ClinVar Miner

List of variants in gene ACTA2 studied for cardiovascular disorder

Included ClinVar conditions (1426):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 440
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HGVS dbSNP gnomAD frequency
NM_001613.4(ACTA2):c.370-19T>C rs714887 0.07944
NM_001613.4(ACTA2):c.455-17G>A rs3816245 0.00636
NM_001613.4(ACTA2):c.417G>A (p.Gln139=) rs111265233 0.00305
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.455-18C>T rs139684702 0.00022
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.129+12T>C rs781402334 0.00007
NM_001613.4(ACTA2):c.1047C>T (p.Ala349=) rs111352790 0.00006
NM_001613.4(ACTA2):c.259-17del rs757055278 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.357G>A (p.Glu119=) rs756754618 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.591G>A (p.Glu197=) rs886038487 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.*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.115C>T (p.Arg39Cys) rs112901682 0.00001
NM_001613.4(ACTA2):c.130-18T>C rs117106176 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.222A>G (p.Glu74=) rs778261886 0.00001
NM_001613.4(ACTA2):c.234C>T (p.Ile78=) rs373518147 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.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.285G>A (p.Glu95=) rs748465638 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.369+10C>A rs1057522148 0.00001
NM_001613.4(ACTA2):c.370-4G>C rs777243762 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.554G>A (p.Arg185Gln) rs1057521105 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.727G>A (p.Glu243Lys) rs1223323843 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.786C>G (p.Thr262=) rs1060503847 0.00001
NM_001613.4(ACTA2):c.808+14G>A rs774120023 0.00001
NM_001613.4(ACTA2):c.809-19G>A rs1364730695 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
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.1023C>T (p.Val341=) rs139352781
NM_001613.4(ACTA2):c.102A>T (p.Pro34=) rs1845999885
NM_001613.4(ACTA2):c.1041C>T (p.Ile347=) rs1589388826
NM_001613.4(ACTA2):c.1044G>C (p.Leu348=)
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.1089A>G (p.Glu363=) rs1564641128
NM_001613.4(ACTA2):c.108T>A (p.Ile36=)
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.1133A>G (p.Ter378=) rs1845710246
NM_001613.4(ACTA2):c.115C>A (p.Arg39Ser) rs112901682
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.124C>T (p.His42Tyr)
NM_001613.4(ACTA2):c.129+12T>A
NM_001613.4(ACTA2):c.129+4A>G rs1390177518
NM_001613.4(ACTA2):c.129+8A>C rs1845999194
NM_001613.4(ACTA2):c.130-12G>A
NM_001613.4(ACTA2):c.130-14T>C rs1845971846
NM_001613.4(ACTA2):c.130-9C>A
NM_001613.4(ACTA2):c.132G>A (p.Gly44=)
NM_001613.4(ACTA2):c.132G>T (p.Gly44=)
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.138G>A (p.Met46Ile) rs878854466
NM_001613.4(ACTA2):c.138G>T (p.Met46Ile) rs878854466
NM_001613.4(ACTA2):c.139G>A (p.Val47Met) rs1181233032
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.145A>G (p.Met49Val) rs397515325
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.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.156A>G (p.Lys52=)
NM_001613.4(ACTA2):c.162C>T (p.Ser54=)
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.198C>T (p.Ile66=) rs2133270008
NM_001613.4(ACTA2):c.204C>T (p.Thr68=) rs1350332195
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.218T>C (p.Ile73Thr)
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.259-11C>A
NM_001613.4(ACTA2):c.259-11C>T rs1759218378
NM_001613.4(ACTA2):c.259-12C>A
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.259-20T>C
NM_001613.4(ACTA2):c.259-20T>G
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.288T>C (p.Leu96=) rs1845900856
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.318G>A (p.Leu106=) rs1845900195
NM_001613.4(ACTA2):c.323C>T (p.Thr108Met) rs886038789
NM_001613.4(ACTA2):c.324G>T (p.Thr108=) rs750005327
NM_001613.4(ACTA2):c.325del (p.Glu109fs) rs2133261333
NM_001613.4(ACTA2):c.333C>T (p.Pro111=) rs1845899945
NM_001613.4(ACTA2):c.337A>G (p.Asn113Asp)
NM_001613.4(ACTA2):c.338A>G (p.Asn113Ser) rs397516680
NM_001613.4(ACTA2):c.339C>T (p.Asn113=)
NM_001613.4(ACTA2):c.340_343del (p.Pro114fs) rs2133261286
NM_001613.4(ACTA2):c.342C>A (p.Pro114=)
NM_001613.4(ACTA2):c.345G>A (p.Lys115=)
NM_001613.4(ACTA2):c.345G>C (p.Lys115Asn) rs1845899710
NM_001613.4(ACTA2):c.348C>T (p.Ala116=) rs2133261262
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.355G>C (p.Glu119Gln) rs867537284
NM_001613.4(ACTA2):c.367C>T (p.Gln123Ter) rs1845899288
NM_001613.4(ACTA2):c.369+11T>C
NM_001613.4(ACTA2):c.369+13C>A
NM_001613.4(ACTA2):c.369+19C>A
NM_001613.4(ACTA2):c.369+1G>C
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.370-11T>C
NM_001613.4(ACTA2):c.370-14G>A
NM_001613.4(ACTA2):c.370-4G>A
NM_001613.4(ACTA2):c.370-4G>T
NM_001613.4(ACTA2):c.374T>A (p.Met125Lys) rs2133256518
NM_001613.4(ACTA2):c.379G>C (p.Glu127Gln)
NM_001613.4(ACTA2):c.381G>A (p.Glu127=) rs2133256510
NM_001613.4(ACTA2):c.399C>G (p.Ala133=) rs781132665
NM_001613.4(ACTA2):c.399C>T (p.Ala133=) rs781132665
NM_001613.4(ACTA2):c.3G>A (p.Met1Ile)
NM_001613.4(ACTA2):c.404A>G (p.Tyr135Cys) rs2133256406
NM_001613.4(ACTA2):c.405T>C (p.Tyr135=)
NM_001613.4(ACTA2):c.406G>A (p.Val136Met)
NM_001613.4(ACTA2):c.406G>T (p.Val136Leu) rs1845859956
NM_001613.4(ACTA2):c.408G>A (p.Val136=)
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.435T>C (p.Tyr145=) rs765374178
NM_001613.4(ACTA2):c.441T>C (p.Ser147=)
NM_001613.4(ACTA2):c.446G>T (p.Arg149Leu) rs794728025
NM_001613.4(ACTA2):c.452C>A (p.Thr151Asn) rs1554841360
NM_001613.4(ACTA2):c.453T>C (p.Thr151=) rs1845858890
NM_001613.4(ACTA2):c.454+14C>A
NM_001613.4(ACTA2):c.454+14C>T
NM_001613.4(ACTA2):c.454+15G>A
NM_001613.4(ACTA2):c.454+17G>T
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.455-18C>G
NM_001613.4(ACTA2):c.455-3C>A
NM_001613.4(ACTA2):c.455-3del rs1409629545
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.459C>T (p.Ile153=) rs1177449670
NM_001613.4(ACTA2):c.461T>C (p.Val154Ala) rs1554841298
NM_001613.4(ACTA2):c.465G>A (p.Leu155=)
NM_001613.4(ACTA2):c.466G>C (p.Asp156His)
NM_001613.4(ACTA2):c.468C>T (p.Asp156=)
NM_001613.4(ACTA2):c.46T>C (p.Ser16Pro) rs1554841990
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.483C>T (p.Val161=)
NM_001613.4(ACTA2):c.492T>C (p.Asn164=) rs1468907232
NM_001613.4(ACTA2):c.493G>A (p.Val165Ile)
NM_001613.4(ACTA2):c.495C>A (p.Val165=) rs1253704403
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.511T>A (p.Tyr171Asn) rs2133254874
NM_001613.4(ACTA2):c.512A>G (p.Tyr171Cys) rs1845846497
NM_001613.4(ACTA2):c.51G>A (p.Gly17=)
NM_001613.4(ACTA2):c.520C>T (p.Pro174Ser)
NM_001613.4(ACTA2):c.522C>T (p.Pro174=)
NM_001613.4(ACTA2):c.523del (p.His175fs)
NM_001613.4(ACTA2):c.533T>C (p.Met178Thr)
NM_001613.4(ACTA2):c.535C>A (p.Arg179Ser) rs886039303
NM_001613.4(ACTA2):c.535C>T (p.Arg179Cys) rs886039303
NM_001613.4(ACTA2):c.536G>A (p.Arg179His) rs387906592
NM_001613.4(ACTA2):c.536G>T (p.Arg179Leu) rs387906592
NM_001613.4(ACTA2):c.548C>G (p.Ala183Gly)
NM_001613.4(ACTA2):c.553C>G (p.Arg185Gly) rs772473154
NM_001613.4(ACTA2):c.55T>C (p.Cys19Arg) rs2133273980
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.583C>T (p.Leu195=)
NM_001613.4(ACTA2):c.586del (p.Thr196fs) rs1845843384
NM_001613.4(ACTA2):c.588T>G (p.Thr196=)
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.611C>T (p.Thr204Ile) rs1057522870
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+10G>A
NM_001613.4(ACTA2):c.616+18T>C
NM_001613.4(ACTA2):c.616+2T>G
NM_001613.4(ACTA2):c.616+5G>C rs1845842113
NM_001613.4(ACTA2):c.616G>A (p.Ala206Thr) rs886042811
NM_001613.4(ACTA2):c.617-12T>C
NM_001613.4(ACTA2):c.618T>C (p.Ala206=)
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.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.644del (p.Lys215fs)
NM_001613.4(ACTA2):c.645G>A (p.Lys215=) rs1053760032
NM_001613.4(ACTA2):c.648G>C (p.Glu216Asp)
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.651A>G (p.Lys217=)
NM_001613.4(ACTA2):c.653T>G (p.Leu218Arg)
NM_001613.4(ACTA2):c.655T>C (p.Cys219Arg)
NM_001613.4(ACTA2):c.656_657del (p.Cys219fs) rs1845812292
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.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.708C>T (p.Ser236=)
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.747G>A (p.Val249=)
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.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.782A>G (p.Glu261Gly)
NM_001613.4(ACTA2):c.786C>T (p.Thr262=) rs1060503847
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.808+13C>T
NM_001613.4(ACTA2):c.808+5G>A rs2133250150
NM_001613.4(ACTA2):c.808+9C>A
NM_001613.4(ACTA2):c.808G>A (p.Gly270Arg) rs794728028
NM_001613.4(ACTA2):c.809-15G>C rs1452950850
NM_001613.4(ACTA2):c.809-20G>A
NM_001613.4(ACTA2):c.809-4C>G
NM_001613.4(ACTA2):c.809-5T>C
NM_001613.4(ACTA2):c.809-9C>G
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.819T>G (p.Ser273=)
NM_001613.4(ACTA2):c.837C>A (p.Thr279=)
NM_001613.4(ACTA2):c.83C>T (p.Ala28Val) rs886038855
NM_001613.4(ACTA2):c.840C>A (p.Thr280=)
NM_001613.4(ACTA2):c.843del (p.Thr280_Tyr281insTer) rs1845781271
NM_001613.4(ACTA2):c.860G>A (p.Cys287Tyr)
NM_001613.4(ACTA2):c.864T>C (p.Asp288=) rs2133246505
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.888T>C (p.Tyr296=)
NM_001613.4(ACTA2):c.88A>C (p.Arg30=) rs1564647905
NM_001613.4(ACTA2):c.88A>T (p.Arg30Trp) rs1564647905
NM_001613.4(ACTA2):c.897T>C (p.Asn299=)
NM_001613.4(ACTA2):c.898G>A (p.Val300Ile) rs1589391505
NM_001613.4(ACTA2):c.900C>G (p.Val300=)
NM_001613.4(ACTA2):c.900C>T (p.Val300=) rs2133246362
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.927T>C (p.Pro309=)
NM_001613.4(ACTA2):c.929G>A (p.Gly310Asp)
NM_001613.4(ACTA2):c.92C>T (p.Ala31Val)
NM_001613.4(ACTA2):c.933T>C (p.Ile311=) rs1845778698
NM_001613.4(ACTA2):c.937G>A (p.Asp313Asn) rs201981018
NM_001613.4(ACTA2):c.940C>T (p.Arg314Ter) rs886038978
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.951G>A (p.Lys317=)
NM_001613.4(ACTA2):c.952G>A (p.Glu318Lys)
NM_001613.4(ACTA2):c.954G>C (p.Glu318Asp) rs779117107
NM_001613.4(ACTA2):c.957C>T (p.Ile319=)
NM_001613.4(ACTA2):c.962C>G (p.Ala321Gly)
NM_001613.4(ACTA2):c.964C>T (p.Leu322=) rs1845777231
NM_001613.4(ACTA2):c.96T>C (p.Val32=)
NM_001613.4(ACTA2):c.970C>T (p.Pro324Ser) rs2133245848
NM_001613.4(ACTA2):c.978C>T (p.Thr326=)
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.990+17del
NM_001613.4(ACTA2):c.991-11T>C
NM_001613.4(ACTA2):c.991-16T>C
NM_001613.4(ACTA2):c.991-17T>G
NM_001613.4(ACTA2):c.991-20T>A
NM_001613.4(ACTA2):c.991-4A>C rs761599964
NM_001613.4(ACTA2):c.991-8A>G rs1564641232
NM_001613.4(ACTA2):c.994A>G (p.Ile332Val)

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