ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 351
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HGVS dbSNP gnomAD frequency
NM_000138.5(FBN1):c.3965-331G>A rs11070643 0.03329
NM_000138.5(FBN1):c.6872-243T>C rs12594736 0.02752
NM_000138.5(FBN1):c.6888G>A (p.Gln2296=) rs363830 0.02418
NM_000138.5(FBN1):c.7454-330G>A rs56746675 0.02327
NM_000138.5(FBN1):c.7205-201G>A rs3752687 0.02326
NM_000138.5(FBN1):c.7453+272_7453+273insC rs146522769 0.02326
NM_000138.5(FBN1):c.7205-177A>G rs3752688 0.02324
NM_000138.5(FBN1):c.7819+8A>C rs363838 0.02324
NM_000138.5(FBN1):c.7205-277T>C rs73392115 0.02320
NM_000138.5(FBN1):c.4747+68C>T rs2279233 0.02118
NM_000138.5(FBN1):c.4460-262G>A rs148432944 0.02006
NM_000138.5(FBN1):c.5917+314A>G rs118100306 0.02003
NM_000138.5(FBN1):c.5546-171A>T rs75340436 0.01992
NM_000138.5(FBN1):c.5671+188C>T rs12591586 0.01992
NM_000138.5(FBN1):c.5672-205A>G rs2303501 0.01992
NM_000138.5(FBN1):c.5423-338A>T rs35063088 0.01991
NM_000138.5(FBN1):c.5918-183A>G rs56240014 0.01989
NM_000138.5(FBN1):c.6163+130C>T rs2278187 0.01989
NM_000138.5(FBN1):c.6038-173G>A rs2278186 0.01987
NM_000138.5(FBN1):c.5788+314A>G rs116519276 0.01986
NM_000138.5(FBN1):c.6037+123A>G rs2303503 0.01986
NM_000138.5(FBN1):c.6164-298G>A rs75690169 0.01975
NM_000138.5(FBN1):c.3589+41C>T rs55651064 0.01798
NM_000138.5(FBN1):c.4943-69A>G rs116727739 0.01775
NM_000138.5(FBN1):c.5546-279G>A rs112898751 0.01772
NM_000138.5(FBN1):c.443-35A>G rs116842662 0.01770
NM_000138.5(FBN1):c.248-198G>A rs76249401 0.01753
NM_000138.5(FBN1):c.247+95A>G rs116726127 0.01590
NM_000138.5(FBN1):c.4583-92C>T rs2279234 0.01553
NM_000138.5(FBN1):c.442+206G>A rs12593662 0.01548
NM_000138.5(FBN1):c.1714+90T>A rs75400759 0.01383
NM_000138.5(FBN1):c.2855-294G>A rs74011822 0.01383
NM_000138.5(FBN1):c.*223T>G rs16960899 0.01368
NM_000138.5(FBN1):c.*1989C>T rs56194244 0.01330
NM_000138.5(FBN1):c.*1368A>G rs77212138 0.01328
NM_000138.5(FBN1):c.989-122A>G rs116153781 0.01317
NM_000138.5(FBN1):c.3712+295C>T rs58687755 0.01314
NM_000138.5(FBN1):c.1147+257A>T rs114459469 0.01278
NM_000138.5(FBN1):c.5546-280C>T rs79196792 0.01257
NM_000138.5(FBN1):c.6496+158A>G rs56270063 0.01234
NM_000138.5(FBN1):c.5422+190A>T rs76610457 0.01228
NM_000138.5(FBN1):c.6037+299C>G rs16960948 0.01228
NM_000138.5(FBN1):c.4459+323G>A rs2279236 0.01226
NM_000138.5(FBN1):c.4088-51G>A rs114384790 0.01219
NM_000138.5(FBN1):c.4943-64G>A rs10519176 0.01092
NM_000138.5(FBN1):c.3294C>T (p.Asp1098=) rs140587 0.01051
NM_000138.5(FBN1):c.3338-305G>A rs150018293 0.00875
NM_000138.5(FBN1):c.6163+260del rs199530067 0.00847
NM_000138.5(FBN1):c.6163+258A>C rs116833750 0.00846
NM_000138.5(FBN1):c.8227-103C>T rs73390278 0.00770
NM_000138.5(FBN1):c.862+232C>T rs12324365 0.00770
NM_000138.5(FBN1):c.6740-187A>G rs73392136 0.00769
NM_000138.5(FBN1):c.7819+142G>A rs61076942 0.00768
NM_000138.5(FBN1):c.7205-223T>C rs73392114 0.00764
NM_000138.5(FBN1):c.6872-654T>A rs73392127 0.00763
NM_000138.5(FBN1):c.5066-175A>G rs112894337 0.00728
NM_000138.5(FBN1):c.2855-29A>G rs140589 0.00725
NM_000138.5(FBN1):c.2420-141A>G rs7172102 0.00721
NM_000138.5(FBN1):c.6872-944T>C rs74011804 0.00720
NM_000138.5(FBN1):c.863-272T>C rs111621810 0.00718
NM_000138.5(FBN1):c.*2153A>G rs116443051 0.00654
NM_000138.5(FBN1):c.6997+277T>C rs143652283 0.00618
NM_000138.5(FBN1):c.3713-222C>T rs115971707 0.00590
NM_000138.5(FBN1):c.5225-31C>T rs115751161 0.00583
NM_000138.5(FBN1):c.2293+167T>C rs149565203 0.00576
NM_000138.5(FBN1):c.6037+296G>A rs79162789 0.00565
NM_000138.5(FBN1):c.4748-98G>A rs77143634 0.00561
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.5225-78A>C rs148379487 0.00555
NM_000138.5(FBN1):c.5224+161C>T rs114977319 0.00552
NM_000138.5(FBN1):c.5224+160C>A rs115849520 0.00551
NM_000138.5(FBN1):c.5297-328T>C rs140002140 0.00551
NM_000138.5(FBN1):c.4582+150A>G rs144418749 0.00550
NM_000138.5(FBN1):c.7454-90A>G rs116817789 0.00548
NM_000138.5(FBN1):c.442+89G>A rs114317141 0.00545
NM_000138.5(FBN1):c.6164-58G>A rs150882233 0.00541
NM_000138.5(FBN1):c.5297-112C>T rs138943070 0.00538
NM_000138.5(FBN1):c.*1201_*1209dup rs569485265 0.00512
NM_000138.5(FBN1):c.8052-189T>C rs147284643 0.00512
NM_000138.5(FBN1):c.5296+242T>C rs112296895 0.00510
NM_000138.5(FBN1):c.4942+141C>T rs117949013 0.00508
NM_000138.5(FBN1):c.7699+297T>G rs140300904 0.00500
NM_000138.5(FBN1):c.3338-202G>T rs114014855 0.00493
NM_000138.5(FBN1):c.3082+150T>C rs115779631 0.00478
NM_000138.5(FBN1):c.443-84G>A rs73394269 0.00477
NM_000138.5(FBN1):c.6163+79C>G rs28730789 0.00469
NM_000138.5(FBN1):c.4337-82A>G rs143726494 0.00468
NM_000138.5(FBN1):c.-181-196G>A rs536964998 0.00454
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.4905C>G (p.Thr1635=) rs113115949 0.00435
NM_000138.5(FBN1):c.3712+215T>C rs144795529 0.00433
NM_000138.5(FBN1):c.4336+254A>G rs111422940 0.00424
NM_000138.5(FBN1):c.165-241C>T rs147108497 0.00421
NM_000138.5(FBN1):c.5917+208T>C rs527977897 0.00420
NM_000138.5(FBN1):c.2113+125G>A rs112825156 0.00419
NM_000138.5(FBN1):c.8051+575A>G rs115852492 0.00383
NM_000138.5(FBN1):c.5422+273A>T rs76788509 0.00381
NM_000138.5(FBN1):c.306C>T (p.Cys102=) rs25388 0.00372
NM_000138.5(FBN1):c.1961-112C>T rs77454691 0.00359
NM_000138.5(FBN1):c.3082+8del rs193922196 0.00359
NM_000138.5(FBN1):c.1589-328G>A rs571122637 0.00350
NM_000138.5(FBN1):c.4337-106A>G rs138315266 0.00347
NM_000138.5(FBN1):c.862+297_862+298del rs559232133 0.00340
NM_000138.5(FBN1):c.1715-49G>A rs146912376 0.00320
NM_000138.5(FBN1):c.8283A>T (p.Thr2761=) rs146120912 0.00314
NM_000138.5(FBN1):c.7454-162G>A rs185133826 0.00295
NM_000138.5(FBN1):c.*2524A>G rs75372203 0.00254
NM_000138.5(FBN1):c.2729-131C>T rs191331497 0.00218
NM_000138.5(FBN1):c.8051+448T>A rs182745665 0.00217
NM_000138.5(FBN1):c.1469-36A>C rs72739819 0.00211
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) rs137854475 0.00168
NM_000138.5(FBN1):c.2420-8T>C rs140582 0.00163
NM_000138.5(FBN1):c.248-44G>A rs186322296 0.00162
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.4441A>G (p.Ser1481Gly) rs61730054 0.00113
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.*2024A>G rs558488257 0.00103
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.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.*2091G>A rs575922741 0.00073
NM_000138.5(FBN1):c.2934C>G (p.Asp978Glu) rs138438849 0.00070
NM_000138.5(FBN1):c.8176C>T (p.Arg2726Trp) rs61746008 0.00070
NM_000138.5(FBN1):c.3077T>C (p.Phe1026Ser) rs200381100 0.00067
NM_000138.5(FBN1):c.3422C>T (p.Pro1141Leu) rs2228241 0.00054
NM_000138.5(FBN1):c.8385C>T (p.Ile2795=) rs138574576 0.00054
NM_000138.5(FBN1):c.7346A>G (p.Asn2449Ser) rs146166400 0.00049
NM_000138.5(FBN1):c.2148A>G (p.Gly716=) rs141039922 0.00042
NM_000138.5(FBN1):c.2895G>A (p.Glu965=) rs140591 0.00038
NM_000138.5(FBN1):c.1265G>A (p.Gly422Glu) rs139968089 0.00035
NM_000138.5(FBN1):c.5788+10C>A rs371560107 0.00032
NM_000138.5(FBN1):c.4640C>T (p.Thr1547Ile) rs183306990 0.00030
NM_000138.5(FBN1):c.2175T>C (p.Asn725=) rs140606 0.00029
NM_000138.5(FBN1):c.3058A>G (p.Thr1020Ala) rs111801777 0.00029
NM_000138.5(FBN1):c.7072G>A (p.Val2358Ile) rs140537304 0.00028
NM_000138.5(FBN1):c.2187A>C (p.Leu729=) rs61730055 0.00026
NM_000138.5(FBN1):c.7338C>T (p.Asn2446=) rs140178192 0.00025
NM_000138.5(FBN1):c.6872-956T>C rs766567890 0.00022
NM_000138.5(FBN1):c.6705A>C (p.Gly2235=) rs2229326 0.00019
NM_000138.5(FBN1):c.228C>T (p.Gly76=) rs141651917 0.00018
NM_000138.5(FBN1):c.902G>T (p.Gly301Val) rs142888621 0.00018
NM_000138.5(FBN1):c.6342A>C (p.Gly2114=) rs374705586 0.00017
NM_000138.5(FBN1):c.1371C>G (p.Arg457=) rs25436 0.00015
NM_000138.5(FBN1):c.3423G>A (p.Pro1141=) rs140396599 0.00015
NM_000138.5(FBN1):c.7056C>T (p.Ser2352=) rs149697299 0.00015
NM_000138.5(FBN1):c.863-3C>T rs955955089 0.00015
NM_000138.5(FBN1):c.3936C>T (p.Ser1312=) rs779913610 0.00014
NM_000138.5(FBN1):c.6288C>T (p.Cys2096=) rs144822241 0.00014
NM_000138.5(FBN1):c.736+9G>A rs368241741 0.00014
NM_000138.5(FBN1):c.6054C>T (p.Val2018=) rs542953863 0.00013
NM_000138.5(FBN1):c.8232G>A (p.Gln2744=) rs376119827 0.00013
NM_000138.5(FBN1):c.6576C>T (p.Cys2192=) rs369058466 0.00012
NM_000138.5(FBN1):c.1323A>G (p.Pro441=) rs202030761 0.00011
NM_000138.5(FBN1):c.1821T>C (p.Asp607=) rs149133920 0.00011
NM_000138.5(FBN1):c.2289C>T (p.Cys763=) rs181311020 0.00011
NM_000138.5(FBN1):c.3964+12C>T rs371986991 0.00011
NM_000138.5(FBN1):c.7560G>A (p.Thr2520=) rs760425899 0.00011
NM_000138.5(FBN1):c.2094G>T (p.Pro698=) rs144775475 0.00010
NM_000138.5(FBN1):c.2892C>T (p.Asp964=) rs116945525 0.00010
NM_000138.5(FBN1):c.1588+20C>T rs376488308 0.00009
NM_000138.5(FBN1):c.2232G>C (p.Gly744=) rs762745991 0.00009
NM_000138.5(FBN1):c.5225-13T>G rs367786211 0.00009
NM_000138.5(FBN1):c.5296+12C>T rs566030960 0.00009
NM_000138.5(FBN1):c.942A>G (p.Lys314=) rs376965275 0.00009
NM_000138.5(FBN1):c.2928C>T (p.Arg976=) rs761997019 0.00008
NM_000138.5(FBN1):c.3171C>T (p.Ser1057=) rs144400069 0.00008
NM_000138.5(FBN1):c.5297-19A>G rs375665466 0.00008
NM_000138.5(FBN1):c.1327+12A>G rs764788168 0.00007
NM_000138.5(FBN1):c.2772C>T (p.Gly924=) rs539699143 0.00007
NM_000138.5(FBN1):c.273T>C (p.Asp91=) rs375450755 0.00006
NM_000138.5(FBN1):c.2793G>T (p.Gly931=) rs775785545 0.00006
NM_000138.5(FBN1):c.3082+13G>A rs757559866 0.00006
NM_000138.5(FBN1):c.3464-6C>T rs375596551 0.00006
NM_000138.5(FBN1):c.4875C>G (p.Thr1625=) rs140628 0.00006
NM_000138.5(FBN1):c.4986A>G (p.Thr1662=) rs753705796 0.00006
NM_000138.5(FBN1):c.4998C>G (p.Thr1666=) rs141925790 0.00006
NM_000138.5(FBN1):c.5066-13dup rs774517414 0.00006
NM_000138.5(FBN1):c.5672-15C>G rs776163620 0.00006
NM_000138.5(FBN1):c.6164-3C>T rs571365493 0.00006
NM_000138.5(FBN1):c.6302C>T (p.Thr2101Met) rs200816828 0.00006
NM_000138.5(FBN1):c.6834C>T (p.Pro2278=) rs397515839 0.00006
NM_000138.5(FBN1):c.7204+7C>G rs371763964 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.8310C>T (p.His2770=) rs112189340 0.00006
NM_000138.5(FBN1):c.8311G>A (p.Val2771Ile) rs193922244 0.00006
NM_000138.5(FBN1):c.988+20G>A rs375760654 0.00006
NM_000138.5(FBN1):c.2927G>A (p.Arg976His) rs140954477 0.00005
NM_000138.5(FBN1):c.6852T>C (p.Pro2284=) rs201226058 0.00005
NM_000138.5(FBN1):c.7964C>T (p.Ala2655Val) rs202240409 0.00005
NM_000138.5(FBN1):c.7965G>A (p.Ala2655=) rs199887650 0.00005
NM_000138.5(FBN1):c.1242T>G (p.Pro414=) rs371929738 0.00004
NM_000138.5(FBN1):c.1602T>C (p.Cys534=) rs377386372 0.00004
NM_000138.5(FBN1):c.2419+13T>A rs372885314 0.00004
NM_000138.5(FBN1):c.2637C>T (p.Leu879=) rs202163602 0.00004
NM_000138.5(FBN1):c.3246C>T (p.Gly1082=) rs138855754 0.00004
NM_000138.5(FBN1):c.3837A>G (p.Val1279=) rs59007872 0.00004
NM_000138.5(FBN1):c.3838+20T>C rs772287702 0.00004
NM_000138.5(FBN1):c.4095C>T (p.Asp1365=) rs375402043 0.00004
NM_000138.5(FBN1):c.538+4A>G rs375721252 0.00004
NM_000138.5(FBN1):c.5442C>T (p.Asn1814=) rs397515822 0.00004
NM_000138.5(FBN1):c.5724A>G (p.Thr1908=) rs141219664 0.00004
NM_000138.5(FBN1):c.6052G>A (p.Val2018Ile) rs363802 0.00004
NM_000138.5(FBN1):c.6055G>A (p.Glu2019Lys) rs377149130 0.00004
NM_000138.5(FBN1):c.7230C>T (p.His2410=) rs193922231 0.00004
NM_000138.5(FBN1):c.7700-13G>C rs775509707 0.00004
NM_000138.5(FBN1):c.8004C>T (p.Gly2668=) rs371285755 0.00004
NM_000138.5(FBN1):c.8299A>G (p.Asn2767Asp) rs771437236 0.00004
NM_000138.5(FBN1):c.863-36T>C rs181838746 0.00004
NM_000138.5(FBN1):c.985A>G (p.Ile329Val) rs370955295 0.00004
NM_000138.5(FBN1):c.139G>A (p.Gly47Ser) rs762400500 0.00003
NM_000138.5(FBN1):c.1668G>A (p.Val556=) rs761662654 0.00003
NM_000138.5(FBN1):c.1992A>T (p.Gly664=) rs183929553 0.00003
NM_000138.5(FBN1):c.2658G>A (p.Pro886=) rs193922192 0.00003
NM_000138.5(FBN1):c.2930T>G (p.Met977Arg) rs199682686 0.00003
NM_000138.5(FBN1):c.3216C>T (p.Asp1072=) rs757177349 0.00003
NM_000138.5(FBN1):c.378A>G (p.Gly126=) rs149611106 0.00003
NM_000138.5(FBN1):c.4650C>T (p.Ser1550=) rs933962712 0.00003
NM_000138.5(FBN1):c.5066-7C>G rs377369765 0.00003
NM_000138.5(FBN1):c.5466C>T (p.Ala1822=) rs947248042 0.00003
NM_000138.5(FBN1):c.7842T>G (p.Ala2614=) rs764496589 0.00003
NM_000138.5(FBN1):c.8202C>T (p.Asn2734=) rs113904256 0.00003
NM_000138.5(FBN1):c.8433G>A (p.Gly2811=) rs771873118 0.00003
NM_000138.5(FBN1):c.8616A>G (p.Ter2872=) rs374499193 0.00003
NM_000138.5(FBN1):c.19C>T (p.Leu7=) rs139161583 0.00002
NM_000138.5(FBN1):c.2854+5A>G rs762989672 0.00002
NM_000138.5(FBN1):c.2949C>T (p.Ser983=) rs769307676 0.00002
NM_000138.5(FBN1):c.2950G>A (p.Val984Ile) rs747713929 0.00002
NM_000138.5(FBN1):c.4488G>A (p.Thr1496=) rs370494288 0.00002
NM_000138.5(FBN1):c.5292C>T (p.Pro1764=) rs111756438 0.00002
NM_000138.5(FBN1):c.5423-5C>T rs368750818 0.00002
NM_000138.5(FBN1):c.6379+4A>G rs780370404 0.00002
NM_000138.5(FBN1):c.6387C>T (p.Asp2129=) rs147342485 0.00002
NM_000138.5(FBN1):c.6872-12A>G rs568325297 0.00002
NM_000138.5(FBN1):c.7400A>G (p.Gln2467Arg) rs770839761 0.00002
NM_000138.5(FBN1):c.7575C>T (p.Asn2525=) rs759021474 0.00002
NM_000138.5(FBN1):c.8533C>T (p.Leu2845=) rs767060377 0.00002
NM_000138.5(FBN1):c.-25C>T rs973269130 0.00001
NM_000138.5(FBN1):c.-28C>T rs780163247 0.00001
NM_000138.5(FBN1):c.1289C>T (p.Pro430Leu) rs771134832 0.00001
NM_000138.5(FBN1):c.1533C>T (p.Tyr511=) rs1060504146 0.00001
NM_000138.5(FBN1):c.1653C>T (p.Gly551=) rs766565738 0.00001
NM_000138.5(FBN1):c.2127A>C (p.Ala709=) rs886038990 0.00001
NM_000138.5(FBN1):c.2433C>T (p.Cys811=) rs193921256 0.00001
NM_000138.5(FBN1):c.2540-13C>T rs1057522904 0.00001
NM_000138.5(FBN1):c.2711A>G (p.Lys904Arg) rs778951277 0.00001
NM_000138.5(FBN1):c.2773C>G (p.Leu925Val) rs149681175 0.00001
NM_000138.5(FBN1):c.2886C>T (p.Tyr962=) rs772108557 0.00001
NM_000138.5(FBN1):c.3089A>G (p.Asn1030Ser) rs375996640 0.00001
NM_000138.5(FBN1):c.3255G>A (p.Gln1085=) rs767088495 0.00001
NM_000138.5(FBN1):c.3282A>G (p.Glu1094=) rs773891478 0.00001
NM_000138.5(FBN1):c.3522C>T (p.Leu1174=) rs778312047 0.00001
NM_000138.5(FBN1):c.3570C>T (p.Pro1190=) rs188317014 0.00001
NM_000138.5(FBN1):c.3711C>T (p.Thr1237=) rs536369260 0.00001
NM_000138.5(FBN1):c.393C>T (p.Asp131=) rs549054625 0.00001
NM_000138.5(FBN1):c.3969C>T (p.Ile1323=) rs536546914 0.00001
NM_000138.5(FBN1):c.4056C>T (p.Pro1352=) rs766969494 0.00001
NM_000138.5(FBN1):c.4359G>A (p.Pro1453=) rs748551052 0.00001
NM_000138.5(FBN1):c.4446C>T (p.Gly1482=) rs772727859 0.00001
NM_000138.5(FBN1):c.4527T>C (p.Tyr1509=) rs776021250 0.00001
NM_000138.5(FBN1):c.4824T>C (p.Asp1608=) rs1057521341 0.00001
NM_000138.5(FBN1):c.5280T>C (p.Tyr1760=) rs730880103 0.00001
NM_000138.5(FBN1):c.5283C>T (p.Thr1761=) rs373887214 0.00001
NM_000138.5(FBN1):c.5430C>T (p.Asp1810=) rs765338162 0.00001
NM_000138.5(FBN1):c.5511C>T (p.Pro1837=) rs372767912 0.00001
NM_000138.5(FBN1):c.6038-8T>A rs569460847 0.00001
NM_000138.5(FBN1):c.7083G>A (p.Ser2361=) rs1597517953 0.00001
NM_000138.5(FBN1):c.7181G>A (p.Arg2394Gln) rs199750146 0.00001
NM_000138.5(FBN1):c.7209C>T (p.Ile2403=) rs767903343 0.00001
NM_000138.5(FBN1):c.7413G>A (p.Pro2471=) rs769588855 0.00001
NM_000138.5(FBN1):c.7602G>A (p.Leu2534=) rs1392530685 0.00001
NM_000138.5(FBN1):c.7773C>T (p.Ser2591=) rs764526450 0.00001
NM_000138.5(FBN1):c.7836C>T (p.Leu2612=) rs756689495 0.00001
NM_000138.5(FBN1):c.7839C>T (p.Ser2613=) rs193922238 0.00001
NM_000138.5(FBN1):c.8040C>T (p.Arg2680=) rs1266550976 0.00001
NM_000138.5(FBN1):c.8227-3C>T rs200822151 0.00001
NM_000138.5(FBN1):c.969A>G (p.Pro323=) rs759743242 0.00001
NM_000138.5(FBN1):c.989-10T>C rs774104217 0.00001
NM_000138.5(FBN1):c.1311A>G (p.Pro437=) rs1253494702
NM_000138.5(FBN1):c.1530G>A (p.Ser510=) rs147511977
NM_000138.5(FBN1):c.1588+10T>G rs761924614
NM_000138.5(FBN1):c.162A>G (p.Lys54=) rs777116853
NM_000138.5(FBN1):c.1837+36G>A rs76951679
NM_000138.5(FBN1):c.2168-15dup rs762586890
NM_000138.5(FBN1):c.2168-279_2168-277del rs3830220
NM_000138.5(FBN1):c.2294-14C>T rs201446948
NM_000138.5(FBN1):c.2544C>T (p.Thr848=) rs2043596539
NM_000138.5(FBN1):c.2729-198T>C rs74662988
NM_000138.5(FBN1):c.2913T>C (p.Ile971=) rs2141297416
NM_000138.5(FBN1):c.2952C>T (p.Val984=) rs374670384
NM_000138.5(FBN1):c.3123C>T (p.His1041=) rs576395584
NM_000138.5(FBN1):c.3463+15T>A rs1597563076
NM_000138.5(FBN1):c.347-19CTT[2] rs756583965
NM_000138.5(FBN1):c.3573T>C (p.Asp1191=) rs150912619
NM_000138.5(FBN1):c.4088-17T>C rs1397067049
NM_000138.5(FBN1):c.4155A>T (p.Gly1385=) rs2141279769
NM_000138.5(FBN1):c.4194T>C (p.Asp1398=) rs2043401428
NM_000138.5(FBN1):c.4748-130G>C rs75456997
NM_000138.5(FBN1):c.4863A>G (p.Lys1621=) rs2043314687
NM_000138.5(FBN1):c.4942+101A>T rs56101864
NM_000138.5(FBN1):c.4998C>T (p.Thr1666=) rs141925790
NM_000138.5(FBN1):c.5066-12C>A rs531105331
NM_000138.5(FBN1):c.5066-12C>T rs531105331
NM_000138.5(FBN1):c.5066-13A>T rs1167489368
NM_000138.5(FBN1):c.538+12del rs755209856
NM_000138.5(FBN1):c.5422+157dup rs201118654
NM_000138.5(FBN1):c.5423-30_5423-28del rs56354352
NM_000138.5(FBN1):c.5545+14del rs748182794
NM_000138.5(FBN1):c.5788+4C>A rs577301285
NM_000138.5(FBN1):c.5917+193AT[4] rs529269961
NM_000138.5(FBN1):c.5917+221AT[4] rs549747216
NM_000138.5(FBN1):c.5917+221AT[6] rs549747216
NM_000138.5(FBN1):c.5917+241AT[5] rs931622804
NM_000138.5(FBN1):c.6069T>A (p.Ile2023=) rs778537464
NM_000138.5(FBN1):c.6141C>T (p.Ser2047=) rs2141245369
NM_000138.5(FBN1):c.6339T>C (p.Tyr2113=)
NM_000138.5(FBN1):c.6380-87C>G
NM_000138.5(FBN1):c.6459T>C (p.Cys2153=) rs2141240349
NM_000138.5(FBN1):c.645A>T (p.Arg215=) rs200062771
NM_000138.5(FBN1):c.6616+241A>G rs2288303
NM_000138.5(FBN1):c.6832C>G (p.Pro2278Ala) rs363835
NM_000138.5(FBN1):c.6832C>T (p.Pro2278Ser) rs363835
NM_000138.5(FBN1):c.6872-93G>A rs559172589
NM_000138.5(FBN1):c.6930C>T (p.Thr2310=) rs767319373
NM_000138.5(FBN1):c.7299C>T (p.Tyr2433=) rs1566892872
NM_000138.5(FBN1):c.7330+53dup rs879018362
NM_000138.5(FBN1):c.7331-5C>T rs1597516086
NM_000138.5(FBN1):c.7428G>A (p.Leu2476=) rs1229985371
NM_000138.5(FBN1):c.7497A>T (p.Leu2499=)
NM_000138.5(FBN1):c.7515C>T (p.Gly2505=) rs374570475
NM_000138.5(FBN1):c.7530A>G (p.Lys2510=) rs754992689
NM_000138.5(FBN1):c.7653A>G (p.Glu2551=) rs1597513334
NM_000138.5(FBN1):c.7700-9C>G rs772261791
NM_000138.5(FBN1):c.7819+140G>A rs59270599
NM_000138.5(FBN1):c.8051+662G>A rs57935626
NM_000138.5(FBN1):c.8082A>C (p.Arg2694=) rs1597507799
NM_000138.5(FBN1):c.8185A>C (p.Lys2729Gln) rs370096856
NM_000138.5(FBN1):c.8223C>G (p.Ile2741Met) rs150065311
NM_000138.5(FBN1):c.8232G>C (p.Gln2744His) rs376119827
NM_000138.5(FBN1):c.8316T>C (p.Ser2772=) rs1597506843
NM_000138.5(FBN1):c.8331C>T (p.Ile2777=)
NM_000138.5(FBN1):c.8478C>G (p.Thr2826=) rs1597506683
NM_000138.5(FBN1):c.863-26C>T rs1433501467
NM_000138.5(FBN1):c.988+11T>G

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