ClinVar Miner

List of variants in gene ACTA2 reported as likely pathogenic

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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_001613.4(ACTA2):c.115C>T (p.Arg39Cys) rs112901682 0.00001
NM_001613.4(ACTA2):c.445C>T (p.Arg149Cys) rs121434526 0.00001
NM_001613.4(ACTA2):c.592C>T (p.Arg198Cys) rs772862676 0.00001
NM_001613.4(ACTA2):c.1076T>G (p.Ile359Ser) rs2133237860
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.137T>G (p.Met46Arg) rs1554841843
NM_001613.4(ACTA2):c.138G>T (p.Met46Ile) rs878854466
NM_001613.4(ACTA2):c.146T>C (p.Met49Thr) rs869025352
NM_001613.4(ACTA2):c.215C>T (p.Pro72Leu) rs1060500134
NM_001613.4(ACTA2):c.246C>G (p.Asp82Glu) rs1254836237
NM_001613.4(ACTA2):c.259-1G>C
NM_001613.4(ACTA2):c.325del (p.Glu109fs) rs2133261333
NM_001613.4(ACTA2):c.340_343del (p.Pro114fs) rs2133261286
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.446G>T (p.Arg149Leu) rs794728025
NM_001613.4(ACTA2):c.46T>C (p.Ser16Pro) rs1554841990
NM_001613.4(ACTA2):c.482T>C (p.Val161Ala) rs1589394154
NM_001613.4(ACTA2):c.55T>C (p.Cys19Arg) rs2133273980
NM_001613.4(ACTA2):c.593G>A (p.Arg198His) rs746972765
NM_001613.4(ACTA2):c.616G>A (p.Ala206Thr) rs886042811
NM_001613.4(ACTA2):c.635G>A (p.Arg212Gln) rs397516685
NM_001613.4(ACTA2):c.720G>C (p.Lys240Asn) rs727502878
NM_001613.4(ACTA2):c.766C>A (p.Arg256Ser) rs886038852
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.773G>A (p.Arg258His) rs121434527
NM_001613.4(ACTA2):c.940C>T (p.Arg314Ter) rs886038978
NM_001613.4(ACTA2):c.991-1G>C rs794728031
NM_001613.4(ACTA2):c.991-1del rs1589388907

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