List of variants in gene ACTA2 reported by Blueprint Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_001613.4(ACTA2):c.977C>A (p.Thr326Asn)	rs777832794	0.00003
NM_001613.4(ACTA2):c.107T>C (p.Ile36Thr)	rs772919504	0.00001
NM_001613.4(ACTA2):c.115C>T (p.Arg39Cys)	rs112901682	0.00001
NM_001613.4(ACTA2):c.772C>T (p.Arg258Cys)	rs121434528	0.00001
NM_001613.4(ACTA2):c.1030G>A (p.Gly344Ser)	rs771562943
NM_001613.4(ACTA2):c.116G>A (p.Arg39His)	rs794728021
NM_001613.4(ACTA2):c.142G>T (p.Gly48Ter)	rs869025351
NM_001613.4(ACTA2):c.146T>A (p.Met49Lys)	rs869025352
NM_001613.4(ACTA2):c.154A>G (p.Lys52Glu)	rs1589399071
NM_001613.4(ACTA2):c.215C>T (p.Pro72Leu)	rs1060500134
NM_001613.4(ACTA2):c.419C>T (p.Ala140Val)	rs397516683
NM_001613.4(ACTA2):c.635G>A (p.Arg212Gln)	rs397516685
NM_001613.4(ACTA2):c.720G>C (p.Lys240Asn)	rs727502878
NM_001613.4(ACTA2):c.991-1del	rs1589388907

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