List of variants in gene ACTA2 reported as pathogenic for Aortic aneurysm, familial thoracic 6; Multisystemic smooth muscle dysfunction syndrome; Moyamoya disease 5

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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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.353G>A (p.Arg118Gln)	rs112602953
NM_001613.4(ACTA2):c.536G>A (p.Arg179His)	rs387906592

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