ClinVar Miner

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

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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_001613.4(ACTA2):c.455-161C>T rs41284110 0.03397
NM_001613.4(ACTA2):c.-24+173A>G rs72809344 0.02065
NR_125373.1(ACTA2-AS1):n.637C>T rs77086884 0.01481
NM_001613.4(ACTA2):c.-23-308G>A rs143468038 0.01147
NM_001613.4(ACTA2):c.129+126A>G rs76011400 0.01094
NM_001613.4(ACTA2):c.129+57A>C rs115232613 0.01088
NM_001613.4(ACTA2):c.454+65G>A rs79127111 0.01050
NM_001613.4(ACTA2):c.369+65A>G rs112402745 0.00630
NM_001613.4(ACTA2):c.990+251A>G rs78562283 0.00630
NM_001613.4(ACTA2):c.455-154T>C rs142963257 0.00416
NM_001613.4(ACTA2):c.259-332C>T rs144932246 0.00406
NM_001613.4(ACTA2):c.-23-438C>T rs186083661 0.00382
NM_001613.4(ACTA2):c.369+108C>T rs11202909 0.00095
NM_001613.4(ACTA2):c.369+276C>T rs182620667 0.00081
NM_001613.4(ACTA2):c.455-18C>T rs139684702 0.00022
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.606C>T (p.Phe202=) rs143771352 0.00011
NM_001613.4(ACTA2):c.807C>T (p.Ile269=) rs112208466 0.00010
NM_001613.4(ACTA2):c.-23-22G>C rs201343300 0.00009
NM_001613.4(ACTA2):c.259-17del rs757055278 0.00006
NM_001613.4(ACTA2):c.63C>T (p.Ala21=) rs201193926 0.00006
NM_001613.4(ACTA2):c.324G>A (p.Thr108=) rs750005327 0.00004
NM_001613.4(ACTA2):c.648G>A (p.Glu216=) rs775575485 0.00003
NM_001613.4(ACTA2):c.1131C>T (p.Phe377=) rs1062399 0.00002
NM_001613.4(ACTA2):c.591G>A (p.Glu197=) rs886038487 0.00002
NM_001613.4(ACTA2):c.960G>A (p.Thr320=) rs752425336 0.00002
NM_001613.4(ACTA2):c.130-18T>C rs117106176 0.00001
NM_001613.4(ACTA2):c.369+10C>A rs1057522148 0.00001
NM_001613.4(ACTA2):c.411T>A (p.Ala137=) rs191977133 0.00001
NM_001613.4(ACTA2):c.617-14T>C rs776041033 0.00001
NM_001613.4(ACTA2):c.726C>T (p.Tyr242=) rs752705172 0.00001
NM_001613.4(ACTA2):c.756C>T (p.Ile252=) rs982289637 0.00001
NM_001613.4(ACTA2):c.808+14G>A rs774120023 0.00001
NM_001613.4(ACTA2):c.809-19G>A rs1364730695 0.00001
NM_001613.4(ACTA2):c.991-6T>C rs1057521471 0.00001
NM_001141945.3(ACTA2):c.-23-4057G>C rs59597720
NM_001613.4(ACTA2):c.18C>T (p.Asp6=) rs1057522967
NM_001613.4(ACTA2):c.258+261dup rs372619604
NM_001613.4(ACTA2):c.616+192_616+194del rs139391282
NM_001613.4(ACTA2):c.882C>T (p.Asp294=) rs1589391528

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