ClinVar Miner

List of variants in gene ACTA2 studied for multisystemic smooth muscle dysfunction syndrome

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 42
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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.*28A>T rs143005546 0.00054
NM_001141945.3(ACTA2):c.-23-3831T>C rs552541075 0.00033
NC_000010.11:g.88935065C>T rs367977687 0.00016
NM_001613.4(ACTA2):c.174C>T (p.Asp58=) rs150547139 0.00015
NM_001613.4(ACTA2):c.936C>T (p.Ala312=) rs200213764 0.00015
NM_001613.4(ACTA2):c.201G>C (p.Leu67=) rs199773697 0.00010
NM_001613.4(ACTA2):c.420G>A (p.Ala140=) rs762567614 0.00004
NM_001613.4(ACTA2):c.390T>C (p.Asn130=) rs141933412 0.00003
NM_001613.4(ACTA2):c.648G>A (p.Glu216=) rs775575485 0.00003
NM_001613.4(ACTA2):c.977C>A (p.Thr326Asn) rs777832794 0.00003
NM_001613.4(ACTA2):c.129+5G>A rs373402293 0.00002
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.107T>C (p.Ile36Thr) rs772919504 0.00001
NM_001613.4(ACTA2):c.115C>T (p.Arg39Cys) rs112901682 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.296C>G (p.Ala99Gly) rs779757924 0.00001
NM_001613.4(ACTA2):c.553C>T (p.Arg185Ter) rs772473154 0.00001
NM_001613.4(ACTA2):c.616+6G>A rs1270669606 0.00001
NM_001613.4(ACTA2):c.689C>G (p.Ala230Gly) rs757461793 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.*105G>T rs149059995
NM_001613.4(ACTA2):c.*122T>C rs886047451
NM_001613.4(ACTA2):c.1019_1020del (p.Ser340fs) rs794728034
NM_001613.4(ACTA2):c.129+4A>G rs1390177518
NM_001613.4(ACTA2):c.24T>G (p.Thr8=) rs1589400483
NM_001613.4(ACTA2):c.323C>T (p.Thr108Met) rs886038789
NM_001613.4(ACTA2):c.353G>A (p.Arg118Gln) rs112602953
NM_001613.4(ACTA2):c.456C>T (p.Gly152=) rs1845848773
NM_001613.4(ACTA2):c.535C>A (p.Arg179Ser) rs886039303
NM_001613.4(ACTA2):c.535C>T (p.Arg179Cys) rs886039303
NM_001613.4(ACTA2):c.536G>A (p.Arg179His) rs387906592
NM_001613.4(ACTA2):c.536G>T (p.Arg179Leu) rs387906592
NM_001613.4(ACTA2):c.593G>A (p.Arg198His) rs746972765
NM_001613.4(ACTA2):c.645G>A (p.Lys215=) rs1053760032
NM_001613.4(ACTA2):c.78C>A (p.Asp26Glu) rs141538225

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