ClinVar Miner

List of variants in gene combination ACTC1, GJD2-DT reported as likely benign for atrial septal defect 5

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 196
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005159.5(ACTC1):c.219C>T (p.Ile73=) rs376566924 0.00040
NM_005159.5(ACTC1):c.513C>T (p.Tyr171=) rs145023222 0.00022
NM_005159.5(ACTC1):c.141G>T (p.Val47=) rs1409682416 0.00016
NM_005159.5(ACTC1):c.130-9T>C rs147406641 0.00014
NM_005159.5(ACTC1):c.1092C>T (p.Tyr364=) rs140261885 0.00012
NM_005159.5(ACTC1):c.84G>T (p.Ala28=) rs1008290796 0.00010
NM_005159.5(ACTC1):c.246C>T (p.Asp82=) rs373261583 0.00009
NM_005159.5(ACTC1):c.455-7C>T rs768363857 0.00009
NM_005159.5(ACTC1):c.165C>T (p.Tyr55=) rs149432225 0.00008
NM_005159.5(ACTC1):c.465G>A (p.Leu155=) rs397517062 0.00007
NM_005159.5(ACTC1):c.129+18C>A rs368977747 0.00006
NM_005159.5(ACTC1):c.717G>A (p.Glu239=) rs369019849 0.00006
NM_005159.5(ACTC1):c.1053G>C (p.Leu351=) rs151321743 0.00004
NM_005159.5(ACTC1):c.309C>T (p.His103=) rs769303249 0.00004
NM_005159.5(ACTC1):c.652C>T (p.Leu218=) rs760269526 0.00004
NM_005159.5(ACTC1):c.270C>T (p.His90=) rs138812333 0.00003
NM_005159.5(ACTC1):c.300C>T (p.Pro100=) rs141322728 0.00003
NM_005159.5(ACTC1):c.399C>T (p.Ala133=) rs764630691 0.00003
NM_005159.5(ACTC1):c.498C>T (p.Pro166=) rs370082904 0.00003
NM_005159.5(ACTC1):c.51G>A (p.Gly17=) rs993704001 0.00003
NM_005159.5(ACTC1):c.180C>T (p.Ala60=) rs370322510 0.00002
NM_005159.5(ACTC1):c.294G>A (p.Val98=) rs397517058 0.00002
NM_005159.5(ACTC1):c.333G>A (p.Pro111=) rs774767260 0.00002
NM_005159.5(ACTC1):c.405C>T (p.Tyr135=) rs181479041 0.00002
NM_005159.5(ACTC1):c.455-18G>A rs925035661 0.00002
NM_005159.5(ACTC1):c.456C>T (p.Gly152=) rs771310484 0.00002
NM_005159.5(ACTC1):c.617-10A>G rs751985418 0.00002
NM_005159.5(ACTC1):c.809-11C>A rs1175630739 0.00002
NM_005159.5(ACTC1):c.809-8G>A rs767180775 0.00002
NM_005159.5(ACTC1):c.903A>G (p.Leu301=) rs138347995 0.00002
NM_005159.5(ACTC1):c.991-13T>C rs1375741970 0.00002
NM_005159.5(ACTC1):c.1035C>T (p.Gly345=) rs1430980455 0.00001
NM_005159.5(ACTC1):c.1044G>A (p.Leu348=) rs1461497941 0.00001
NM_005159.5(ACTC1):c.108C>T (p.Ile36=) rs1457769757 0.00001
NM_005159.5(ACTC1):c.1098G>A (p.Glu366=) rs758173419 0.00001
NM_005159.5(ACTC1):c.1131C>T (p.Phe377=) rs764683976 0.00001
NM_005159.5(ACTC1):c.117C>T (p.Arg39=) rs751851323 0.00001
NM_005159.5(ACTC1):c.120G>A (p.Pro40=) rs766934253 0.00001
NM_005159.5(ACTC1):c.12C>T (p.Asp4=) rs768526036 0.00001
NM_005159.5(ACTC1):c.130-4A>T rs772110994 0.00001
NM_005159.5(ACTC1):c.240C>T (p.Asn80=) rs1178754602 0.00001
NM_005159.5(ACTC1):c.318G>A (p.Leu106=) rs1335305223 0.00001
NM_005159.5(ACTC1):c.352C>A (p.Arg118=) rs1159252460 0.00001
NM_005159.5(ACTC1):c.369G>A (p.Gln123=) rs768169477 0.00001
NM_005159.5(ACTC1):c.423G>A (p.Val141=) rs922191208 0.00001
NM_005159.5(ACTC1):c.432G>T (p.Leu144=) rs1595761302 0.00001
NM_005159.5(ACTC1):c.441T>C (p.Ser147=) rs1199593688 0.00001
NM_005159.5(ACTC1):c.447T>C (p.Arg149=) rs1315206069 0.00001
NM_005159.5(ACTC1):c.455-14A>G rs902599585 0.00001
NM_005159.5(ACTC1):c.455-4G>A rs746508669 0.00001
NM_005159.5(ACTC1):c.455-9C>T rs1891726942 0.00001
NM_005159.5(ACTC1):c.609C>T (p.Val203=) rs1055408313 0.00001
NM_005159.5(ACTC1):c.617-7T>C rs750536667 0.00001
NM_005159.5(ACTC1):c.633C>T (p.Val211=) rs199947846 0.00001
NM_005159.5(ACTC1):c.663C>T (p.Val221=) rs766868624 0.00001
NM_005159.5(ACTC1):c.747C>T (p.Val249=) rs1470571495 0.00001
NM_005159.5(ACTC1):c.756T>C (p.Ile252=) rs371940910 0.00001
NM_005159.5(ACTC1):c.792C>T (p.Phe264=) rs769158928 0.00001
NM_005159.5(ACTC1):c.809-9C>T rs752499457 0.00001
NM_005159.5(ACTC1):c.81C>T (p.Asp27=) rs753552901 0.00001
NM_005159.5(ACTC1):c.93T>C (p.Ala31=) rs1341945129 0.00001
NM_005159.5(ACTC1):c.942T>C (p.Arg314=) rs778914066 0.00001
NM_005159.5(ACTC1):c.1005T>C (p.Pro335=) rs1179163467
NM_005159.5(ACTC1):c.1038C>T (p.Ser346=) rs748062476
NM_005159.5(ACTC1):c.1050T>A (p.Ser350=) rs895745627
NM_005159.5(ACTC1):c.1053G>A (p.Leu351=) rs151321743
NM_005159.5(ACTC1):c.1056C>T (p.Ser352=) rs1595759957
NM_005159.5(ACTC1):c.1095T>C (p.Asp365=)
NM_005159.5(ACTC1):c.1107A>G (p.Pro369=)
NM_005159.5(ACTC1):c.1119C>T (p.His373=) rs1208061059
NM_005159.5(ACTC1):c.1128C>T (p.Cys376=) rs1891679853
NM_005159.5(ACTC1):c.120G>C (p.Pro40=) rs766934253
NM_005159.5(ACTC1):c.123G>A (p.Arg41=)
NM_005159.5(ACTC1):c.129+10C>T
NM_005159.5(ACTC1):c.129+11C>T
NM_005159.5(ACTC1):c.129+14C>G
NM_005159.5(ACTC1):c.129+15G>A
NM_005159.5(ACTC1):c.129+17G>T
NM_005159.5(ACTC1):c.129+8T>A
NM_005159.5(ACTC1):c.130-15T>G rs376417852
NM_005159.5(ACTC1):c.130-18C>A
NM_005159.5(ACTC1):c.132A>C (p.Gly44=)
NM_005159.5(ACTC1):c.150T>C (p.Gly50=)
NM_005159.5(ACTC1):c.177A>G (p.Glu59=) rs755858258
NM_005159.5(ACTC1):c.195C>T (p.Gly65=)
NM_005159.5(ACTC1):c.201G>C (p.Leu67=)
NM_005159.5(ACTC1):c.204C>T (p.Thr68=) rs1891751214
NM_005159.5(ACTC1):c.207G>C (p.Leu69=)
NM_005159.5(ACTC1):c.213T>C (p.Tyr71=)
NM_005159.5(ACTC1):c.234C>T (p.Ile78=) rs1393400015
NM_005159.5(ACTC1):c.24C>T (p.Thr8=)
NM_005159.5(ACTC1):c.267C>T (p.His89=)
NM_005159.5(ACTC1):c.27C>T (p.Ala9=) rs1595762043
NM_005159.5(ACTC1):c.285G>A (p.Glu95=) rs1211913373
NM_005159.5(ACTC1):c.294G>T (p.Val98=) rs397517058
NM_005159.5(ACTC1):c.300C>G (p.Pro100=)
NM_005159.5(ACTC1):c.30G>A (p.Leu10=)
NM_005159.5(ACTC1):c.30G>C (p.Leu10=)
NM_005159.5(ACTC1):c.312C>G (p.Pro104=)
NM_005159.5(ACTC1):c.324A>T (p.Thr108=)
NM_005159.5(ACTC1):c.342C>T (p.Pro114=) rs878854754
NM_005159.5(ACTC1):c.384C>T (p.Thr128=)
NM_005159.5(ACTC1):c.408G>C (p.Val136=)
NM_005159.5(ACTC1):c.42C>T (p.Asn14=) rs1257278537
NM_005159.5(ACTC1):c.438T>C (p.Ala146=)
NM_005159.5(ACTC1):c.454+13C>A
NM_005159.5(ACTC1):c.454+18G>A
NM_005159.5(ACTC1):c.455-10C>T
NM_005159.5(ACTC1):c.455-12T>C
NM_005159.5(ACTC1):c.455-18G>C rs925035661
NM_005159.5(ACTC1):c.455-4del rs1178667520
NM_005159.5(ACTC1):c.459T>C (p.Ile153=) rs2140431034
NM_005159.5(ACTC1):c.45C>T (p.Gly15=)
NM_005159.5(ACTC1):c.471T>C (p.Ser157=) rs2140431029
NM_005159.5(ACTC1):c.489C>T (p.His163=)
NM_005159.5(ACTC1):c.501C>T (p.Ile167=) rs1306504752
NM_005159.5(ACTC1):c.504T>C (p.Tyr168=) rs2140430970
NM_005159.5(ACTC1):c.516T>C (p.Ala172=) rs397517064
NM_005159.5(ACTC1):c.522C>T (p.Pro174=)
NM_005159.5(ACTC1):c.525T>C (p.His175=) rs2140430937
NM_005159.5(ACTC1):c.537T>A (p.Arg179=) rs750131288
NM_005159.5(ACTC1):c.555G>A (p.Arg185=)
NM_005159.5(ACTC1):c.570C>T (p.Tyr190=) rs1595760934
NM_005159.5(ACTC1):c.579G>A (p.Lys193=)
NM_005159.5(ACTC1):c.597C>A (p.Gly199=) rs1595760921
NM_005159.5(ACTC1):c.616+10T>C
NM_005159.5(ACTC1):c.616+5GT[4] rs749539033
NM_005159.5(ACTC1):c.616+5GT[6]
NM_005159.5(ACTC1):c.616+7G>A
NM_005159.5(ACTC1):c.616+7G>T
NM_005159.5(ACTC1):c.617-11T>C rs1891721032
NM_005159.5(ACTC1):c.636T>C (p.Arg212=) rs1595760838
NM_005159.5(ACTC1):c.648G>A (p.Glu216=)
NM_005159.5(ACTC1):c.66C>T (p.Gly22=) rs1060504729
NM_005159.5(ACTC1):c.699C>T (p.Ala233=) rs1595760786
NM_005159.5(ACTC1):c.705C>T (p.Ser235=) rs2140430606
NM_005159.5(ACTC1):c.712C>T (p.Leu238=) rs1891718902
NM_005159.5(ACTC1):c.72G>A (p.Ala24=)
NM_005159.5(ACTC1):c.72G>C (p.Ala24=) rs778572289
NM_005159.5(ACTC1):c.741C>A (p.Gly247=) rs1595760747
NM_005159.5(ACTC1):c.744A>G (p.Gln248=)
NM_005159.5(ACTC1):c.753T>G (p.Thr251=) rs1595760737
NM_005159.5(ACTC1):c.75C>A (p.Gly25=)
NM_005159.5(ACTC1):c.75C>T (p.Gly25=) rs144819872
NM_005159.5(ACTC1):c.768C>T (p.Arg256=)
NM_005159.5(ACTC1):c.789C>T (p.Leu263=)
NM_005159.5(ACTC1):c.798C>G (p.Pro266=) rs397517068
NM_005159.5(ACTC1):c.798C>T (p.Pro266=) rs397517068
NM_005159.5(ACTC1):c.808+18G>A
NM_005159.5(ACTC1):c.808+20G>A
NM_005159.5(ACTC1):c.808+8G>T
NM_005159.5(ACTC1):c.808+9T>C
NM_005159.5(ACTC1):c.809-12A>G rs587780846
NM_005159.5(ACTC1):c.809-12A>T rs587780846
NM_005159.5(ACTC1):c.809-12_809-11insGT rs774238821
NM_005159.5(ACTC1):c.809-12_809-11insGTGG rs774238821
NM_005159.5(ACTC1):c.809-18_809-17insTGTGTA rs1447068308
NM_005159.5(ACTC1):c.809-20_809-19insTGTA rs1194538397
NM_005159.5(ACTC1):c.809-58TG[12] rs59431308
NM_005159.5(ACTC1):c.809-58TG[13] rs59431308
NM_005159.5(ACTC1):c.809-58TG[14] rs59431308
NM_005159.5(ACTC1):c.809-58TG[15] rs59431308
NM_005159.5(ACTC1):c.809-58TG[16] rs59431308
NM_005159.5(ACTC1):c.809-58TG[17] rs59431308
NM_005159.5(ACTC1):c.809-58TG[18] rs59431308
NM_005159.5(ACTC1):c.809-58TG[19] rs59431308
NM_005159.5(ACTC1):c.809-58TG[20] rs59431308
NM_005159.5(ACTC1):c.809-58TG[21] rs59431308
NM_005159.5(ACTC1):c.809-58TG[22] rs59431308
NM_005159.5(ACTC1):c.809-58TG[24] rs59431308
NM_005159.5(ACTC1):c.809-58TG[25] rs59431308
NM_005159.5(ACTC1):c.809-58TG[26] rs59431308
NM_005159.5(ACTC1):c.809-58TG[27] rs59431308
NM_005159.5(ACTC1):c.809-58TG[28] rs59431308
NM_005159.5(ACTC1):c.809-58TG[29] rs59431308
NM_005159.5(ACTC1):c.809-58TG[30] rs59431308
NM_005159.5(ACTC1):c.809-58TG[32]
NM_005159.5(ACTC1):c.809-8G>T rs767180775
NM_005159.5(ACTC1):c.852C>T (p.Ile284=)
NM_005159.5(ACTC1):c.861T>C (p.Cys287=)
NM_005159.5(ACTC1):c.885G>C (p.Leu295=) rs2140429649
NM_005159.5(ACTC1):c.906T>C (p.Ser302=) rs2140429615
NM_005159.5(ACTC1):c.90C>A (p.Arg30=)
NM_005159.5(ACTC1):c.90C>T (p.Arg30=) rs1555419004
NM_005159.5(ACTC1):c.915C>T (p.Thr305=) rs1049511214
NM_005159.5(ACTC1):c.93T>A (p.Ala31=)
NM_005159.5(ACTC1):c.969T>C (p.Ala323=)
NM_005159.5(ACTC1):c.975C>T (p.Ser325=) rs939520463
NM_005159.5(ACTC1):c.990+15T>C
NM_005159.5(ACTC1):c.991-10C>T rs1298992263
NM_005159.5(ACTC1):c.991-10_991-8del
NM_005159.5(ACTC1):c.991-18T>G rs1891683495
NM_005159.5(ACTC1):c.991-8T>A
NM_005159.5(ACTC1):c.993T>C (p.Ile331=)
NM_005159.5(ACTC1):c.999T>C (p.Ala333=) rs1891683050
NM_005159.5(ACTC1):c.9C>T (p.Asp3=) rs535623090

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.