ClinVar Miner

List of variants in gene ACTA2 reported as likely pathogenic by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001613.4(ACTA2):c.1076T>G (p.Ile359Ser) rs2133237860
NM_001613.4(ACTA2):c.116G>A (p.Arg39His) rs794728021
NM_001613.4(ACTA2):c.137T>G (p.Met46Arg) rs1554841843
NM_001613.4(ACTA2):c.446G>T (p.Arg149Leu) rs794728025
NM_001613.4(ACTA2):c.991-1G>C rs794728031

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