ClinVar Miner

List of variants in gene ACTA2 reported by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_001613.4(ACTA2):c.455-17G>A rs3816245 0.00636
NM_001613.4(ACTA2):c.417G>A (p.Gln139=) rs111265233 0.00305
NM_001613.4(ACTA2):c.455-18C>T rs139684702 0.00022
NM_001613.4(ACTA2):c.216G>A (p.Pro72=) rs181255627 0.00004
NM_001613.4(ACTA2):c.165C>T (p.Tyr55=) rs747205071 0.00003
NM_001613.4(ACTA2):c.390T>C (p.Asn130=) rs141933412 0.00003
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.116G>A (p.Arg39His) rs794728021
NM_001613.4(ACTA2):c.139G>A (p.Val47Met) rs1181233032
NM_001613.4(ACTA2):c.274T>C (p.Phe92Leu)
NM_001613.4(ACTA2):c.495C>A (p.Val165=) rs1253704403
NM_001613.4(ACTA2):c.535C>T (p.Arg179Cys) rs886039303
NM_001613.4(ACTA2):c.612T>C (p.Thr204=) rs1554841258
NM_001613.4(ACTA2):c.635G>A (p.Arg212Gln) rs397516685
NM_001613.4(ACTA2):c.808+15C>T
NM_001613.4(ACTA2):c.991-7C>T rs765100909

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