ClinVar Miner

List of variants in gene FBN1 reported as benign for Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection

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Gene type:
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Total variants: 164
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HGVS dbSNP gnomAD frequency
NM_000138.5(FBN1):c.6997+17C>G rs363832 0.67656
NM_000138.5(FBN1):c.1875T>C (p.Asn625=) rs25458 0.25074
NM_000138.5(FBN1):c.3464-5G>A rs11853943 0.16287
NM_000138.5(FBN1):c.156G>T (p.Ala52=) rs25398 0.06859
NM_000138.5(FBN1):c.6855T>C (p.Asp2285=) rs363836 0.02755
NM_000138.5(FBN1):c.6888G>A (p.Gln2296=) rs363830 0.02418
NM_000138.5(FBN1):c.7819+8A>C rs363838 0.02324
NM_000138.5(FBN1):c.1960+30G>A rs25459 0.01932
NM_000138.5(FBN1):c.4460-19A>G rs55840194 0.01556
NM_000138.5(FBN1):c.3082+6A>G rs79321504 0.01406
NM_000138.5(FBN1):c.3442C>G (p.Pro1148Ala) rs140598 0.01315
NM_000138.5(FBN1):c.3294C>T (p.Asp1098=) rs140587 0.01051
NM_000138.5(FBN1):c.3965-8T>C rs140637 0.00859
NM_000138.5(FBN1):c.986T>C (p.Ile329Thr) rs12324002 0.00737
NM_000138.5(FBN1):c.5343G>A (p.Val1781=) rs140649 0.00561
NM_000138.5(FBN1):c.2855-9C>T rs140590 0.00556
NM_000138.5(FBN1):c.6393C>T (p.Cys2131=) rs61730051 0.00522
NM_000138.5(FBN1):c.6594C>T (p.Pro2198=) rs111844882 0.00439
NM_000138.5(FBN1):c.1746C>T (p.Cys582=) rs112366266 0.00436
NM_000138.5(FBN1):c.3675G>A (p.Pro1225=) rs148147223 0.00436
NM_000138.5(FBN1):c.4905C>G (p.Thr1635=) rs113115949 0.00435
NM_000138.5(FBN1):c.306C>T (p.Cys102=) rs25388 0.00372
NM_000138.5(FBN1):c.3082+8del rs193922196 0.00359
NM_000138.5(FBN1):c.2678-15C>T rs181681840 0.00324
NM_000138.5(FBN1):c.8283A>T (p.Thr2761=) rs146120912 0.00314
NM_000138.5(FBN1):c.2055C>T (p.Cys685=) rs140603 0.00304
NM_000138.5(FBN1):c.7497A>G (p.Leu2499=) rs148516442 0.00268
NM_000138.5(FBN1):c.2420-8T>C rs140582 0.00163
NM_000138.5(FBN1):c.3069G>A (p.Lys1023=) rs199789628 0.00148
NM_000138.5(FBN1):c.8502T>C (p.Thr2834=) rs363847 0.00148
NM_000138.5(FBN1):c.3463+3A>G rs80344206 0.00128
NM_000138.5(FBN1):c.6073G>T (p.Ala2025Ser) rs113577372 0.00115
NM_000138.5(FBN1):c.7950T>C (p.Asn2650=) rs143055643 0.00113
NM_000138.5(FBN1):c.6681A>C (p.Ser2227=) rs363824 0.00109
NM_000138.5(FBN1):c.6837G>A (p.Gly2279=) rs140584234 0.00094
NM_000138.5(FBN1):c.783T>C (p.Asn261=) rs113721547 0.00091
NM_000138.5(FBN1):c.6987C>G (p.Asp2329Glu) rs363831 0.00089
NM_000138.5(FBN1):c.6616+17G>A rs363822 0.00086
NM_000138.5(FBN1):c.2934C>G (p.Asp978Glu) rs138438849 0.00070
NM_000138.5(FBN1):c.3077T>C (p.Phe1026Ser) rs200381100 0.00067
NM_000138.5(FBN1):c.8385C>T (p.Ile2795=) rs138574576 0.00054
NM_000138.5(FBN1):c.4683C>T (p.Ser1561=) rs148024160 0.00053
NM_000138.5(FBN1):c.5065+10A>G rs375945405 0.00048
NM_000138.5(FBN1):c.5296+14G>A rs140650 0.00045
NM_000138.5(FBN1):c.7098C>T (p.Asp2366=) rs1005074 0.00044
NM_000138.5(FBN1):c.3890A>G (p.Glu1297Gly) rs200342067 0.00043
NM_000138.5(FBN1):c.645A>C (p.Arg215=) rs200062771 0.00043
NM_000138.5(FBN1):c.2148A>G (p.Gly716=) rs141039922 0.00042
NM_000138.5(FBN1):c.5964C>T (p.Thr1988=) rs113022801 0.00034
NM_000138.5(FBN1):c.5788+10C>A rs371560107 0.00032
NM_000138.5(FBN1):c.4443C>T (p.Ser1481=) rs145040593 0.00026
NM_000138.5(FBN1):c.2678-12T>C rs200368037 0.00024
NM_000138.5(FBN1):c.3514G>A (p.Val1172Met) rs200125037 0.00017
NM_000138.5(FBN1):c.3454G>A (p.Ala1152Thr) rs140890215 0.00016
NM_000138.5(FBN1):c.1371C>G (p.Arg457=) rs25436 0.00015
NM_000138.5(FBN1):c.3798T>C (p.Tyr1266=) rs112987543 0.00012
NM_000138.5(FBN1):c.2892C>T (p.Asp964=) rs116945525 0.00010
NM_000138.5(FBN1):c.1345G>A (p.Val449Ile) rs139058991 0.00009
NM_000138.5(FBN1):c.396T>C (p.Asp132=) rs147481356 0.00009
NM_000138.5(FBN1):c.7846A>G (p.Ile2616Val) rs143677764 0.00009
NM_000138.5(FBN1):c.8141C>T (p.Ala2714Val) rs772795413 0.00009
NM_000138.5(FBN1):c.2294-14C>G rs201446948 0.00008
NM_000138.5(FBN1):c.2746G>A (p.Val916Met) rs373644734 0.00007
NM_000138.5(FBN1):c.2772C>T (p.Gly924=) rs539699143 0.00007
NM_000138.5(FBN1):c.1316G>A (p.Arg439Gln) rs568810058 0.00006
NM_000138.5(FBN1):c.3013G>A (p.Glu1005Lys) rs564713154 0.00006
NM_000138.5(FBN1):c.5672-15C>G rs776163620 0.00006
NM_000138.5(FBN1):c.6577G>A (p.Glu2193Lys) rs201361628 0.00006
NM_000138.5(FBN1):c.7902C>T (p.Pro2634=) rs138621371 0.00006
NM_000138.5(FBN1):c.8300A>G (p.Asn2767Ser) rs536503540 0.00006
NM_000138.5(FBN1):c.8311G>A (p.Val2771Ile) rs193922244 0.00006
NM_000138.5(FBN1):c.155C>T (p.Ala52Val) rs1258637670 0.00005
NM_000138.5(FBN1):c.7051G>A (p.Gly2351Ser) rs746127796 0.00005
NM_000138.5(FBN1):c.7743C>T (p.Cys2581=) rs765772116 0.00005
NM_000138.5(FBN1):c.1885G>A (p.Val629Ile) rs140503215 0.00004
NM_000138.5(FBN1):c.2290G>A (p.Val764Ile) rs769641351 0.00004
NM_000138.5(FBN1):c.2753C>G (p.Pro918Arg) rs557798071 0.00004
NM_000138.5(FBN1):c.4176G>A (p.Lys1392=) rs141633998 0.00004
NM_000138.5(FBN1):c.980G>C (p.Arg327Thr) rs775206410 0.00004
NM_000138.5(FBN1):c.985A>G (p.Ile329Val) rs370955295 0.00004
NM_000138.5(FBN1):c.1992A>T (p.Gly664=) rs183929553 0.00003
NM_000138.5(FBN1):c.2745A>G (p.Glu915=) rs1285398012 0.00003
NM_000138.5(FBN1):c.3389A>G (p.His1130Arg) rs747189975 0.00003
NM_000138.5(FBN1):c.3610A>G (p.Met1204Val) rs775707895 0.00003
NM_000138.5(FBN1):c.4210+10C>T rs200548889 0.00003
NM_000138.5(FBN1):c.6819G>A (p.Met2273Ile) rs778027769 0.00003
NM_000138.5(FBN1):c.6903C>T (p.Ile2301=) rs146930301 0.00003
NM_000138.5(FBN1):c.7241G>A (p.Arg2414Gln) rs143863014 0.00003
NM_000138.5(FBN1):c.885T>G (p.Ile295Met) rs151056963 0.00003
NM_000138.5(FBN1):c.2547C>G (p.Ile849Met) rs778258207 0.00002
NM_000138.5(FBN1):c.3446A>G (p.Asn1149Ser) rs147584221 0.00002
NM_000138.5(FBN1):c.4665T>C (p.Val1555=) rs191569116 0.00002
NM_000138.5(FBN1):c.5788+19G>A rs758996081 0.00002
NM_000138.5(FBN1):c.7400A>G (p.Gln2467Arg) rs770839761 0.00002
NM_000138.5(FBN1):c.8327G>A (p.Arg2776Gln) rs748327743 0.00002
NM_000138.5(FBN1):c.1837+9T>C rs56102085 0.00001
NM_000138.5(FBN1):c.1977C>T (p.Ser659=) rs750118053 0.00001
NM_000138.5(FBN1):c.2773C>G (p.Leu925Val) rs149681175 0.00001
NM_000138.5(FBN1):c.3043G>A (p.Ala1015Thr) rs55831697 0.00001
NM_000138.5(FBN1):c.3089A>G (p.Asn1030Ser) rs375996640 0.00001
NM_000138.5(FBN1):c.3452C>T (p.Ser1151Phe) rs145146283 0.00001
NM_000138.5(FBN1):c.3740A>T (p.Asn1247Ile) rs568625812 0.00001
NM_000138.5(FBN1):c.3797A>T (p.Tyr1266Phe) rs200283837 0.00001
NM_000138.5(FBN1):c.3969C>T (p.Ile1323=) rs536546914 0.00001
NM_000138.5(FBN1):c.4012G>A (p.Val1338Ile) rs1416288007 0.00001
NM_000138.5(FBN1):c.4816+14C>T rs572479986 0.00001
NM_000138.5(FBN1):c.4913A>C (p.Tyr1638Ser) rs374520085 0.00001
NM_000138.5(FBN1):c.5582G>A (p.Ser1861Asn) rs766358553 0.00001
NM_000138.5(FBN1):c.6038-8T>A rs569460847 0.00001
NM_000138.5(FBN1):c.6932G>A (p.Arg2311His) rs141868829 0.00001
NM_000138.5(FBN1):c.6970G>A (p.Ala2324Thr) rs148831709 0.00001
NM_000138.5(FBN1):c.7903G>A (p.Ala2635Thr) rs746859988 0.00001
NM_000138.5(FBN1):c.8314A>G (p.Ser2772Gly) rs778014965 0.00001
NM_000138.5(FBN1):c.913A>G (p.Thr305Ala) rs758035051 0.00001
NM_000138.5(FBN1):c.954T>A (p.Gly318=) rs753055657 0.00001
NM_000138.5(FBN1):c.1148-16del
NM_000138.5(FBN1):c.1158C>G (p.Asn386Lys) rs368737502
NM_000138.5(FBN1):c.1324C>T (p.Pro442Ser)
NM_000138.5(FBN1):c.1415= (p.Tyr472=) rs113936729
NM_000138.5(FBN1):c.165-3del rs1436066063
NM_000138.5(FBN1):c.2168-15dup rs762586890
NM_000138.5(FBN1):c.2385A>G (p.Gly795=) rs1207115566
NM_000138.5(FBN1):c.2678-16del
NM_000138.5(FBN1):c.2729-17dup rs35314876
NM_000138.5(FBN1):c.2729-9del rs35314876
NM_000138.5(FBN1):c.2884T>C (p.Tyr962His)
NM_000138.5(FBN1):c.3016G>A (p.Glu1006Lys) rs754040534
NM_000138.5(FBN1):c.3209-7del rs2043526375
NM_000138.5(FBN1):c.3337+13del rs563620440
NM_000138.5(FBN1):c.33G>C (p.Leu11=)
NM_000138.5(FBN1):c.347-5del rs561135562
NM_000138.5(FBN1):c.359A>T (p.Asn120Ile) rs753900024
NM_000138.5(FBN1):c.394G>A (p.Asp132Asn)
NM_000138.5(FBN1):c.4088-8del rs1325437178
NM_000138.5(FBN1):c.4337-55dup rs138034853
NM_000138.5(FBN1):c.4459+15G>T
NM_000138.5(FBN1):c.4662A>C (p.Gly1554=)
NM_000138.5(FBN1):c.4748-11T>C rs549918653
NM_000138.5(FBN1):c.477G>A (p.Arg159=) rs1456579664
NM_000138.5(FBN1):c.5066-12C>A rs531105331
NM_000138.5(FBN1):c.5066-14del rs3833018
NM_000138.5(FBN1):c.5066-14dup rs3833018
NM_000138.5(FBN1):c.5066-15_5066-14del rs3833018
NM_000138.5(FBN1):c.5066-15_5066-14dup rs3833018
NM_000138.5(FBN1):c.5259A>G (p.Pro1753=)
NM_000138.5(FBN1):c.538+12del rs755209856
NM_000138.5(FBN1):c.5423-30_5423-28del rs56354352
NM_000138.5(FBN1):c.5545+14del rs748182794
NM_000138.5(FBN1):c.5936T>C (p.Leu1979Pro)
NM_000138.5(FBN1):c.6349A>G (p.Ile2117Val) rs572754741
NM_000138.5(FBN1):c.6380-13del rs768078387
NM_000138.5(FBN1):c.6380-20dup rs768078387
NM_000138.5(FBN1):c.6681A>G (p.Ser2227=)
NM_000138.5(FBN1):c.6804C>T (p.Leu2268=)
NM_000138.5(FBN1):c.6832C>T (p.Pro2278Ser) rs363835
NM_000138.5(FBN1):c.6994C>T (p.Leu2332Phe)
NM_000138.5(FBN1):c.6997+18C>T rs148116316
NM_000138.5(FBN1):c.7129A>G (p.Ile2377Val)
NM_000138.5(FBN1):c.716T>C (p.Ile239Thr)
NM_000138.5(FBN1):c.737-25CT[2] rs72041020
NM_000138.5(FBN1):c.7819+13del
NM_000138.5(FBN1):c.8203G>A (p.Glu2735Lys)
NM_000138.5(FBN1):c.8293G>A (p.Ala2765Thr)
NM_000138.5(FBN1):c.863-10dup rs748672558

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