List of variants in gene ACTA2 reported as uncertain significance for Multisystemic smooth muscle dysfunction syndrome

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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: 16

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HGVS	dbSNP	gnomAD frequency
NM_001613.4(ACTA2):c.*28A>T	rs143005546	0.00054
NM_001613.4(ACTA2):c.936C>T (p.Ala312=)	rs200213764	0.00015
NM_001613.4(ACTA2):c.369+7A>G	rs760471677	0.00002
NM_001613.4(ACTA2):c.*43A>G	rs886047452	0.00001
NM_001613.4(ACTA2):c.-56C>T	rs886047454	0.00001
NM_001613.4(ACTA2):c.13G>C (p.Glu5Gln)	rs886047453	0.00001
NM_001613.4(ACTA2):c.258+5G>T	rs1304133915	0.00001
NM_001613.4(ACTA2):c.808+14G>A	rs774120023	0.00001
NM_001141945.3(ACTA2):c.-23-3850C>G	rs1846074147
NM_001141945.3(ACTA2):c.-23-3869A>G	rs886047455
NM_001613.4(ACTA2):c.*104C>G	rs956182522
NM_001613.4(ACTA2):c.*122T>C	rs886047451
NM_001613.4(ACTA2):c.1019_1020del (p.Ser340fs)	rs794728034
NM_001613.4(ACTA2):c.24T>G (p.Thr8=)	rs1589400483
NM_001613.4(ACTA2):c.456C>T (p.Gly152=)	rs1845848773
NM_001613.4(ACTA2):c.645G>A (p.Lys215=)	rs1053760032

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