ClinVar Miner

List of variants in gene FBN1 reported as benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 182
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000138.5(FBN1):c.248-103T>C rs1018148 0.92308
NM_000138.5(FBN1):c.6314-64A>G rs2042746 0.89679
NM_000138.5(FBN1):c.*730G>T rs13598 0.89602
NM_000138.5(FBN1):c.8227-247T>C rs8023401 0.89545
NM_000138.5(FBN1):c.7571-113C>A rs1820488 0.89433
NM_000138.5(FBN1):c.*2158G>A rs11070641 0.75090
NM_000138.5(FBN1):c.6997+272G>A rs3929051 0.74907
NM_000138.5(FBN1):c.*1575T>G rs4775760 0.68134
NM_000138.5(FBN1):c.6997+17C>G rs363832 0.67656
NM_000138.5(FBN1):c.5672-255T>C rs2303500 0.66493
NM_000138.5(FBN1):c.6037+54T>A rs2303502 0.65707
NM_000138.5(FBN1):c.5545+270G>T rs2245752 0.65571
NM_000138.5(FBN1):c.6163+293G>A rs1426718 0.65146
NM_000138.5(FBN1):c.8052-266A>G rs16960901 0.65046
NM_000138.5(FBN1):c.*314C>T rs1042078 0.63415
NM_000138.5(FBN1):c.-181-192C>T rs2070768 0.53615
NM_000138.5(FBN1):c.6739+295G>A rs8034591 0.50419
NM_000138.5(FBN1):c.2855-288A>G rs11635140 0.50320
NM_000138.5(FBN1):c.2854+161A>G rs11070644 0.37465
NM_000138.5(FBN1):c.1588+109C>T rs2306352 0.37302
NM_000138.5(FBN1):c.2168-46A>G rs140605 0.35180
NM_000138.5(FBN1):c.4942+305A>G rs7171359 0.34883
NM_000138.5(FBN1):c.5224+111A>G rs9806595 0.32313
NM_000138.5(FBN1):c.1875T>C (p.Asn625=) rs25458 0.25074
NM_000138.5(FBN1):c.1961-201G>A rs12904033 0.25057
NM_000138.5(FBN1):c.2113+107C>T rs16961033 0.23099
NM_000138.5(FBN1):c.1838-80G>T rs8037304 0.23046
NM_000138.5(FBN1):c.3337+221T>G rs7176364 0.20159
NM_000138.5(FBN1):c.1469-162A>G rs8034829 0.16794
NM_000138.5(FBN1):c.1148-271A>G rs57829342 0.16784
NM_000138.5(FBN1):c.3464-5G>A rs11853943 0.16287
NM_000138.5(FBN1):c.989-93C>A rs2413907 0.14777
NM_000138.5(FBN1):c.1714+306G>A rs8030753 0.14765
NM_000138.5(FBN1):c.5065+282A>G rs56286136 0.13218
NM_000138.5(FBN1):c.2677+75A>G rs6493325 0.12352
NM_000138.5(FBN1):c.988+289T>A rs17362691 0.12273
NM_000138.5(FBN1):c.6496+128A>G rs363820 0.11441
NM_000138.5(FBN1):c.2729-132A>G rs34837775 0.10972
NM_000138.5(FBN1):c.3964+161G>T rs34070783 0.10943
NM_000138.5(FBN1):c.3838+222G>A rs17458846 0.10934
NM_000138.5(FBN1):c.1960+98A>T rs35464791 0.10926
NM_000138.5(FBN1):c.4460-166C>T rs11855195 0.09937
NM_000138.5(FBN1):c.4337-55T>A rs75227249 0.09821
NM_000138.5(FBN1):c.4943-318G>C rs34539187 0.09806
NM_000138.5(FBN1):c.5297-125C>T rs28444298 0.08355
NM_000138.5(FBN1):c.863-283C>T rs73394223 0.08351
NM_000138.5(FBN1):c.5546-311C>T rs79307111 0.07527
NM_000138.5(FBN1):c.5066-35C>T rs77105137 0.07470
NM_000138.5(FBN1):c.5066-93A>G rs16960972 0.07131
NM_000138.5(FBN1):c.156G>T (p.Ala52=) rs25398 0.06859
NM_000138.4(FBN1):c.-388C>T rs3825792 0.06008
NM_000138.5(FBN1):c.6379+115C>T rs1991330 0.05684
NM_000138.5(FBN1):c.1328-144T>C rs16961071 0.05151
NM_000138.5(FBN1):c.5066-282A>G rs55681494 0.04758
NM_000138.5(FBN1):c.5546-303G>A rs16960962 0.04757
NM_000138.5(FBN1):c.1960+76G>A rs17361868 0.04650
NM_000138.5(FBN1):c.6497-23G>C rs3825962 0.03208
NM_000138.5(FBN1):c.*2040T>C rs73390272 0.03120
NM_000138.5(FBN1):c.*1959G>A rs12050562 0.03119
NM_000138.5(FBN1):c.6855T>C (p.Asp2285=) rs363836 0.02755
NM_000138.5(FBN1):c.6617-21A>T rs363823 0.02754
NM_000138.5(FBN1):c.7571-76T>A rs73390302 0.02587
NM_000138.5(FBN1):c.6888G>A (p.Gln2296=) rs363830 0.02418
NM_000138.5(FBN1):c.5917+249A>G rs1426716 0.02360
NM_000138.5(FBN1):c.7819+8A>C rs363838 0.02324
NM_000138.5(FBN1):c.7204+63C>A rs978558 0.02315
NM_000138.5(FBN1):c.6380-85T>A rs363817 0.02247
NM_000138.5(FBN1):c.3589+52G>T rs55641413 0.02059
NM_000138.5(FBN1):c.5672-63G>T rs363800 0.01987
NM_000138.5(FBN1):c.6872-1056C>G rs76975751 0.01966
NM_000138.5(FBN1):c.2168-234C>T rs73392185 0.01952
NM_000138.5(FBN1):c.1960+30G>A rs25459 0.01932
NM_000138.5(FBN1):c.989-68G>T rs113964612 0.01897
NM_000138.5(FBN1):c.2420-58del rs149403312 0.01826
NM_000138.5(FBN1):c.1715-286A>G rs60632431 0.01734
NM_000138.5(FBN1):c.1837+208G>T rs73392200 0.01684
NM_000138.5(FBN1):c.4460-19A>G rs55840194 0.01556
NM_000138.5(FBN1):c.538+256T>C rs74012211 0.01524
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.*867G>T rs189749406 0.00798
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.4087+45A>G rs111676388 0.00441
NM_000138.5(FBN1):c.6594C>T (p.Pro2198=) rs111844882 0.00439
NM_000138.5(FBN1):c.1469-95G>A rs11857671 0.00438
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.4817-36A>G rs142367537 0.00434
NM_000138.5(FBN1):c.7570+63A>G rs143758528 0.00434
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.6987C>G (p.Asp2329Glu) rs363831 0.00089
NM_000138.5(FBN1):c.6616+17G>A rs363822 0.00086
NM_000138.5(FBN1):c.510C>T (p.Tyr170=) rs111671429 0.00076
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.2895G>A (p.Glu965=) rs140591 0.00038
NM_000138.5(FBN1):c.5788+10C>A rs371560107 0.00032
NM_000138.5(FBN1):c.2175T>C (p.Asn725=) rs140606 0.00029
NM_000138.5(FBN1):c.539-15del rs193922211 0.00026
NM_000138.5(FBN1):c.2678-12T>C rs200368037 0.00024
NM_000138.5(FBN1):c.8445C>T (p.Leu2815=) rs142304692 0.00024
NM_000138.5(FBN1):c.6314-15G>A rs200841830 0.00023
NM_000138.5(FBN1):c.6705A>C (p.Gly2235=) rs2229326 0.00019
NM_000138.5(FBN1):c.3590-8T>C rs140600 0.00018
NM_000138.5(FBN1):c.5917+3A>G rs202158568 0.00014
NM_000138.5(FBN1):c.6288C>T (p.Cys2096=) rs144822241 0.00014
NM_000138.5(FBN1):c.8232G>A (p.Gln2744=) rs376119827 0.00013
NM_000138.5(FBN1):c.1323A>G (p.Pro441=) rs202030761 0.00011
NM_000138.5(FBN1):c.1838-6C>T rs374629233 0.00011
NM_000138.5(FBN1):c.3337+11G>A rs368726848 0.00009
NM_000138.5(FBN1):c.6942C>T (p.Tyr2314=) rs372967546 0.00007
NM_000138.5(FBN1):c.5097C>T (p.Tyr1699=) rs368979510 0.00006
NM_000138.5(FBN1):c.7902C>T (p.Pro2634=) rs138621371 0.00006
NM_000138.5(FBN1):c.8310C>T (p.His2770=) rs112189340 0.00006
NM_000138.5(FBN1):c.6852T>C (p.Pro2284=) rs201226058 0.00005
NM_000138.5(FBN1):c.1837+4C>T rs199950267 0.00004
NM_000138.5(FBN1):c.5481T>G (p.Thr1827=) rs1261752884 0.00001
NM_000138.5(FBN1):c.6038-8T>A rs569460847 0.00001
NM_000138.5(FBN1):c.*1562G>T rs78442438
NM_000138.5(FBN1):c.-35C>T rs199781948
NM_000138.5(FBN1):c.-36G>C rs543570298
NM_000138.5(FBN1):c.1147+162dup rs199844620
NM_000138.5(FBN1):c.141T>G (p.Gly47=) rs587780941
NM_000138.5(FBN1):c.1530G>T (p.Ser510=) rs147511977
NM_000138.5(FBN1):c.2293+224dup rs3214936
NM_000138.5(FBN1):c.3208+55_3208+60del rs143836403
NM_000138.5(FBN1):c.3443C>G (p.Pro1148Arg) rs2141293556
NM_000138.5(FBN1):c.3589+11TTTTA[5] rs72158035
NM_000138.5(FBN1):c.3589+134C>T rs12907671
NM_000138.5(FBN1):c.3589+50_3589+51insTTTAC rs757366027
NM_000138.5(FBN1):c.3589+52GTTAT[3] rs72132658
NM_000138.5(FBN1):c.3589+69TATTT[3] rs1170123917
NM_000138.5(FBN1):c.3839-311T>C rs11634866
NM_000138.5(FBN1):c.4210+202C>G rs56686382
NM_000138.5(FBN1):c.4337-315G>A rs12907167
NM_000138.5(FBN1):c.4337-55dup rs138034853
NM_000138.5(FBN1):c.4582+64A>G rs2279235
NM_000138.5(FBN1):c.4747+141del rs3214935
NM_000138.5(FBN1):c.4748-77T>G rs55694948
NM_000138.5(FBN1):c.4998C>T (p.Thr1666=) rs141925790
NM_000138.5(FBN1):c.5066-14dup rs3833018
NM_000138.5(FBN1):c.5297-109AC[15] rs3074895
NM_000138.5(FBN1):c.5297-109AC[16] rs3074895
NM_000138.5(FBN1):c.5297-109AC[17] rs3074895
NM_000138.5(FBN1):c.5297-109AC[19] rs3074895
NM_000138.5(FBN1):c.5297-109AC[20] rs3074895
NM_000138.5(FBN1):c.5297-109AC[22] rs3074895
NM_000138.5(FBN1):c.5423-30_5423-28del rs56354352
NM_000138.5(FBN1):c.5671+28dup rs55649234
NM_000138.5(FBN1):c.5917+221_5917+232del rs199516630
NM_000138.5(FBN1):c.5918-270_5918-269insTT rs10656611
NM_000138.5(FBN1):c.6832C>T (p.Pro2278Ser) rs363835
NM_000138.5(FBN1):c.6997+18C>T rs148116316
NM_000138.5(FBN1):c.6997+40C>T rs2141229721
NM_000138.5(FBN1):c.737-25CT[2] rs72041020
NM_000138.5(FBN1):c.737-26del rs373084568
NM_000138.5(FBN1):c.7700-277del rs200409772
NM_000138.5(FBN1):c.7700-288dup rs200409772
NM_000138.5(FBN1):c.7819+184del rs3214528
NM_000138.5(FBN1):c.8051+640_8051+641del rs11299662
NM_000138.5(FBN1):c.8051+641del rs11299662

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.