ClinVar Miner

List of variants in gene ACTA2 reported as benign for cardiovascular disorder

Included ClinVar conditions (1440):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001613.4(ACTA2):c.370-19T>C rs714887 0.07944
NM_001613.4(ACTA2):c.455-17G>A rs3816245 0.00636
NM_001613.4(ACTA2):c.417G>A (p.Gln139=) rs111265233 0.00305
NM_001141945.3(ACTA2):c.-23-3831T>C rs552541075 0.00033
NM_001613.4(ACTA2):c.936C>T (p.Ala312=) rs200213764 0.00015
NM_001613.4(ACTA2):c.78C>T (p.Asp26=) rs141538225 0.00010
NM_001613.4(ACTA2):c.420G>A (p.Ala140=) rs762567614 0.00004
NM_001613.4(ACTA2):c.130-18T>C rs117106176 0.00001
NM_001613.4(ACTA2):c.696C>T (p.Ala232=) rs749557185 0.00001
NM_001613.4(ACTA2):c.*105G>T rs149059995

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