ClinVar Miner

List of variants in gene ACTA2 reported as uncertain significance by Invitae

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Gene type:
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Total variants: 147
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HGVS dbSNP gnomAD frequency
NM_001613.4(ACTA2):c.607G>A (p.Val203Ile) rs397516684 0.00004
NM_001613.4(ACTA2):c.403T>C (p.Tyr135His) rs751300489 0.00003
NM_001613.4(ACTA2):c.977C>A (p.Thr326Asn) rs777832794 0.00003
NM_001613.4(ACTA2):c.1120C>T (p.Arg374Cys) rs757166963 0.00002
NM_001613.4(ACTA2):c.129+5G>A rs373402293 0.00002
NM_001613.4(ACTA2):c.107T>C (p.Ile36Thr) rs772919504 0.00001
NM_001613.4(ACTA2):c.1112T>C (p.Ile371Thr) rs778887472 0.00001
NM_001613.4(ACTA2):c.175G>A (p.Glu59Lys) rs1306745024 0.00001
NM_001613.4(ACTA2):c.203C>T (p.Thr68Ile) rs1060500132 0.00001
NM_001613.4(ACTA2):c.258+6G>A rs1415012145 0.00001
NM_001613.4(ACTA2):c.296C>G (p.Ala99Gly) rs779757924 0.00001
NM_001613.4(ACTA2):c.310C>T (p.Pro104Ser) rs1156640249 0.00001
NM_001613.4(ACTA2):c.446G>A (p.Arg149His) rs794728025 0.00001
NM_001613.4(ACTA2):c.460G>A (p.Val154Met) rs1477551716 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.697G>A (p.Ala233Thr) rs777810222 0.00001
NM_001613.4(ACTA2):c.727G>A (p.Glu243Lys) rs1223323843 0.00001
NM_001613.4(ACTA2):c.784A>G (p.Thr262Ala) rs1382142026 0.00001
NM_001613.4(ACTA2):c.896A>G (p.Asn299Ser) rs886038946 0.00001
NC_000010.11:g.(?_88935213)_(88948940_?)dup
NM_001613.4(ACTA2):c.1006G>C (p.Glu336Gln) rs1564641192
NM_001613.4(ACTA2):c.1019_1020del (p.Ser340fs) rs794728034
NM_001613.4(ACTA2):c.1020dup (p.Val341fs)
NM_001613.4(ACTA2):c.104C>A (p.Ser35Tyr) rs1845999816
NM_001613.4(ACTA2):c.1058C>T (p.Thr353Ile)
NM_001613.4(ACTA2):c.1066C>T (p.Gln356Ter) rs1845712306
NM_001613.4(ACTA2):c.1067A>G (p.Gln356Arg)
NM_001613.4(ACTA2):c.1072T>C (p.Trp358Arg)
NM_001613.4(ACTA2):c.1084C>T (p.Gln362Ter) rs2133237845
NM_001613.4(ACTA2):c.1102G>A (p.Gly368Arg) rs1845711244
NM_001613.4(ACTA2):c.1102G>T (p.Gly368Trp)
NM_001613.4(ACTA2):c.1109C>A (p.Ser370Tyr)
NM_001613.4(ACTA2):c.1112T>A (p.Ile371Asn) rs778887472
NM_001613.4(ACTA2):c.1121G>A (p.Arg374His) rs1370988055
NM_001613.4(ACTA2):c.1126del (p.Cys376fs) rs1845710478
NM_001613.4(ACTA2):c.1132T>C (p.Ter378Gln) rs878854465
NM_001613.4(ACTA2):c.124C>T (p.His42Tyr)
NM_001613.4(ACTA2):c.129+4A>G rs1390177518
NM_001613.4(ACTA2):c.134T>C (p.Val45Ala) rs1554841848
NM_001613.4(ACTA2):c.136A>G (p.Met46Val) rs2133270221
NM_001613.4(ACTA2):c.137TGG[1] (p.Val47del)
NM_001613.4(ACTA2):c.139G>A (p.Val47Met) rs1181233032
NM_001613.4(ACTA2):c.143G>A (p.Gly48Glu)
NM_001613.4(ACTA2):c.148G>A (p.Gly50Arg)
NM_001613.4(ACTA2):c.169G>C (p.Gly57Arg) rs1845970518
NM_001613.4(ACTA2):c.170G>T (p.Gly57Val) rs1564647168
NM_001613.4(ACTA2):c.196A>C (p.Ile66Leu) rs1554841834
NM_001613.4(ACTA2):c.20G>A (p.Ser7Asn)
NM_001613.4(ACTA2):c.223C>A (p.His75Asn) rs2133269905
NM_001613.4(ACTA2):c.229A>G (p.Ile77Val) rs754716869
NM_001613.4(ACTA2):c.251T>C (p.Met84Thr) rs1589398956
NM_001613.4(ACTA2):c.257A>G (p.Lys86Arg) rs1554841831
NM_001613.4(ACTA2):c.258+4T>C
NM_001613.4(ACTA2):c.262T>C (p.Trp88Arg) rs2133261529
NM_001613.4(ACTA2):c.280A>G (p.Asn94Asp)
NM_001613.4(ACTA2):c.284A>G (p.Glu95Gly)
NM_001613.4(ACTA2):c.290G>C (p.Arg97Pro)
NM_001613.4(ACTA2):c.305A>C (p.Glu102Ala)
NM_001613.4(ACTA2):c.323C>T (p.Thr108Met) rs886038789
NM_001613.4(ACTA2):c.337A>G (p.Asn113Asp)
NM_001613.4(ACTA2):c.345G>C (p.Lys115Asn) rs1845899710
NM_001613.4(ACTA2):c.352C>T (p.Arg118Trp) rs1845899655
NM_001613.4(ACTA2):c.355G>C (p.Glu119Gln) rs867537284
NM_001613.4(ACTA2):c.367C>T (p.Gln123Ter) rs1845899288
NM_001613.4(ACTA2):c.369+4_369+7del rs1845898977
NM_001613.4(ACTA2):c.369+5G>A
NM_001613.4(ACTA2):c.36T>A (p.Cys12Ter)
NM_001613.4(ACTA2):c.370-14G>A
NM_001613.4(ACTA2):c.379G>C (p.Glu127Gln)
NM_001613.4(ACTA2):c.3G>A (p.Met1Ile)
NM_001613.4(ACTA2):c.404A>G (p.Tyr135Cys) rs2133256406
NM_001613.4(ACTA2):c.406G>T (p.Val136Leu) rs1845859956
NM_001613.4(ACTA2):c.410C>T (p.Ala137Val) rs1060500133
NM_001613.4(ACTA2):c.412A>G (p.Ile138Val)
NM_001613.4(ACTA2):c.452C>A (p.Thr151Asn) rs1554841360
NM_001613.4(ACTA2):c.454+1G>T
NM_001613.4(ACTA2):c.454+3A>G
NM_001613.4(ACTA2):c.454+5G>A rs1564644761
NM_001613.4(ACTA2):c.455-3C>A
NM_001613.4(ACTA2):c.455G>A (p.Gly152Asp) rs1589394206
NM_001613.4(ACTA2):c.461T>C (p.Val154Ala) rs1554841298
NM_001613.4(ACTA2):c.466G>C (p.Asp156His)
NM_001613.4(ACTA2):c.478G>A (p.Gly160Ser) rs794728026
NM_001613.4(ACTA2):c.481G>A (p.Val161Ile)
NM_001613.4(ACTA2):c.493G>A (p.Val165Ile)
NM_001613.4(ACTA2):c.4T>A (p.Cys2Ser) rs1846002030
NM_001613.4(ACTA2):c.505G>A (p.Glu169Lys)
NM_001613.4(ACTA2):c.511T>A (p.Tyr171Asn) rs2133254874
NM_001613.4(ACTA2):c.512A>G (p.Tyr171Cys) rs1845846497
NM_001613.4(ACTA2):c.523del (p.His175fs)
NM_001613.4(ACTA2):c.548C>G (p.Ala183Gly)
NM_001613.4(ACTA2):c.553C>G (p.Arg185Gly) rs772473154
NM_001613.4(ACTA2):c.563C>T (p.Thr188Ile)
NM_001613.4(ACTA2):c.56G>C (p.Cys19Ser)
NM_001613.4(ACTA2):c.574A>G (p.Met192Val) rs761222556
NM_001613.4(ACTA2):c.613A>G (p.Thr205Ala)
NM_001613.4(ACTA2):c.615T>C (p.Thr205=) rs1589393906
NM_001613.4(ACTA2):c.616+5G>C rs1845842113
NM_001613.4(ACTA2):c.622C>T (p.Arg208Cys) rs1057523339
NM_001613.4(ACTA2):c.632T>A (p.Val211Asp) rs2133250741
NM_001613.4(ACTA2):c.644del (p.Lys215fs)
NM_001613.4(ACTA2):c.649A>G (p.Lys217Glu) rs2133250689
NM_001613.4(ACTA2):c.64G>A (p.Gly22Ser) rs756496192
NM_001613.4(ACTA2):c.656_657del (p.Cys219fs) rs1845812292
NM_001613.4(ACTA2):c.676G>A (p.Glu226Lys) rs2133250624
NM_001613.4(ACTA2):c.678A>C (p.Glu226Asp)
NM_001613.4(ACTA2):c.710C>A (p.Ser237Tyr)
NM_001613.4(ACTA2):c.720G>C (p.Lys240Asn) rs727502878
NM_001613.4(ACTA2):c.733C>G (p.Pro245Ala)
NM_001613.4(ACTA2):c.73G>A (p.Gly25Arg) rs1554841985
NM_001613.4(ACTA2):c.748A>G (p.Ile250Val)
NM_001613.4(ACTA2):c.749T>C (p.Ile250Thr)
NM_001613.4(ACTA2):c.757G>A (p.Gly253Arg)
NM_001613.4(ACTA2):c.757G>C (p.Gly253Arg) rs1252359045
NM_001613.4(ACTA2):c.758G>A (p.Gly253Glu) rs1845810106
NM_001613.4(ACTA2):c.758G>T (p.Gly253Val) rs1845810106
NM_001613.4(ACTA2):c.763G>A (p.Glu255Lys) rs794728027
NM_001613.4(ACTA2):c.76G>C (p.Asp26His) rs1438979811
NM_001613.4(ACTA2):c.782A>G (p.Glu261Gly)
NM_001613.4(ACTA2):c.78C>A (p.Asp26Glu) rs141538225
NM_001613.4(ACTA2):c.808+5G>A rs2133250150
NM_001613.4(ACTA2):c.814G>C (p.Glu272Gln) rs1845781818
NM_001613.4(ACTA2):c.814G>T (p.Glu272Ter) rs1845781818
NM_001613.4(ACTA2):c.83C>T (p.Ala28Val) rs886038855
NM_001613.4(ACTA2):c.860G>A (p.Cys287Tyr)
NM_001613.4(ACTA2):c.866T>A (p.Ile289Asn) rs1554840984
NM_001613.4(ACTA2):c.868G>A (p.Asp290Asn) rs2133246485
NM_001613.4(ACTA2):c.883C>A (p.Leu295Ile)
NM_001613.4(ACTA2):c.88A>T (p.Arg30Trp) rs1564647905
NM_001613.4(ACTA2):c.898G>A (p.Val300Ile) rs1589391505
NM_001613.4(ACTA2):c.910G>A (p.Gly304Ser)
NM_001613.4(ACTA2):c.914C>T (p.Thr305Ile)
NM_001613.4(ACTA2):c.916A>G (p.Thr306Ala) rs1064796445
NM_001613.4(ACTA2):c.917C>A (p.Thr306Asn)
NM_001613.4(ACTA2):c.919A>G (p.Met307Val)
NM_001613.4(ACTA2):c.929G>A (p.Gly310Asp)
NM_001613.4(ACTA2):c.941G>A (p.Arg314Gln) rs1415888089
NM_001613.4(ACTA2):c.949_951del (p.Lys317del)
NM_001613.4(ACTA2):c.952G>A (p.Glu318Lys)
NM_001613.4(ACTA2):c.954G>C (p.Glu318Asp) rs779117107
NM_001613.4(ACTA2):c.962C>G (p.Ala321Gly)
NM_001613.4(ACTA2):c.970C>T (p.Pro324Ser) rs2133245848
NM_001613.4(ACTA2):c.983_985del (p.Lys328del) rs794728033
NM_001613.4(ACTA2):c.989A>C (p.Lys330Thr)
NM_001613.4(ACTA2):c.98dup (p.Ser35fs) rs2133273811
NM_001613.4(ACTA2):c.994A>G (p.Ile332Val)

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