List of variants in gene ACTA2 reported as likely benign by Color Diagnostics, LLC DBA Color Health

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 65

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HGVS	dbSNP	gnomAD frequency
NM_001613.4(ACTA2):c.174C>T (p.Asp58=)	rs150547139	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.78C>T (p.Asp26=)	rs141538225	0.00010
NM_001613.4(ACTA2):c.807C>T (p.Ile269=)	rs112208466	0.00010
NM_001613.4(ACTA2):c.846C>T (p.Asn282=)	rs375251378	0.00009
NM_001613.4(ACTA2):c.1047C>T (p.Ala349=)	rs111352790	0.00006
NM_001613.4(ACTA2):c.63C>T (p.Ala21=)	rs201193926	0.00006
NM_001613.4(ACTA2):c.903A>G (p.Leu301=)	rs372824072	0.00006
NM_001613.4(ACTA2):c.216G>A (p.Pro72=)	rs181255627	0.00004
NM_001613.4(ACTA2):c.324G>A (p.Thr108=)	rs750005327	0.00004
NM_001613.4(ACTA2):c.420G>A (p.Ala140=)	rs762567614	0.00004
NM_001613.4(ACTA2):c.60G>A (p.Lys20=)	rs373232511	0.00004
NM_001613.4(ACTA2):c.1017C>T (p.Tyr339=)	rs1418187980	0.00003
NM_001613.4(ACTA2):c.1092C>T (p.Tyr364=)	rs754695149	0.00003
NM_001613.4(ACTA2):c.165C>T (p.Tyr55=)	rs747205071	0.00003
NM_001613.4(ACTA2):c.390T>C (p.Asn130=)	rs141933412	0.00003
NM_001613.4(ACTA2):c.477T>C (p.Asp159=)	rs761805696	0.00003
NM_001613.4(ACTA2):c.538C>T (p.Leu180=)	rs375204799	0.00003
NM_001613.4(ACTA2):c.1131C>T (p.Phe377=)	rs1062399	0.00002
NM_001613.4(ACTA2):c.246C>T (p.Asp82=)	rs1254836237	0.00002
NM_001613.4(ACTA2):c.729G>A (p.Glu243=)	rs768077621	0.00002
NM_001613.4(ACTA2):c.72T>C (p.Ala24=)	rs773996169	0.00002
NM_001613.4(ACTA2):c.960G>A (p.Thr320=)	rs752425336	0.00002
NM_001613.4(ACTA2):c.234C>T (p.Ile78=)	rs373518147	0.00001
NM_001613.4(ACTA2):c.258+6G>A	rs1415012145	0.00001
NM_001613.4(ACTA2):c.259-15C>A	rs1239079270	0.00001
NM_001613.4(ACTA2):c.259-8C>T	rs771519428	0.00001
NM_001613.4(ACTA2):c.303A>G (p.Glu101=)	rs757977826	0.00001
NM_001613.4(ACTA2):c.411T>A (p.Ala137=)	rs191977133	0.00001
NM_001613.4(ACTA2):c.455-11T>C	rs765499730	0.00001
NM_001613.4(ACTA2):c.51G>C (p.Gly17=)	rs1206769832	0.00001
NM_001613.4(ACTA2):c.567C>T (p.Asp189=)	rs764571918	0.00001
NM_001613.4(ACTA2):c.579G>A (p.Lys193=)	rs772458406	0.00001
NM_001613.4(ACTA2):c.617-14T>C	rs776041033	0.00001
NM_001613.4(ACTA2):c.654G>A (p.Leu218=)	rs1437442292	0.00001
NM_001613.4(ACTA2):c.991-6T>C	rs1057521471	0.00001
NM_001613.4(ACTA2):c.1023C>T (p.Val341=)	rs139352781
NM_001613.4(ACTA2):c.102A>T (p.Pro34=)	rs1845999885
NM_001613.4(ACTA2):c.1089A>G (p.Glu363=)	rs1564641128
NM_001613.4(ACTA2):c.1133A>G (p.Ter378=)	rs1845710246
NM_001613.4(ACTA2):c.130-14T>C	rs1845971846
NM_001613.4(ACTA2):c.141G>A (p.Val47=)
NM_001613.4(ACTA2):c.204C>T (p.Thr68=)	rs1350332195
NM_001613.4(ACTA2):c.259-11C>T	rs1759218378
NM_001613.4(ACTA2):c.259-12C>T	rs1411318617
NM_001613.4(ACTA2):c.288T>C (p.Leu96=)	rs1845900856
NM_001613.4(ACTA2):c.318G>A (p.Leu106=)	rs1845900195
NM_001613.4(ACTA2):c.333C>T (p.Pro111=)	rs1845899945
NM_001613.4(ACTA2):c.381G>A (p.Glu127=)	rs2133256510
NM_001613.4(ACTA2):c.399C>T (p.Ala133=)	rs781132665
NM_001613.4(ACTA2):c.435T>C (p.Tyr145=)	rs765374178
NM_001613.4(ACTA2):c.453T>C (p.Thr151=)	rs1845858890
NM_001613.4(ACTA2):c.455-3del	rs1409629545
NM_001613.4(ACTA2):c.459C>T (p.Ile153=)	rs1177449670
NM_001613.4(ACTA2):c.495C>T (p.Val165=)	rs1253704403
NM_001613.4(ACTA2):c.510C>T (p.Gly170=)
NM_001613.4(ACTA2):c.660T>C (p.Tyr220=)	rs1845812242
NM_001613.4(ACTA2):c.672C>T (p.Asp224=)	rs745719583
NM_001613.4(ACTA2):c.768T>C (p.Arg256=)
NM_001613.4(ACTA2):c.804C>T (p.Phe268=)	rs1845809015
NM_001613.4(ACTA2):c.819T>G (p.Ser273=)
NM_001613.4(ACTA2):c.864T>C (p.Asp288=)	rs2133246505
NM_001613.4(ACTA2):c.951G>A (p.Lys317=)
NM_001613.4(ACTA2):c.964C>T (p.Leu322=)	rs1845777231

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