ClinVar Miner

List of variants in gene ACTA2 reported by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 108
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HGVS dbSNP gnomAD frequency
NM_001613.4(ACTA2):c.417G>A (p.Gln139=) rs111265233 0.00305
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.420G>A (p.Ala140=) rs762567614 0.00004
NM_001613.4(ACTA2):c.60G>A (p.Lys20=) rs373232511 0.00004
NM_001613.4(ACTA2):c.1087G>C (p.Glu363Gln) rs778257647 0.00003
NM_001613.4(ACTA2):c.165C>T (p.Tyr55=) rs747205071 0.00003
NM_001613.4(ACTA2):c.403T>C (p.Tyr135His) rs751300489 0.00003
NM_001613.4(ACTA2):c.648G>A (p.Glu216=) rs775575485 0.00003
NM_001613.4(ACTA2):c.977C>A (p.Thr326Asn) rs777832794 0.00003
NM_001613.4(ACTA2):c.729G>A (p.Glu243=) rs768077621 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.115C>T (p.Arg39Cys) rs112901682 0.00001
NM_001613.4(ACTA2):c.234C>T (p.Ile78=) rs373518147 0.00001
NM_001613.4(ACTA2):c.296C>G (p.Ala99Gly) rs779757924 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.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.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.756C>T (p.Ile252=) rs982289637 0.00001
NM_001613.4(ACTA2):c.772C>T (p.Arg258Cys) rs121434528 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.995T>C (p.Ile332Thr) rs1314144330 0.00001
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.1058C>A (p.Thr353Asn)
NM_001613.4(ACTA2):c.1132T>C (p.Ter378Gln) rs878854465
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.132G>A (p.Gly44=)
NM_001613.4(ACTA2):c.143G>A (p.Gly48Glu)
NM_001613.4(ACTA2):c.143G>T (p.Gly48Val)
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.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.246C>G (p.Asp82Glu) rs1254836237
NM_001613.4(ACTA2):c.257A>G (p.Lys86Arg) rs1554841831
NM_001613.4(ACTA2):c.259-1G>A rs1210919054
NM_001613.4(ACTA2):c.283G>A (p.Glu95Lys) rs1064796442
NM_001613.4(ACTA2):c.323C>T (p.Thr108Met) rs886038789
NM_001613.4(ACTA2):c.345G>A (p.Lys115=)
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.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.454+1G>T
NM_001613.4(ACTA2):c.468C>T (p.Asp156=)
NM_001613.4(ACTA2):c.482T>C (p.Val161Ala) rs1589394154
NM_001613.4(ACTA2):c.496C>A (p.Pro166Thr) rs886038868
NM_001613.4(ACTA2):c.4T>A (p.Cys2Ser) rs1846002030
NM_001613.4(ACTA2):c.505G>A (p.Glu169Lys)
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.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.61G>T (p.Ala21Ser)
NM_001613.4(ACTA2):c.635G>A (p.Arg212Gln) rs397516685
NM_001613.4(ACTA2):c.636G>A (p.Arg212=)
NM_001613.4(ACTA2):c.653T>G (p.Leu218Arg)
NM_001613.4(ACTA2):c.677A>C (p.Glu226Ala)
NM_001613.4(ACTA2):c.688G>A (p.Ala230Thr)
NM_001613.4(ACTA2):c.708C>T (p.Ser236=)
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.76G>A (p.Asp26Asn)
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.808G>A (p.Gly270Arg) rs794728028
NM_001613.4(ACTA2):c.809G>A (p.Gly270Glu) rs794728029
NM_001613.4(ACTA2):c.809G>T (p.Gly270Val)
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.883C>G (p.Leu295Val)
NM_001613.4(ACTA2):c.92C>T (p.Ala31Val)
NM_001613.4(ACTA2):c.940C>T (p.Arg314Ter) rs886038978
NM_001613.4(ACTA2):c.951G>A (p.Lys317=)
NM_001613.4(ACTA2):c.957C>T (p.Ile319=)

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