ClinVar Miner

List of variants in gene ACTA2 reported as pathogenic

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Total variants: 29
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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.554G>A (p.Arg185Gln) rs1057521105 0.00001
NM_001613.4(ACTA2):c.592C>T (p.Arg198Cys) rs772862676 0.00001
NM_001613.4(ACTA2):c.772C>T (p.Arg258Cys) rs121434528 0.00001
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.138G>A (p.Met46Ile) rs878854466
NM_001613.4(ACTA2):c.138G>T (p.Met46Ile) rs878854466
NM_001613.4(ACTA2):c.145A>G (p.Met49Val) rs397515325
NM_001613.4(ACTA2):c.218T>C (p.Ile73Thr)
NM_001613.4(ACTA2):c.350A>G (p.Asn117Ser) rs2133261250
NM_001613.4(ACTA2):c.353G>A (p.Arg118Gln) rs112602953
NM_001613.4(ACTA2):c.369+1G>C
NM_001613.4(ACTA2):c.446G>T (p.Arg149Leu) rs794728025
NM_001613.4(ACTA2):c.454+1del rs2133256226
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.593G>A (p.Arg198His) rs746972765
NM_001613.4(ACTA2):c.611C>T (p.Thr204Ile) rs1057522870
NM_001613.4(ACTA2):c.635G>A (p.Arg212Gln) rs397516685
NM_001613.4(ACTA2):c.648G>C (p.Glu216Asp)
NM_001613.4(ACTA2):c.655T>C (p.Cys219Arg)
NM_001613.4(ACTA2):c.773G>A (p.Arg258His) rs121434527
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.940C>T (p.Arg314Ter) rs886038978

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