ClinVar Miner

List of variants reported as likely benign for atrial septal defect 5

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 196
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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.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.84G>T (p.Ala28=) rs1008290796 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

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