List of variants in gene ACTA2 reported as uncertain significance for Moyamoya disease

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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: 14

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HGVS	dbSNP	gnomAD frequency
NM_001613.4(ACTA2):c.*28A>T	rs143005546	0.00054
NM_001613.4(ACTA2):c.977C>A (p.Thr326Asn)	rs777832794	0.00003
NM_001613.4(ACTA2):c.129+5G>A	rs373402293	0.00002
NM_001613.4(ACTA2):c.369+7A>G	rs760471677	0.00002
NM_001613.4(ACTA2):c.296C>G (p.Ala99Gly)	rs779757924	0.00001
NM_001613.4(ACTA2):c.553C>T (p.Arg185Ter)	rs772473154	0.00001
NM_001613.4(ACTA2):c.689C>G (p.Ala230Gly)	rs757461793	0.00001
NM_001141945.3(ACTA2):c.-23-3869A>G	rs886047455
NM_001613.4(ACTA2):c.*122T>C	rs886047451
NM_001613.4(ACTA2):c.129+4A>G	rs1390177518
NM_001613.4(ACTA2):c.290G>A (p.Arg97His)
NM_001613.4(ACTA2):c.323C>T (p.Thr108Met)	rs886038789
NM_001613.4(ACTA2):c.641T>C (p.Ile214Thr)	rs1845812659
NM_001613.4(ACTA2):c.78C>A (p.Asp26Glu)	rs141538225

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