ClinVar Miner

List of variants in gene ACTA2 reported as uncertain significance for cardiovascular disorder

Included ClinVar conditions (1435):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 249
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HGVS dbSNP gnomAD frequency
NM_001613.4(ACTA2):c.*28A>T rs143005546 0.00054
NM_001141945.3(ACTA2):c.-23-3831T>C rs552541075 0.00033
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.201G>C (p.Leu67=) rs199773697 0.00010
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.1087G>C (p.Glu363Gln) rs778257647 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.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.129+5G>A rs373402293 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.*43A>G rs886047452 0.00001
NM_001613.4(ACTA2):c.-56C>T rs886047454 0.00001
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.1112T>C (p.Ile371Thr) rs778887472 0.00001
NM_001613.4(ACTA2):c.13G>C (p.Glu5Gln) rs886047453 0.00001
NM_001613.4(ACTA2):c.175G>A (p.Glu59Lys) rs1306745024 0.00001
NM_001613.4(ACTA2):c.203C>T (p.Thr68Ile) rs1060500132 0.00001
NM_001613.4(ACTA2):c.247G>A (p.Asp83Asn) rs794728023 0.00001
NM_001613.4(ACTA2):c.258+5G>T rs1304133915 0.00001
NM_001613.4(ACTA2):c.258+6G>A rs1415012145 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.310C>T (p.Pro104Ser) rs1156640249 0.00001
NM_001613.4(ACTA2):c.446G>A (p.Arg149His) rs794728025 0.00001
NM_001613.4(ACTA2):c.460G>A (p.Val154Met) rs1477551716 0.00001
NM_001613.4(ACTA2):c.553C>T (p.Arg185Ter) rs772473154 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.623G>A (p.Arg208His) rs1057521703 0.00001
NM_001613.4(ACTA2):c.689C>G (p.Ala230Gly) rs757461793 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.727G>A (p.Glu243Lys) rs1223323843 0.00001
NM_001613.4(ACTA2):c.748A>C (p.Ile250Leu) rs755463167 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.808+14G>A rs774120023 0.00001
NM_001613.4(ACTA2):c.896A>G (p.Asn299Ser) rs886038946 0.00001
NM_001613.4(ACTA2):c.995T>C (p.Ile332Thr) rs1314144330 0.00001
NC_000010.11:g.(?_88935213)_(88948940_?)dup
NM_001141945.3(ACTA2):c.-23-3850C>G rs1846074147
NM_001141945.3(ACTA2):c.-23-3869A>G rs886047455
NM_001613.4(ACTA2):c.*104C>G rs956182522
NM_001613.4(ACTA2):c.*105G>T rs149059995
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.1006G>C (p.Glu336Gln) rs1564641192
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.1020dup (p.Val341fs)
NM_001613.4(ACTA2):c.104C>A (p.Ser35Tyr) rs1845999816
NM_001613.4(ACTA2):c.1051_1052del (p.Leu351fs) rs1845712598
NM_001613.4(ACTA2):c.1058C>A (p.Thr353Asn)
NM_001613.4(ACTA2):c.1058C>T (p.Thr353Ile)
NM_001613.4(ACTA2):c.1066C>T (p.Gln356Ter) rs1845712306
NM_001613.4(ACTA2):c.1067A>G (p.Gln356Arg)
NM_001613.4(ACTA2):c.106A>G (p.Ile36Val) rs1845999767
NM_001613.4(ACTA2):c.1072T>C (p.Trp358Arg)
NM_001613.4(ACTA2):c.1084C>T (p.Gln362Ter) rs2133237845
NM_001613.4(ACTA2):c.1100C>T (p.Ala367Val) rs1589388776
NM_001613.4(ACTA2):c.1102G>A (p.Gly368Arg) rs1845711244
NM_001613.4(ACTA2):c.1102G>T (p.Gly368Trp)
NM_001613.4(ACTA2):c.1109C>A (p.Ser370Tyr)
NM_001613.4(ACTA2):c.1112T>A (p.Ile371Asn) rs778887472
NM_001613.4(ACTA2):c.1121G>A (p.Arg374His) rs1370988055
NM_001613.4(ACTA2):c.1126del (p.Cys376fs) rs1845710478
NM_001613.4(ACTA2):c.1132T>C (p.Ter378Gln) rs878854465
NM_001613.4(ACTA2):c.124C>T (p.His42Tyr)
NM_001613.4(ACTA2):c.129+4A>G rs1390177518
NM_001613.4(ACTA2):c.134T>C (p.Val45Ala) rs1554841848
NM_001613.4(ACTA2):c.136A>G (p.Met46Val) rs2133270221
NM_001613.4(ACTA2):c.137TGG[1] (p.Val47del)
NM_001613.4(ACTA2):c.139G>A (p.Val47Met) rs1181233032
NM_001613.4(ACTA2):c.13G>A (p.Glu5Lys)
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.148G>A (p.Gly50Arg)
NM_001613.4(ACTA2):c.14A>C (p.Glu5Ala) rs1846001785
NM_001613.4(ACTA2):c.152A>C (p.Gln51Pro)
NM_001613.4(ACTA2):c.154A>G (p.Lys52Glu) rs1589399071
NM_001613.4(ACTA2):c.166G>A (p.Val56Met)
NM_001613.4(ACTA2):c.169G>C (p.Gly57Arg) rs1845970518
NM_001613.4(ACTA2):c.170G>T (p.Gly57Val) rs1564647168
NM_001613.4(ACTA2):c.179C>G (p.Ala60Gly)
NM_001613.4(ACTA2):c.196A>C (p.Ile66Leu) rs1554841834
NM_001613.4(ACTA2):c.206T>A (p.Leu69Gln)
NM_001613.4(ACTA2):c.20G>A (p.Ser7Asn)
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.24T>G (p.Thr8=) rs1589400483
NM_001613.4(ACTA2):c.251T>C (p.Met84Thr) rs1589398956
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.258+4T>C
NM_001613.4(ACTA2):c.259-1G>A rs1210919054
NM_001613.4(ACTA2):c.259-1G>C
NM_001613.4(ACTA2):c.262T>C (p.Trp88Arg) rs2133261529
NM_001613.4(ACTA2):c.280A>G (p.Asn94Asp)
NM_001613.4(ACTA2):c.283G>A (p.Glu95Lys) rs1064796442
NM_001613.4(ACTA2):c.284A>G (p.Glu95Gly)
NM_001613.4(ACTA2):c.290G>A (p.Arg97His)
NM_001613.4(ACTA2):c.290G>C (p.Arg97Pro)
NM_001613.4(ACTA2):c.305A>C (p.Glu102Ala)
NM_001613.4(ACTA2):c.323C>T (p.Thr108Met) rs886038789
NM_001613.4(ACTA2):c.337A>G (p.Asn113Asp)
NM_001613.4(ACTA2):c.338A>G (p.Asn113Ser) rs397516680
NM_001613.4(ACTA2):c.345G>C (p.Lys115Asn) rs1845899710
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.355G>C (p.Glu119Gln) rs867537284
NM_001613.4(ACTA2):c.367C>T (p.Gln123Ter) rs1845899288
NM_001613.4(ACTA2):c.369+4_369+7del rs1845898977
NM_001613.4(ACTA2):c.369+5G>A
NM_001613.4(ACTA2):c.36T>A (p.Cys12Ter)
NM_001613.4(ACTA2):c.370-14G>A
NM_001613.4(ACTA2):c.374T>A (p.Met125Lys) rs2133256518
NM_001613.4(ACTA2):c.379G>C (p.Glu127Gln)
NM_001613.4(ACTA2):c.3G>A (p.Met1Ile)
NM_001613.4(ACTA2):c.404A>G (p.Tyr135Cys) rs2133256406
NM_001613.4(ACTA2):c.406G>A (p.Val136Met)
NM_001613.4(ACTA2):c.406G>T (p.Val136Leu) rs1845859956
NM_001613.4(ACTA2):c.410C>T (p.Ala137Val) rs1060500133
NM_001613.4(ACTA2):c.412A>G (p.Ile138Val)
NM_001613.4(ACTA2):c.419C>T (p.Ala140Val) rs397516683
NM_001613.4(ACTA2):c.452C>A (p.Thr151Asn) rs1554841360
NM_001613.4(ACTA2):c.454+1G>T
NM_001613.4(ACTA2):c.454+3A>G
NM_001613.4(ACTA2):c.454+5G>A rs1564644761
NM_001613.4(ACTA2):c.455-3C>A
NM_001613.4(ACTA2):c.455-9G>T rs1845849136
NM_001613.4(ACTA2):c.455G>A (p.Gly152Asp) rs1589394206
NM_001613.4(ACTA2):c.456C>T (p.Gly152=) rs1845848773
NM_001613.4(ACTA2):c.461T>C (p.Val154Ala) rs1554841298
NM_001613.4(ACTA2):c.466G>C (p.Asp156His)
NM_001613.4(ACTA2):c.478G>A (p.Gly160Ser) rs794728026
NM_001613.4(ACTA2):c.481G>A (p.Val161Ile)
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.493G>A (p.Val165Ile)
NM_001613.4(ACTA2):c.4T>A (p.Cys2Ser) rs1846002030
NM_001613.4(ACTA2):c.505G>A (p.Glu169Lys)
NM_001613.4(ACTA2):c.511T>A (p.Tyr171Asn) rs2133254874
NM_001613.4(ACTA2):c.512A>G (p.Tyr171Cys) rs1845846497
NM_001613.4(ACTA2):c.520C>T (p.Pro174Ser)
NM_001613.4(ACTA2):c.523del (p.His175fs)
NM_001613.4(ACTA2):c.533T>C (p.Met178Thr)
NM_001613.4(ACTA2):c.548C>G (p.Ala183Gly)
NM_001613.4(ACTA2):c.553C>G (p.Arg185Gly) rs772473154
NM_001613.4(ACTA2):c.563C>T (p.Thr188Ile)
NM_001613.4(ACTA2):c.56G>C (p.Cys19Ser)
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.60G>C (p.Lys20Asn)
NM_001613.4(ACTA2):c.613A>G (p.Thr205Ala)
NM_001613.4(ACTA2):c.615T>C (p.Thr205=) rs1589393906
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.632T>A (p.Val211Asp) rs2133250741
NM_001613.4(ACTA2):c.641T>C (p.Ile214Thr) rs1845812659
NM_001613.4(ACTA2):c.644del (p.Lys215fs)
NM_001613.4(ACTA2):c.645G>A (p.Lys215=) rs1053760032
NM_001613.4(ACTA2):c.649A>G (p.Lys217Glu) rs2133250689
NM_001613.4(ACTA2):c.64G>A (p.Gly22Ser) rs756496192
NM_001613.4(ACTA2):c.653T>G (p.Leu218Arg)
NM_001613.4(ACTA2):c.656_657del (p.Cys219fs) rs1845812292
NM_001613.4(ACTA2):c.676G>A (p.Glu226Lys) rs2133250624
NM_001613.4(ACTA2):c.677A>C (p.Glu226Ala)
NM_001613.4(ACTA2):c.678A>C (p.Glu226Asp)
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.710C>A (p.Ser237Tyr)
NM_001613.4(ACTA2):c.720G>C (p.Lys240Asn) rs727502878
NM_001613.4(ACTA2):c.733C>G (p.Pro245Ala)
NM_001613.4(ACTA2):c.739G>A (p.Gly247Arg) rs1845810587
NM_001613.4(ACTA2):c.73G>A (p.Gly25Arg) rs1554841985
NM_001613.4(ACTA2):c.748A>G (p.Ile250Val)
NM_001613.4(ACTA2):c.749T>C (p.Ile250Thr)
NM_001613.4(ACTA2):c.757G>A (p.Gly253Arg)
NM_001613.4(ACTA2):c.757G>C (p.Gly253Arg) rs1252359045
NM_001613.4(ACTA2):c.758G>A (p.Gly253Glu) rs1845810106
NM_001613.4(ACTA2):c.758G>T (p.Gly253Val) rs1845810106
NM_001613.4(ACTA2):c.763G>A (p.Glu255Lys) rs794728027
NM_001613.4(ACTA2):c.76G>C (p.Asp26His) rs1438979811
NM_001613.4(ACTA2):c.782A>G (p.Glu261Gly)
NM_001613.4(ACTA2):c.78C>A (p.Asp26Glu) rs141538225
NM_001613.4(ACTA2):c.79G>A (p.Asp27Asn) rs794728020
NM_001613.4(ACTA2):c.808+5G>A rs2133250150
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.814G>C (p.Glu272Gln) rs1845781818
NM_001613.4(ACTA2):c.814G>T (p.Glu272Ter) rs1845781818
NM_001613.4(ACTA2):c.815A>G (p.Glu272Gly) rs1554840992
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.860G>A (p.Cys287Tyr)
NM_001613.4(ACTA2):c.866T>A (p.Ile289Asn) rs1554840984
NM_001613.4(ACTA2):c.868G>A (p.Asp290Asn) rs2133246485
NM_001613.4(ACTA2):c.873C>G (p.Ile291Met) rs1233218233
NM_001613.4(ACTA2):c.883C>A (p.Leu295Ile)
NM_001613.4(ACTA2):c.883C>G (p.Leu295Val)
NM_001613.4(ACTA2):c.88A>T (p.Arg30Trp) rs1564647905
NM_001613.4(ACTA2):c.898G>A (p.Val300Ile) rs1589391505
NM_001613.4(ACTA2):c.906del (p.Gly304fs) rs1564642714
NM_001613.4(ACTA2):c.910G>A (p.Gly304Ser)
NM_001613.4(ACTA2):c.911G>A (p.Gly304Asp) rs1845779514
NM_001613.4(ACTA2):c.914C>T (p.Thr305Ile)
NM_001613.4(ACTA2):c.916A>G (p.Thr306Ala) rs1064796445
NM_001613.4(ACTA2):c.917C>A (p.Thr306Asn)
NM_001613.4(ACTA2):c.919A>G (p.Met307Val)
NM_001613.4(ACTA2):c.929G>A (p.Gly310Asp)
NM_001613.4(ACTA2):c.92C>T (p.Ala31Val)
NM_001613.4(ACTA2):c.937G>A (p.Asp313Asn) rs201981018
NM_001613.4(ACTA2):c.941G>A (p.Arg314Gln) rs1415888089
NM_001613.4(ACTA2):c.947A>T (p.Gln316Leu) rs1845778165
NM_001613.4(ACTA2):c.949_951del (p.Lys317del)
NM_001613.4(ACTA2):c.952G>A (p.Glu318Lys)
NM_001613.4(ACTA2):c.954G>C (p.Glu318Asp) rs779117107
NM_001613.4(ACTA2):c.962C>G (p.Ala321Gly)
NM_001613.4(ACTA2):c.970C>T (p.Pro324Ser) rs2133245848
NM_001613.4(ACTA2):c.983_985del (p.Lys328del) rs794728033
NM_001613.4(ACTA2):c.989A>C (p.Lys330Thr)
NM_001613.4(ACTA2):c.98dup (p.Ser35fs) rs2133273811
NM_001613.4(ACTA2):c.991-4A>C rs761599964
NM_001613.4(ACTA2):c.994A>G (p.Ile332Val)

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