ClinVar Miner

List of variants in gene ACTA2 reported by CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_001613.4(ACTA2):c.417G>A (p.Gln139=) rs111265233 0.00305
NM_001613.4(ACTA2):c.936C>T (p.Ala312=) rs200213764 0.00015
NM_001613.4(ACTA2):c.606C>T (p.Phe202=) rs143771352 0.00011
NM_001613.4(ACTA2):c.201G>C (p.Leu67=) rs199773697 0.00010
NM_001613.4(ACTA2):c.216G>A (p.Pro72=) rs181255627 0.00004
NM_001613.4(ACTA2):c.1109C>G (p.Ser370Cys) rs749867078 0.00001
NM_001613.4(ACTA2):c.115C>T (p.Arg39Cys) rs112901682 0.00001
NM_001613.4(ACTA2):c.592C>T (p.Arg198Cys) rs772862676 0.00001
NM_001613.4(ACTA2):c.1132T>C (p.Ter378Gln) rs878854465
NM_001613.4(ACTA2):c.116G>A (p.Arg39His) rs794728021
NM_001613.4(ACTA2):c.179C>G (p.Ala60Gly)
NM_001613.4(ACTA2):c.350A>G (p.Asn117Ser) rs2133261250
NM_001613.4(ACTA2):c.374T>A (p.Met125Lys) rs2133256518
NM_001613.4(ACTA2):c.536G>A (p.Arg179His) rs387906592
NM_001613.4(ACTA2):c.622C>T (p.Arg208Cys) rs1057523339
NM_001613.4(ACTA2):c.720G>C (p.Lys240Asn) rs727502878
NM_001613.4(ACTA2):c.739G>A (p.Gly247Arg) rs1845810587
NM_001613.4(ACTA2):c.79G>A (p.Asp27Asn) rs794728020
NM_001613.4(ACTA2):c.808G>A (p.Gly270Arg) rs794728028

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