ClinVar Miner

List of variants in gene ACTA2 studied for Familial thoracic aortic aneurysm and aortic dissection

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 210
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001613.4(ACTA2):c.417G>A (p.Gln139=) rs111265233 0.00305
NM_001613.4(ACTA2):c.*28A>T rs143005546 0.00054
NR_125373.1(ACTA2-AS1):n.690C>T rs367977687 0.00016
NM_001613.4(ACTA2):c.174C>T (p.Asp58=) rs150547139 0.00015
NM_001613.4(ACTA2):c.936C>T (p.Ala312=) rs200213764 0.00015
NM_001613.4(ACTA2):c.606C>T (p.Phe202=) rs143771352 0.00011
NM_001613.4(ACTA2):c.201G>C (p.Leu67=) rs199773697 0.00010
NM_001613.4(ACTA2):c.78C>T (p.Asp26=) rs141538225 0.00010
NM_001613.4(ACTA2):c.807C>T (p.Ile269=) rs112208466 0.00010
NM_001613.4(ACTA2):c.846C>T (p.Asn282=) rs375251378 0.00009
NM_001613.4(ACTA2):c.1047C>T (p.Ala349=) rs111352790 0.00006
NM_001613.4(ACTA2):c.63C>T (p.Ala21=) rs201193926 0.00006
NM_001613.4(ACTA2):c.903A>G (p.Leu301=) rs372824072 0.00006
NM_001613.4(ACTA2):c.216G>A (p.Pro72=) rs181255627 0.00004
NM_001613.4(ACTA2):c.324G>A (p.Thr108=) rs750005327 0.00004
NM_001613.4(ACTA2):c.420G>A (p.Ala140=) rs762567614 0.00004
NM_001613.4(ACTA2):c.607G>A (p.Val203Ile) rs397516684 0.00004
NM_001613.4(ACTA2):c.60G>A (p.Lys20=) rs373232511 0.00004
NM_001613.4(ACTA2):c.1017C>T (p.Tyr339=) rs1418187980 0.00003
NM_001613.4(ACTA2):c.1087G>C (p.Glu363Gln) rs778257647 0.00003
NM_001613.4(ACTA2):c.1092C>T (p.Tyr364=) rs754695149 0.00003
NM_001613.4(ACTA2):c.165C>T (p.Tyr55=) rs747205071 0.00003
NM_001613.4(ACTA2):c.390T>C (p.Asn130=) rs141933412 0.00003
NM_001613.4(ACTA2):c.403T>C (p.Tyr135His) rs751300489 0.00003
NM_001613.4(ACTA2):c.477T>C (p.Asp159=) rs761805696 0.00003
NM_001613.4(ACTA2):c.538C>T (p.Leu180=) rs375204799 0.00003
NM_001613.4(ACTA2):c.648G>A (p.Glu216=) rs775575485 0.00003
NM_001613.4(ACTA2):c.959C>T (p.Thr320Met) rs757656209 0.00003
NM_001613.4(ACTA2):c.977C>A (p.Thr326Asn) rs777832794 0.00003
NM_001613.4(ACTA2):c.1120C>T (p.Arg374Cys) rs757166963 0.00002
NM_001613.4(ACTA2):c.1131C>T (p.Phe377=) rs1062399 0.00002
NM_001613.4(ACTA2):c.129+5G>A rs373402293 0.00002
NM_001613.4(ACTA2):c.246C>T (p.Asp82=) rs1254836237 0.00002
NM_001613.4(ACTA2):c.369+7A>G rs760471677 0.00002
NM_001613.4(ACTA2):c.401T>C (p.Met134Thr) rs181698127 0.00002
NM_001613.4(ACTA2):c.729G>A (p.Glu243=) rs768077621 0.00002
NM_001613.4(ACTA2):c.72T>C (p.Ala24=) rs773996169 0.00002
NM_001613.4(ACTA2):c.960G>A (p.Thr320=) rs752425336 0.00002
NM_001613.4(ACTA2):c.107T>C (p.Ile36Thr) rs772919504 0.00001
NM_001613.4(ACTA2):c.1109C>G (p.Ser370Cys) rs749867078 0.00001
NM_001613.4(ACTA2):c.115C>T (p.Arg39Cys) rs112901682 0.00001
NM_001613.4(ACTA2):c.175G>A (p.Glu59Lys) rs1306745024 0.00001
NM_001613.4(ACTA2):c.234C>T (p.Ile78=) rs373518147 0.00001
NM_001613.4(ACTA2):c.258+6G>A rs1415012145 0.00001
NM_001613.4(ACTA2):c.259-15C>A rs1239079270 0.00001
NM_001613.4(ACTA2):c.259-8C>T rs771519428 0.00001
NM_001613.4(ACTA2):c.281A>G (p.Asn94Ser) rs756569259 0.00001
NM_001613.4(ACTA2):c.296C>G (p.Ala99Gly) rs779757924 0.00001
NM_001613.4(ACTA2):c.303A>G (p.Glu101=) rs757977826 0.00001
NM_001613.4(ACTA2):c.310C>T (p.Pro104Ser) rs1156640249 0.00001
NM_001613.4(ACTA2):c.411T>A (p.Ala137=) rs191977133 0.00001
NM_001613.4(ACTA2):c.445C>T (p.Arg149Cys) rs121434526 0.00001
NM_001613.4(ACTA2):c.446G>A (p.Arg149His) rs794728025 0.00001
NM_001613.4(ACTA2):c.455-11T>C rs765499730 0.00001
NM_001613.4(ACTA2):c.460G>A (p.Val154Met) rs1477551716 0.00001
NM_001613.4(ACTA2):c.51G>C (p.Gly17=) rs1206769832 0.00001
NM_001613.4(ACTA2):c.553C>T (p.Arg185Ter) rs772473154 0.00001
NM_001613.4(ACTA2):c.567C>T (p.Asp189=) rs764571918 0.00001
NM_001613.4(ACTA2):c.579G>A (p.Lys193=) rs772458406 0.00001
NM_001613.4(ACTA2):c.592C>T (p.Arg198Cys) rs772862676 0.00001
NM_001613.4(ACTA2):c.616+6G>A rs1270669606 0.00001
NM_001613.4(ACTA2):c.617-14T>C rs776041033 0.00001
NM_001613.4(ACTA2):c.623G>A (p.Arg208His) rs1057521703 0.00001
NM_001613.4(ACTA2):c.654G>A (p.Leu218=) rs1437442292 0.00001
NM_001613.4(ACTA2):c.689C>G (p.Ala230Gly) rs757461793 0.00001
NM_001613.4(ACTA2):c.696C>T (p.Ala232=) rs749557185 0.00001
NM_001613.4(ACTA2):c.697G>A (p.Ala233Thr) rs777810222 0.00001
NM_001613.4(ACTA2):c.722G>A (p.Ser241Asn) rs756232774 0.00001
NM_001613.4(ACTA2):c.748A>C (p.Ile250Leu) rs755463167 0.00001
NM_001613.4(ACTA2):c.756C>T (p.Ile252=) rs982289637 0.00001
NM_001613.4(ACTA2):c.772C>T (p.Arg258Cys) rs121434528 0.00001
NM_001613.4(ACTA2):c.775del (p.Cys259fs) rs1178695989 0.00001
NM_001613.4(ACTA2):c.784A>G (p.Thr262Ala) rs1382142026 0.00001
NM_001613.4(ACTA2):c.896A>G (p.Asn299Ser) rs886038946 0.00001
NM_001613.4(ACTA2):c.991-6T>C rs1057521471 0.00001
NM_001613.4(ACTA2):c.995T>C (p.Ile332Thr) rs1314144330 0.00001
NM_001141945.3(ACTA2):c.-23-3869A>G rs886047455
NM_001613.4(ACTA2):c.*122T>C rs886047451
NM_001613.4(ACTA2):c.*5C>T rs2133237611
NM_001613.4(ACTA2):c.*6_*38del rs1845709130
NM_001613.4(ACTA2):c.1007A>G (p.Glu336Gly) rs772067065
NM_001613.4(ACTA2):c.1009C>T (p.Arg337Cys) rs1845713745
NM_001613.4(ACTA2):c.1010G>A (p.Arg337His)
NM_001613.4(ACTA2):c.1013A>G (p.Lys338Arg) rs920243723
NM_001613.4(ACTA2):c.1019_1020del (p.Ser340fs) rs794728034
NM_001613.4(ACTA2):c.1023C>T (p.Val341=) rs139352781
NM_001613.4(ACTA2):c.102A>T (p.Pro34=) rs1845999885
NM_001613.4(ACTA2):c.1051_1052del (p.Leu351fs) rs1845712598
NM_001613.4(ACTA2):c.1058C>A (p.Thr353Asn)
NM_001613.4(ACTA2):c.106A>G (p.Ile36Val) rs1845999767
NM_001613.4(ACTA2):c.1089A>G (p.Glu363=) rs1564641128
NM_001613.4(ACTA2):c.1100C>T (p.Ala367Val) rs1589388776
NM_001613.4(ACTA2):c.1132T>C (p.Ter378Gln) rs878854465
NM_001613.4(ACTA2):c.1133A>G (p.Ter378=) rs1845710246
NM_001613.4(ACTA2):c.115C>G (p.Arg39Gly) rs112901682
NM_001613.4(ACTA2):c.116G>A (p.Arg39His) rs794728021
NM_001613.4(ACTA2):c.130-14T>C rs1845971846
NM_001613.4(ACTA2):c.132G>A (p.Gly44=)
NM_001613.4(ACTA2):c.13G>A (p.Glu5Lys)
NM_001613.4(ACTA2):c.141G>A (p.Val47=)
NM_001613.4(ACTA2):c.142G>T (p.Gly48Ter) rs869025351
NM_001613.4(ACTA2):c.143G>A (p.Gly48Glu)
NM_001613.4(ACTA2):c.143G>T (p.Gly48Val)
NM_001613.4(ACTA2):c.146T>A (p.Met49Lys) rs869025352
NM_001613.4(ACTA2):c.146T>C (p.Met49Thr) rs869025352
NM_001613.4(ACTA2):c.14A>C (p.Glu5Ala) rs1846001785
NM_001613.4(ACTA2):c.152A>C (p.Gln51Pro)
NM_001613.4(ACTA2):c.156A>G (p.Lys52=)
NM_001613.4(ACTA2):c.166G>A (p.Val56Met)
NM_001613.4(ACTA2):c.179C>G (p.Ala60Gly)
NM_001613.4(ACTA2):c.204C>T (p.Thr68=) rs1350332195
NM_001613.4(ACTA2):c.206T>A (p.Leu69Gln)
NM_001613.4(ACTA2):c.210G>C (p.Lys70Asn)
NM_001613.4(ACTA2):c.212A>G (p.Tyr71Cys)
NM_001613.4(ACTA2):c.215C>T (p.Pro72Leu) rs1060500134
NM_001613.4(ACTA2):c.223C>A (p.His75Asn) rs2133269905
NM_001613.4(ACTA2):c.229A>G (p.Ile77Val) rs754716869
NM_001613.4(ACTA2):c.246C>G (p.Asp82Glu) rs1254836237
NM_001613.4(ACTA2):c.256A>G (p.Lys86Glu) rs1845968514
NM_001613.4(ACTA2):c.257A>G (p.Lys86Arg) rs1554841831
NM_001613.4(ACTA2):c.259-11C>T rs1759218378
NM_001613.4(ACTA2):c.259-12C>T rs1411318617
NM_001613.4(ACTA2):c.259-1G>A rs1210919054
NM_001613.4(ACTA2):c.259-1G>C
NM_001613.4(ACTA2):c.283G>A (p.Glu95Lys) rs1064796442
NM_001613.4(ACTA2):c.288T>C (p.Leu96=) rs1845900856
NM_001613.4(ACTA2):c.318G>A (p.Leu106=) rs1845900195
NM_001613.4(ACTA2):c.333C>T (p.Pro111=) rs1845899945
NM_001613.4(ACTA2):c.345G>A (p.Lys115=)
NM_001613.4(ACTA2):c.350A>G (p.Asn117Ser) rs2133261250
NM_001613.4(ACTA2):c.352C>T (p.Arg118Trp) rs1845899655
NM_001613.4(ACTA2):c.353G>A (p.Arg118Gln) rs112602953
NM_001613.4(ACTA2):c.374T>A (p.Met125Lys) rs2133256518
NM_001613.4(ACTA2):c.381G>A (p.Glu127=) rs2133256510
NM_001613.4(ACTA2):c.399C>T (p.Ala133=) rs781132665
NM_001613.4(ACTA2):c.419C>T (p.Ala140Val) rs397516683
NM_001613.4(ACTA2):c.435T>C (p.Tyr145=) rs765374178
NM_001613.4(ACTA2):c.441T>C (p.Ser147=)
NM_001613.4(ACTA2):c.453T>C (p.Thr151=) rs1845858890
NM_001613.4(ACTA2):c.454+1G>T
NM_001613.4(ACTA2):c.455-3del rs1409629545
NM_001613.4(ACTA2):c.455-9G>T rs1845849136
NM_001613.4(ACTA2):c.459C>T (p.Ile153=) rs1177449670
NM_001613.4(ACTA2):c.468C>T (p.Asp156=)
NM_001613.4(ACTA2):c.482T>A (p.Val161Asp) rs1589394154
NM_001613.4(ACTA2):c.482T>C (p.Val161Ala) rs1589394154
NM_001613.4(ACTA2):c.495C>T (p.Val165=) rs1253704403
NM_001613.4(ACTA2):c.4T>A (p.Cys2Ser) rs1846002030
NM_001613.4(ACTA2):c.505G>A (p.Glu169Lys)
NM_001613.4(ACTA2):c.510C>T (p.Gly170=)
NM_001613.4(ACTA2):c.520C>T (p.Pro174Ser)
NM_001613.4(ACTA2):c.533T>C (p.Met178Thr)
NM_001613.4(ACTA2):c.536G>A (p.Arg179His) rs387906592
NM_001613.4(ACTA2):c.553C>G (p.Arg185Gly) rs772473154
NM_001613.4(ACTA2):c.574A>G (p.Met192Val) rs761222556
NM_001613.4(ACTA2):c.578A>G (p.Lys193Arg) rs1845843832
NM_001613.4(ACTA2):c.586del (p.Thr196fs) rs1845843384
NM_001613.4(ACTA2):c.591G>T (p.Glu197Asp) rs886038487
NM_001613.4(ACTA2):c.593G>A (p.Arg198His) rs746972765
NM_001613.4(ACTA2):c.60G>C (p.Lys20Asn)
NM_001613.4(ACTA2):c.616+2T>G
NM_001613.4(ACTA2):c.616+5G>C rs1845842113
NM_001613.4(ACTA2):c.61G>T (p.Ala21Ser)
NM_001613.4(ACTA2):c.622C>T (p.Arg208Cys) rs1057523339
NM_001613.4(ACTA2):c.635G>A (p.Arg212Gln) rs397516685
NM_001613.4(ACTA2):c.636G>A (p.Arg212=)
NM_001613.4(ACTA2):c.641T>C (p.Ile214Thr) rs1845812659
NM_001613.4(ACTA2):c.64G>A (p.Gly22Ser) rs756496192
NM_001613.4(ACTA2):c.653T>G (p.Leu218Arg)
NM_001613.4(ACTA2):c.660T>C (p.Tyr220=) rs1845812242
NM_001613.4(ACTA2):c.672C>T (p.Asp224=) rs745719583
NM_001613.4(ACTA2):c.677A>C (p.Glu226Ala)
NM_001613.4(ACTA2):c.688G>A (p.Ala230Thr)
NM_001613.4(ACTA2):c.691A>G (p.Thr231Ala) rs1845811593
NM_001613.4(ACTA2):c.698C>T (p.Ala233Val) rs1845811306
NM_001613.4(ACTA2):c.708C>T (p.Ser236=)
NM_001613.4(ACTA2):c.720G>C (p.Lys240Asn) rs727502878
NM_001613.4(ACTA2):c.739G>A (p.Gly247Arg) rs1845810587
NM_001613.4(ACTA2):c.758G>A (p.Gly253Glu) rs1845810106
NM_001613.4(ACTA2):c.763G>A (p.Glu255Lys) rs794728027
NM_001613.4(ACTA2):c.766C>T (p.Arg256Cys) rs886038852
NM_001613.4(ACTA2):c.767G>A (p.Arg256His) rs766734961
NM_001613.4(ACTA2):c.768T>C (p.Arg256=)
NM_001613.4(ACTA2):c.76G>C (p.Asp26His) rs1438979811
NM_001613.4(ACTA2):c.773G>A (p.Arg258His) rs121434527
NM_001613.4(ACTA2):c.78C>A (p.Asp26Glu) rs141538225
NM_001613.4(ACTA2):c.792C>T (p.Phe264=)
NM_001613.4(ACTA2):c.79G>A (p.Asp27Asn) rs794728020
NM_001613.4(ACTA2):c.804C>T (p.Phe268=) rs1845809015
NM_001613.4(ACTA2):c.808G>A (p.Gly270Arg) rs794728028
NM_001613.4(ACTA2):c.809-15G>C rs1452950850
NM_001613.4(ACTA2):c.809G>A (p.Gly270Glu) rs794728029
NM_001613.4(ACTA2):c.809G>T (p.Gly270Val)
NM_001613.4(ACTA2):c.811A>T (p.Met271Leu) rs2133246684
NM_001613.4(ACTA2):c.815A>G (p.Glu272Gly) rs1554840992
NM_001613.4(ACTA2):c.819T>G (p.Ser273=)
NM_001613.4(ACTA2):c.83C>T (p.Ala28Val) rs886038855
NM_001613.4(ACTA2):c.843del (p.Thr280_Tyr281insTer) rs1845781271
NM_001613.4(ACTA2):c.864T>C (p.Asp288=) rs2133246505
NM_001613.4(ACTA2):c.873C>G (p.Ile291Met) rs1233218233
NM_001613.4(ACTA2):c.883C>G (p.Leu295Val)
NM_001613.4(ACTA2):c.906del (p.Gly304fs) rs1564642714
NM_001613.4(ACTA2):c.911G>A (p.Gly304Asp) rs1845779514
NM_001613.4(ACTA2):c.92C>T (p.Ala31Val)
NM_001613.4(ACTA2):c.940C>T (p.Arg314Ter) rs886038978
NM_001613.4(ACTA2):c.947A>T (p.Gln316Leu) rs1845778165
NM_001613.4(ACTA2):c.951G>A (p.Lys317=)
NM_001613.4(ACTA2):c.957C>T (p.Ile319=)
NM_001613.4(ACTA2):c.964C>T (p.Leu322=) rs1845777231
NM_001613.4(ACTA2):c.991-4A>C rs761599964

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.