ClinVar Miner

List of variants in gene FBN1 reported as benign for not provided

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Gene type:
ClinVar version:
Total variants: 177
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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.*57A>G rs363849 0.01992
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.*1580G>A rs17352989 0.00504
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.6616+420C>T rs149012823 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.*1298C>G rs143446014 0.00360
NM_000138.5(FBN1):c.2678-15C>T rs181681840 0.00324
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.3509G>A (p.Arg1170His) rs137854475 0.00168
NM_000138.5(FBN1):c.*1252A>G rs566419089 0.00150
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.6681A>C (p.Ser2227=) rs363824 0.00109
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr) rs112287730 0.00107
NM_000138.5(FBN1):c.6700G>A (p.Val2234Met) rs112084407 0.00078
NM_000138.5(FBN1):c.510C>T (p.Tyr170=) rs111671429 0.00076
NM_000138.5(FBN1):c.6998-33del rs563973570 0.00075
NM_000138.5(FBN1):c.*1341C>T rs766719764 0.00061
NM_000138.5(FBN1):c.3422C>T (p.Pro1141Leu) rs2228241 0.00054
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.8363C>T (p.Thr2788Met) rs143007898 0.00031
NM_000138.5(FBN1):c.1371C>G (p.Arg457=) rs25436 0.00015
NM_000138.5(FBN1):c.2892C>T (p.Asp964=) rs116945525 0.00010
NM_000138.5(FBN1):c.8310C>T (p.His2770=) rs112189340 0.00006
NM_000138.5(FBN1):c.7964C>T (p.Ala2655Val) rs202240409 0.00005
NM_000138.5(FBN1):c.1837+4C>T rs199950267 0.00004
NM_000138.5(FBN1):c.5442C>T (p.Asn1814=) rs397515822 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.*960del rs527621676
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.1415= (p.Tyr472=) rs113936729
NM_000138.5(FBN1):c.2293+224dup rs3214936
NM_000138.5(FBN1):c.2855-139dup rs200982490
NM_000138.5(FBN1):c.3208+55_3208+60del rs143836403
NM_000138.5(FBN1):c.3337+13del rs563620440
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.4337-48T>A
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.5672-3T>C rs193922217
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.6998-40del rs193922229
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

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