List of variants in gene ACTA2 reported as likely pathogenic by Ambry Genetics

Minimum submission review status:		Collection method:
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: 10

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HGVS	dbSNP	gnomAD frequency
NM_001613.4(ACTA2):c.592C>T (p.Arg198Cys)	rs772862676	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.146T>C (p.Met49Thr)	rs869025352
NM_001613.4(ACTA2):c.352C>T (p.Arg118Trp)	rs1845899655
NM_001613.4(ACTA2):c.419C>T (p.Ala140Val)	rs397516683
NM_001613.4(ACTA2):c.593G>A (p.Arg198His)	rs746972765
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

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