List of variants in gene ACTA2 reported as likely pathogenic for cardiovascular disorder

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 24

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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.592C>T (p.Arg198Cys)	rs772862676	0.00001
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.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.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.720G>C (p.Lys240Asn)	rs727502878
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

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