu)
NM_003239.5(TGFB3):c.821A>T (p.His274Leu)
NM_003239.5(TGFB3):c.830_832del (p.His277del) rs1555360376
NM_003239.5(TGFB3):c.838C>T (p.Leu280Phe)
NM_003239.5(TGFB3):c.854C>G (p.Pro285Arg)
NM_003239.5(TGFB3):c.860G>A (p.Arg287Gln)
NM_003239.5(TGFB3):c.865G>A (p.Asp289Asn)
NM_003239.5(TGFB3):c.882G>C (p.Gly294=)
NM_003239.5(TGFB3):c.884dup (p.Gln296fs)
NM_003239.5(TGFB3):c.886_893dup (p.Lys298fs) rs1555360368
NM_003239.5(TGFB3):c.898C>T (p.Arg300Trp) rs796051885
NM_003239.5(TGFB3):c.921C>T (p.Cys307=) rs575379914
NM_003239.5(TGFB3):c.926G>A (p.Arg309His) rs1057524768
NM_003239.5(TGFB3):c.946T>C (p.Cys316Arg) rs2035150933
NM_003239.5(TGFB3):c.952C>T (p.Arg318Cys) rs2140236263
NM_003239.5(TGFB3):c.953G>A (p.Arg318His)
NM_003239.5(TGFB3):c.954C>A (p.Arg318=)
NM_003239.5(TGFB3):c.956C>T (p.Pro319Leu) rs1595337739
NM_003239.5(TGFB3):c.964A>G (p.Ile322Val) rs1555360234
NM_003239.5(TGFB3):c.96C>A (p.Phe32Leu) rs748977151
NM_003239.5(TGFB3):c.973C>T (p.Arg325Ter) rs1555360229
NM_003239.5(TGFB3):c.974G>A (p.Arg325Gln) rs771391164
NM_003239.5(TGFB3):c.974G>T (p.Arg325Leu) rs771391164
NM_003239.5(TGFB3):c.979G>T (p.Asp327Tyr) rs747427366
NM_003239.5(TGFB3):c.985G>T (p.Gly329Cys) rs2035150012
NM_003239.5(TGFB3):c.986G>A (p.Gly329Asp)
NM_003239.5(TGFB3):c.995G>T (p.Trp332Leu) rs1555360218

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.