ClinVar Miner

List of variants reported as benign for Marfan and Marfan-related disorder by Invitae

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 538
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HGVS dbSNP gnomAD frequency
NM_001999.4(FBN2):c.7200T>C (p.Ser2400=) rs190450 0.69111
NM_001999.4(FBN2):c.5675-9C>T rs27713 0.68788
NM_001999.4(FBN2):c.2893G>A (p.Val965Ile) rs154001 0.68054
NM_000138.5(FBN1):c.6997+17C>G rs363832 0.67656
NM_001999.4(FBN2):c.533-2432T>C rs17677603 0.50039
NM_001999.4(FBN2):c.6880+17G>A rs2042327 0.45423
NM_000138.5(FBN1):c.1875T>C (p.Asn625=) rs25458 0.25074
NM_000138.5(FBN1):c.3464-5G>A rs11853943 0.16287
NM_001999.4(FBN2):c.111G>A (p.Pro37=) rs55715053 0.14249
NM_001999.4(FBN2):c.6511+15A>G rs56131649 0.14023
NM_001999.4(FBN2):c.8274C>T (p.Ser2758=) rs10070365 0.13267
NM_001999.4(FBN2):c.6931A>G (p.Met2311Val) rs32209 0.11103
NM_001999.4(FBN2):c.183C>G (p.Pro61=) rs73348287 0.10581
NM_001999.4(FBN2):c.5823T>C (p.His1941=) rs11955288 0.09446
NM_001999.4(FBN2):c.4718-13T>C rs10044959 0.07765
NM_001999.4(FBN2):c.7739C>T (p.Ser2580Leu) rs2291628 0.07011
NM_001999.4(FBN2):c.7013-5T>C rs28763927 0.06995
NM_000138.5(FBN1):c.156G>T (p.Ala52=) rs25398 0.06859
NM_001032283.3(TMPO):c.565+2214C>G rs17459334 0.06758
NM_003036.4(SKI):c.185C>G (p.Ala62Gly) rs28384811 0.05253
NM_001999.4(FBN2):c.5675-9del rs112666443 0.05000
NM_001999.4(FBN2):c.6292+12C>A rs10042349 0.04495
NM_001032283.3(TMPO):c.565+1369C>G rs35969221 0.03471
NM_001999.4(FBN2):c.203C>T (p.Ala68Val) rs62390671 0.03303
NM_000138.5(FBN1):c.6855T>C (p.Asp2285=) rs363836 0.02755
NM_001999.4(FBN2):c.8733C>G (p.Leu2911=) rs34383505 0.02500
NM_001999.4(FBN2):c.4098A>C (p.Thr1366=) rs28763943 0.02427
NM_000138.5(FBN1):c.6888G>A (p.Gln2296=) rs363830 0.02418
NM_000138.5(FBN1):c.7819+8A>C rs363838 0.02324
NM_001032283.3(TMPO):c.565+1665A>G rs11838270 0.02179
NM_000138.5(FBN1):c.1960+30G>A rs25459 0.01932
NM_001032283.3(TMPO):c.565+1296T>G rs35645287 0.01895
NM_001999.4(FBN2):c.3015G>A (p.Leu1005=) rs28763946 0.01862
NM_001032283.3(TMPO):c.565+1132T>G rs35998138 0.01742
NM_001032283.3(TMPO):c.565+1853G>C rs35761089 0.01735
NM_000138.5(FBN1):c.4460-19A>G rs55840194 0.01556
NM_003238.6(TGFB2):c.643+7A>C rs7531245 0.01418
NM_000138.5(FBN1):c.3082+6A>G rs79321504 0.01406
NM_003036.4(SKI):c.99C>G (p.Gly33=) rs200019352 0.01364
NM_000138.5(FBN1):c.3442C>G (p.Pro1148Ala) rs140598 0.01315
NM_001032283.3(TMPO):c.565+2051T>A rs12316677 0.01280
NM_001032283.3(TMPO):c.565+1890T>G rs80325832 0.01253
NM_001032283.3(TMPO):c.565+1344G>C rs114939776 0.01252
NM_003036.4(SKI):c.294C>T (p.Thr98=) rs115746142 0.01188
NM_003239.5(TGFB3):c.1122C>G (p.Ala374=) rs4252345 0.01156
NM_000138.5(FBN1):c.3294C>T (p.Asp1098=) rs140587 0.01051
NM_001999.4(FBN2):c.2778C>T (p.Ala926=) rs28763948 0.00992
NM_003036.4(SKI):c.456C>T (p.Arg152=) rs149898447 0.00976
NM_003036.4(SKI):c.1211+11G>A rs115186522 0.00934
NM_001999.4(FBN2):c.1466-5C>T rs28763952 0.00887
NM_001999.4(FBN2):c.7296G>T (p.Gln2432His) rs34600572 0.00870
NM_000138.5(FBN1):c.3965-8T>C rs140637 0.00859
NM_001999.4(FBN2):c.4312G>A (p.Glu1438Lys) rs56168072 0.00832
NM_001999.4(FBN2):c.3166G>T (p.Ala1056Ser) rs28763945 0.00784
NM_000138.5(FBN1):c.986T>C (p.Ile329Thr) rs12324002 0.00737
NM_001999.4(FBN2):c.728T>C (p.Ile243Thr) rs117524265 0.00674
NM_001999.4(FBN2):c.976C>T (p.Pro326Ser) rs28763954 0.00654
NM_001999.4(FBN2):c.8154C>T (p.Leu2718=) rs34119447 0.00635
NM_003036.4(SKI):c.1974C>T (p.Arg658=) rs201895384 0.00623
NM_001999.4(FBN2):c.629-9A>G rs56025995 0.00616
NM_001999.4(FBN2):c.8347G>C (p.Glu2783Gln) rs76756898 0.00599
NM_001032283.3(TMPO):c.225G>A (p.Pro75=) rs59027673 0.00590
NM_001032283.3(TMPO):c.565+2487C>T rs17028450 0.00576
NM_001999.4(FBN2):c.3762C>T (p.Asp1254=) rs2279582 0.00570
NM_003036.4(SKI):c.1446G>A (p.Ala482=) rs114345135 0.00570
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.1029G>A (p.Gly343=) rs75655780 0.00545
NM_001999.4(FBN2):c.1285A>G (p.Ser429Gly) rs115242287 0.00534
NM_000138.5(FBN1):c.6393C>T (p.Cys2131=) rs61730051 0.00522
NM_003239.5(TGFB3):c.39C>T (p.Ala13=) rs11466415 0.00461
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_001999.4(FBN2):c.6000A>G (p.Leu2000=) rs148293104 0.00434
NM_001999.4(FBN2):c.1040G>A (p.Arg347His) rs112428886 0.00427
NM_001999.4(FBN2):c.6512-17G>C rs28763932 0.00427
NM_001999.4(FBN2):c.6615C>T (p.Asp2205=) rs28763931 0.00422
NM_003036.4(SKI):c.1834C>T (p.Leu612=) rs35833638 0.00418
NM_003036.4(SKI):c.1163C>T (p.Ala388Val) rs75280988 0.00410
NM_001999.4(FBN2):c.5496C>T (p.Arg1832=) rs35346129 0.00388
NM_000138.5(FBN1):c.306C>T (p.Cys102=) rs25388 0.00372
NM_001999.4(FBN2):c.6511+5G>A rs200608284 0.00363
NM_000138.5(FBN1):c.3082+8del rs193922196 0.00359
NM_003238.6(TGFB2):c.1239C>T (p.Cys413=) rs141225367 0.00359
NM_003238.6(TGFB2):c.619G>C (p.Val207Leu) rs10482810 0.00359
NM_001999.4(FBN2):c.7824C>T (p.Thr2608=) rs28763922 0.00339
NM_001999.4(FBN2):c.4141C>A (p.His1381Asn) rs78727187 0.00327
NM_000138.5(FBN1):c.2678-15C>T rs181681840 0.00324
NM_003036.4(SKI):c.1410C>T (p.Pro470=) rs150985728 0.00322
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_003238.6(TGFB2):c.272G>A (p.Arg91His) rs10482721 0.00297
NM_001032283.3(TMPO):c.565+1240G>A rs139700737 0.00284
NM_003036.4(SKI):c.1527C>T (p.Ser509=) rs111935632 0.00270
NM_000138.5(FBN1):c.7497A>G (p.Leu2499=) rs148516442 0.00268
NM_001999.4(FBN2):c.4206C>T (p.Asn1402=) rs34201226 0.00261
NM_001999.4(FBN2):c.8247A>G (p.Thr2749=) rs116413101 0.00251
NM_001999.4(FBN2):c.2428+6T>A rs77493726 0.00225
NM_001999.4(FBN2):c.7471+6G>A rs200998513 0.00205
NM_001999.4(FBN2):c.738G>A (p.Ala246=) rs150087436 0.00200
NM_001032283.3(TMPO):c.565+1728G>C rs145703021 0.00188
NM_001999.4(FBN2):c.5353+19C>T rs183524866 0.00179
NM_001999.4(FBN2):c.6551A>T (p.Asn2184Ile) rs149071226 0.00178
NM_003036.4(SKI):c.1211+19C>T rs182600375 0.00178
NM_001999.4(FBN2):c.7593A>G (p.Lys2531=) rs28763923 0.00175
NM_000138.5(FBN1):c.2420-8T>C rs140582 0.00163
NM_001999.4(FBN2):c.2940C>T (p.Cys980=) rs143255082 0.00158
NM_001999.4(FBN2):c.5448A>G (p.Pro1816=) rs138022198 0.00158
NM_001032283.3(TMPO):c.87C>T (p.Ala29=) rs114074541 0.00153
NM_001999.4(FBN2):c.953-8T>G rs201818403 0.00152
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_001999.4(FBN2):c.2555-7A>G rs28763949 0.00137
NM_001999.4(FBN2):c.4595-11G>C rs199640787 0.00135
NM_001999.4(FBN2):c.8364+7A>T rs185052980 0.00134
NM_001999.4(FBN2):c.5675-12_5675-11insG rs150372632 0.00133
NM_003036.4(SKI):c.1338C>T (p.Leu446=) rs148632347 0.00130
NM_000138.5(FBN1):c.3463+3A>G rs80344206 0.00128
NM_003239.5(TGFB3):c.744C>A (p.Ile248=) rs45477900 0.00123
NM_001999.4(FBN2):c.255-18C>A rs200300875 0.00120
NM_001999.4(FBN2):c.8304C>T (p.Asn2768=) rs28763920 0.00120
NM_000138.5(FBN1):c.6073G>T (p.Ala2025Ser) rs113577372 0.00115
NM_001999.4(FBN2):c.4791C>T (p.Ile1597=) rs147040906 0.00115
NM_000138.5(FBN1):c.7950T>C (p.Asn2650=) rs143055643 0.00113
NM_001999.4(FBN2):c.5353+10C>T rs113589974 0.00110
NM_000138.5(FBN1):c.6681A>C (p.Ser2227=) rs363824 0.00109
NM_001999.4(FBN2):c.4100-9G>T rs377002313 0.00106
NM_001999.4(FBN2):c.4949-18C>G rs372234336 0.00106
NM_001999.4(FBN2):c.3144C>T (p.Tyr1048=) rs1801167 0.00102
NM_001999.4(FBN2):c.3351C>T (p.Asp1117=) rs78484531 0.00102
NM_001999.4(FBN2):c.4222+12A>G rs79445561 0.00101
NM_003036.4(SKI):c.798C>T (p.Ala266=) rs149642284 0.00097
NM_001999.4(FBN2):c.3273T>C (p.Asn1091=) rs116741030 0.00096
NM_003239.5(TGFB3):c.34C>T (p.Leu12=) rs143612445 0.00096
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_003036.4(SKI):c.1851G>A (p.Glu617=) rs146789646 0.00091
NM_000138.5(FBN1):c.6987C>G (p.Asp2329Glu) rs363831 0.00089
NM_003238.6(TGFB2):c.114G>A (p.Glu38=) rs149215818 0.00087
NM_000138.5(FBN1):c.6616+17G>A rs363822 0.00086
NM_001999.4(FBN2):c.3974-19T>C rs112950479 0.00083
NM_001999.4(FBN2):c.2427T>A (p.Ile809=) rs139686090 0.00081
NM_001999.4(FBN2):c.4647C>T (p.Asn1549=) rs146662880 0.00076
NM_003036.4(SKI):c.417C>T (p.Ile139=) rs144874401 0.00076
NM_000138.5(FBN1):c.2934C>G (p.Asp978Glu) rs138438849 0.00070
NM_001999.4(FBN2):c.436+16G>A rs372098570 0.00068
NM_000138.5(FBN1):c.3077T>C (p.Phe1026Ser) rs200381100 0.00067
NM_001999.4(FBN2):c.132G>C (p.Pro44=) rs199702573 0.00067
NM_003036.4(SKI):c.1308C>T (p.Ala436=) rs139034124 0.00064
NM_001999.4(FBN2):c.7841-16G>T rs201231807 0.00063
NM_001999.4(FBN2):c.1749G>A (p.Gly583=) rs75940000 0.00061
NM_000138.5(FBN1):c.8385C>T (p.Ile2795=) rs138574576 0.00054
NM_001999.4(FBN2):c.4472-12T>A rs551686237 0.00054
NM_003238.6(TGFB2):c.357G>A (p.Pro119=) rs138514914 0.00054
NM_000138.5(FBN1):c.4683C>T (p.Ser1561=) rs148024160 0.00053
NM_003239.5(TGFB3):c.517-16T>C rs3917176 0.00050
NM_000138.5(FBN1):c.5065+10A>G rs375945405 0.00048
NM_001999.4(FBN2):c.3595G>A (p.Val1199Met) rs146997253 0.00048
NM_001999.4(FBN2):c.6841A>T (p.Ile2281Phe) rs115223340 0.00047
NM_001999.4(FBN2):c.7380C>T (p.Cys2460=) rs147102633 0.00046
NM_003036.4(SKI):c.1734C>T (p.Ser578=) rs117443908 0.00046
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_001999.4(FBN2):c.8043C>A (p.Pro2681=) rs149502195 0.00041
NM_001032283.3(TMPO):c.565+1105C>T rs138790561 0.00038
NM_003238.6(TGFB2):c.588C>T (p.Gly196=) rs192335285 0.00038
NM_001999.4(FBN2):c.7263G>A (p.Gln2421=) rs114376818 0.00036
NM_000138.5(FBN1):c.5964C>T (p.Thr1988=) rs113022801 0.00034
NM_001999.4(FBN2):c.4472-11A>T rs528062851 0.00034
NM_001999.4(FBN2):c.6666G>A (p.Pro2222=) rs192923239 0.00034
NM_000138.5(FBN1):c.5788+10C>A rs371560107 0.00032
NM_003036.4(SKI):c.516C>T (p.Pro172=) rs182513685 0.00032
NM_001032283.3(TMPO):c.358C>A (p.Leu120Ile) rs200420073 0.00029
NM_001999.4(FBN2):c.1057A>G (p.Thr353Ala) rs149992874 0.00029
NM_001999.4(FBN2):c.4454A>G (p.Asp1485Gly) rs199665922 0.00029
NM_003036.4(SKI):c.1767+9G>C rs181520853 0.00028
NM_000138.5(FBN1):c.4443C>T (p.Ser1481=) rs145040593 0.00026
NM_001999.4(FBN2):c.2249-19A>G rs193091226 0.00026
NM_001999.4(FBN2):c.5353+16G>A rs187448568 0.00026
NM_001999.4(FBN2):c.8364+18dup rs752497923 0.00026
NM_000138.5(FBN1):c.2678-12T>C rs200368037 0.00024
NM_001999.4(FBN2):c.297T>C (p.Pro99=) rs79375977 0.00024
NM_001999.4(FBN2):c.5430T>C (p.Asp1810=) rs750681115 0.00023
NM_003036.4(SKI):c.1474+15C>T rs369979606 0.00023
NM_003239.5(TGFB3):c.647-12C>G rs61762490 0.00023
NM_001999.4(FBN2):c.5670T>C (p.Cys1890=) rs74811638 0.00022
NM_001999.4(FBN2):c.6840G>T (p.Pro2280=) rs377742525 0.00022
NM_001999.4(FBN2):c.7013-7T>A rs191729449 0.00022
NM_001999.4(FBN2):c.8049G>A (p.Gly2683=) rs138044126 0.00020
NM_000138.5(FBN1):c.79G>A (p.Ala27Thr) rs25397 0.00019
NM_001999.4(FBN2):c.3322A>C (p.Met1108Leu) rs148127874 0.00019
NM_000138.5(FBN1):c.76G>C (p.Asp26His) rs146267697 0.00018
NM_001999.4(FBN2):c.6253C>G (p.Pro2085Ala) rs34845843 0.00018
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_001032283.3(TMPO):c.565+1298G>A rs370939324 0.00016
NM_001999.4(FBN2):c.3862G>A (p.Glu1288Lys) rs371512923 0.00016
NM_003036.4(SKI):c.1095+18G>A rs748998967 0.00016
NM_003036.4(SKI):c.1440G>A (p.Ser480=) rs185754530 0.00016
NM_000138.5(FBN1):c.1371C>G (p.Arg457=) rs25436 0.00015
NM_001999.4(FBN2):c.5602A>T (p.Ile1868Phe) rs150931558 0.00015
NM_001999.4(FBN2):c.6064G>A (p.Ala2022Thr) rs545524318 0.00014
NM_001999.4(FBN2):c.76A>G (p.Thr26Ala) rs374922166 0.00013
NM_003036.4(SKI):c.1254C>T (p.Asn418=) rs536126761 0.00013
NM_003239.5(TGFB3):c.88T>C (p.Leu30=) rs3917145 0.00013
NM_000138.5(FBN1):c.3798T>C (p.Tyr1266=) rs112987543 0.00012
NM_001032283.3(TMPO):c.280-9T>C rs756782828 0.00012
NM_001999.4(FBN2):c.6964A>G (p.Ile2322Val) rs756500246 0.00012
NM_001999.4(FBN2):c.7594+12G>A rs184678810 0.00012
NM_001999.4(FBN2):c.1651A>G (p.Asn551Asp) rs138389072 0.00011
NM_001999.4(FBN2):c.1850-14A>G rs201359451 0.00011
NM_001999.4(FBN2):c.6285A>G (p.Arg2095=) rs28763933 0.00011
NM_001999.4(FBN2):c.7180A>G (p.Ile2394Val) rs141854054 0.00011
NM_001999.4(FBN2):c.7942C>A (p.Gln2648Lys) rs375316758 0.00011
NM_000138.5(FBN1):c.2892C>T (p.Asp964=) rs116945525 0.00010
NM_001999.4(FBN2):c.157G>A (p.Gly53Ser) rs146807421 0.00010
NM_001999.4(FBN2):c.158G>A (p.Gly53Asp) rs375093230 0.00010
NM_001999.4(FBN2):c.2856G>T (p.Thr952=) rs556038110 0.00010
NM_001999.4(FBN2):c.3217+13G>A rs572013507 0.00010
NM_001999.4(FBN2):c.5983G>A (p.Gly1995Ser) rs145588052 0.00010
NM_001999.4(FBN2):c.6681A>G (p.Thr2227=) rs145681607 0.00010
NM_001999.4(FBN2):c.8674G>T (p.Asp2892Tyr) rs557212203 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_001999.4(FBN2):c.3013T>C (p.Leu1005=) rs147633551 0.00009
NM_000138.5(FBN1):c.2294-14C>G rs201446948 0.00008
NM_001999.4(FBN2):c.3518C>G (p.Thr1173Ser) rs199678757 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_001999.4(FBN2):c.2096-19G>A rs369377429 0.00007
NM_001999.4(FBN2):c.2480G>A (p.Arg827Gln) rs150735582 0.00007
NM_001999.4(FBN2):c.5495G>A (p.Arg1832His) rs140276399 0.00007
NM_001999.4(FBN2):c.8351C>T (p.Pro2784Leu) rs144574441 0.00007
NM_001999.4(FBN2):c.8530G>A (p.Val2844Ile) rs147134796 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.4211-10C>T rs28730793 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_001999.4(FBN2):c.1411G>A (p.Val471Ile) rs138046782 0.00006
NM_001999.4(FBN2):c.1644T>G (p.Asp548Glu) rs182651973 0.00006
NM_001999.4(FBN2):c.1682A>G (p.His561Arg) rs28763951 0.00006
NM_001999.4(FBN2):c.2978G>A (p.Arg993His) rs774483323 0.00006
NM_001999.4(FBN2):c.3405G>A (p.Pro1135=) rs185809581 0.00006
NM_001999.4(FBN2):c.6573C>T (p.Asp2191=) rs374456115 0.00006
NM_001999.4(FBN2):c.6982G>T (p.Ala2328Ser) rs199910288 0.00006
NM_001999.4(FBN2):c.8058C>A (p.Phe2686Leu) rs150734807 0.00006
NM_001999.4(FBN2):c.8520C>T (p.Asn2840=) rs139098335 0.00006
NM_000138.5(FBN1):c.155C>T (p.Ala52Val) rs1258637670 0.00005
NM_000138.5(FBN1):c.4316C>G (p.Ala1439Gly) rs755085498 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_001999.4(FBN2):c.1139C>T (p.Pro380Leu) rs139189178 0.00005
NM_001999.4(FBN2):c.1720A>G (p.Ile574Val) rs768073096 0.00005
NM_001999.4(FBN2):c.3414T>C (p.Phe1138=) rs769005512 0.00005
NM_001999.4(FBN2):c.6138G>T (p.Gly2046=) rs150627604 0.00005
NM_001999.4(FBN2):c.6297T>C (p.Thr2099=) rs770778839 0.00005
NM_003036.4(SKI):c.994A>G (p.Ile332Val) rs374264201 0.00005
NM_003239.5(TGFB3):c.1081-14A>G rs201379167 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_001032283.3(TMPO):c.565+1421A>G rs772426890 0.00004
NM_001999.4(FBN2):c.1103C>T (p.Ser368Leu) rs562268545 0.00004
NM_001999.4(FBN2):c.1313G>A (p.Gly438Glu) rs751545674 0.00004
NM_001999.4(FBN2):c.1400T>C (p.Phe467Ser) rs779849582 0.00004
NM_001999.4(FBN2):c.2363G>A (p.Arg788His) rs368116715 0.00004
NM_001999.4(FBN2):c.3793G>A (p.Glu1265Lys) rs776031352 0.00004
NM_001999.4(FBN2):c.4286C>T (p.Pro1429Leu) rs771467729 0.00004
NM_001999.4(FBN2):c.4418G>A (p.Arg1473His) rs140812463 0.00004
NM_001999.4(FBN2):c.6153C>T (p.Ser2051=) rs888075207 0.00004
NM_001999.4(FBN2):c.6539G>A (p.Gly2180Asp) rs537628586 0.00004
NM_001999.4(FBN2):c.8230T>G (p.Tyr2744Asp) rs752138290 0.00004
NM_003036.4(SKI):c.1041C>T (p.Ser347=) rs140745811 0.00004
NM_003036.4(SKI):c.138C>T (p.Ala46=) rs745527890 0.00004
NM_003239.5(TGFB3):c.288C>T (p.Thr96=) rs201047560 0.00004
NM_003239.5(TGFB3):c.387C>T (p.Ser129=) rs749768136 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_001999.4(FBN2):c.1423G>A (p.Gly475Ser) rs200440156 0.00003
NM_001999.4(FBN2):c.1424G>T (p.Gly475Val) rs56312356 0.00003
NM_001999.4(FBN2):c.2249-12T>C rs776314725 0.00003
NM_001999.4(FBN2):c.2258A>G (p.His753Arg) rs777266350 0.00003
NM_001999.4(FBN2):c.244G>A (p.Val82Met) rs550387143 0.00003
NM_001999.4(FBN2):c.2943G>T (p.Glu981Asp) rs142249689 0.00003
NM_001999.4(FBN2):c.3093G>A (p.Ala1031=) rs528529593 0.00003
NM_001999.4(FBN2):c.3820C>T (p.Leu1274=) rs192602314 0.00003
NM_001999.4(FBN2):c.5191A>G (p.Asn1731Asp) rs1476723489 0.00003
NM_001999.4(FBN2):c.5353+11G>A rs572393472 0.00003
NM_001999.4(FBN2):c.5814C>T (p.Cys1938=) rs753556200 0.00003
NM_001999.4(FBN2):c.5966G>A (p.Arg1989His) rs189964478 0.00003
NM_001999.4(FBN2):c.6007G>A (p.Glu2003Lys) rs995323393 0.00003
NM_001999.4(FBN2):c.6505C>T (p.Arg2169Cys) rs1450302477 0.00003
NM_001999.4(FBN2):c.733C>T (p.Arg245Trp) rs146941428 0.00003
NM_001999.4(FBN2):c.7525A>G (p.Thr2509Ala) rs752627315 0.00003
NM_001999.4(FBN2):c.8332A>C (p.Lys2778Gln) rs371715068 0.00003
NM_001999.4(FBN2):c.8644G>C (p.Glu2882Gln) rs765693576 0.00003
NM_003036.4(SKI):c.1573G>A (p.Val525Ile) rs141961299 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_001999.4(FBN2):c.1897A>G (p.Ile633Val) rs748419325 0.00002
NM_001999.4(FBN2):c.1973-20T>C rs774598343 0.00002
NM_001999.4(FBN2):c.2901A>G (p.Pro967=) rs185991527 0.00002
NM_001999.4(FBN2):c.3442A>G (p.Ser1148Gly) rs764809572 0.00002
NM_001999.4(FBN2):c.3464A>G (p.Asn1155Ser) rs150224718 0.00002
NM_001999.4(FBN2):c.6329A>G (p.Asn2110Ser) rs1016100479 0.00002
NM_001999.4(FBN2):c.6490A>G (p.Ser2164Gly) rs763160605 0.00002
NM_001999.4(FBN2):c.6910G>A (p.Asp2304Asn) rs368802769 0.00002
NM_001999.4(FBN2):c.6989G>A (p.Arg2330Lys) rs886038992 0.00002
NM_001999.4(FBN2):c.6994G>A (p.Asp2332Asn) rs886059894 0.00002
NM_001999.4(FBN2):c.8498G>A (p.Arg2833His) rs753753954 0.00002
NM_003036.4(SKI):c.190G>A (p.Val64Met) rs754036418 0.00002
NM_003239.5(TGFB3):c.927-20A>G rs574227787 0.00002
NM_000138.5(FBN1):c.1118C>T (p.Ala373Val) rs762598979 0.00001
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.4306G>A (p.Val1436Met) rs377338217 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.75G>A (p.Ala25=) rs543230518 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_001032283.3(TMPO):c.108G>T (p.Val36=) rs532884813 0.00001
NM_001032283.3(TMPO):c.81G>T (p.Leu27=) rs549257131 0.00001
NM_001999.4(FBN2):c.1157T>C (p.Met386Thr) rs750949734 0.00001
NM_001999.4(FBN2):c.1336G>A (p.Gly446Ser) rs1173562709 0.00001
NM_001999.4(FBN2):c.1418G>A (p.Gly473Glu) rs376096770 0.00001
NM_001999.4(FBN2):c.14G>A (p.Arg5Gln) rs1194684025 0.00001
NM_001999.4(FBN2):c.1812C>T (p.Ala604=) rs745811885 0.00001
NM_001999.4(FBN2):c.2042G>A (p.Arg681His) rs548605398 0.00001
NM_001999.4(FBN2):c.2271T>C (p.Ser757=) rs1338036259 0.00001
NM_001999.4(FBN2):c.2375G>A (p.Arg792His) rs374031658 0.00001
NM_001999.4(FBN2):c.2429-11G>A rs201849584 0.00001
NM_001999.4(FBN2):c.2855C>T (p.Thr952Met) rs766590294 0.00001
NM_001999.4(FBN2):c.3046G>A (p.Val1016Ile) rs773235785 0.00001
NM_001999.4(FBN2):c.3209T>A (p.Phe1070Tyr) rs139118782 0.00001
NM_001999.4(FBN2):c.3483A>G (p.Glu1161=) rs761867143 0.00001
NM_001999.4(FBN2):c.3568G>A (p.Glu1190Lys) rs755737169 0.00001
NM_001999.4(FBN2):c.4096A>G (p.Thr1366Ala) rs768722316 0.00001
NM_001999.4(FBN2):c.4124C>T (p.Ala1375Val) rs768753485 0.00001
NM_001999.4(FBN2):c.4402G>A (p.Val1468Ile) rs199668238 0.00001
NM_001999.4(FBN2):c.4407G>A (p.Pro1469=) rs546172367 0.00001
NM_001999.4(FBN2):c.4422C>T (p.Cys1474=) rs371629482 0.00001
NM_001999.4(FBN2):c.4453G>A (p.Asp1485Asn) rs187786356 0.00001
NM_001999.4(FBN2):c.477T>C (p.Cys159=) rs138601900 0.00001
NM_001999.4(FBN2):c.5225G>A (p.Arg1742Gln) rs774411234 0.00001
NM_001999.4(FBN2):c.5487C>T (p.Gly1829=) rs375136629 0.00001
NM_001999.4(FBN2):c.61C>T (p.Leu21Phe) rs201321678 0.00001
NM_001999.4(FBN2):c.6558A>G (p.Gln2186=) rs757216544 0.00001
NM_001999.4(FBN2):c.6598A>G (p.Met2200Val) rs766808076 0.00001
NM_001999.4(FBN2):c.6885G>A (p.Leu2295=) rs754211806 0.00001
NM_001999.4(FBN2):c.6990G>A (p.Arg2330=) rs28763928 0.00001
NM_001999.4(FBN2):c.7202G>A (p.Ser2401Asn) rs758124873 0.00001
NM_001999.4(FBN2):c.7262A>G (p.Gln2421Arg) rs764759689 0.00001
NM_001999.4(FBN2):c.7266C>T (p.Cys2422=) rs776227906 0.00001
NM_001999.4(FBN2):c.734G>A (p.Arg245Gln) rs747507457 0.00001
NM_001999.4(FBN2):c.7385A>G (p.Asn2462Ser) rs576501460 0.00001
NM_001999.4(FBN2):c.7396A>G (p.Ile2466Val) rs373370945 0.00001
NM_001999.4(FBN2):c.73G>A (p.Gly25Ser) rs763408652 0.00001
NM_001999.4(FBN2):c.7985A>G (p.Asn2662Ser) rs765867245 0.00001
NM_001999.4(FBN2):c.8099C>T (p.Ser2700Leu) rs776788539 0.00001
NM_001999.4(FBN2):c.8254G>A (p.Asp2752Asn) rs529742815 0.00001
NM_001999.4(FBN2):c.82G>T (p.Gly28Cys) rs772841538 0.00001
NM_001999.4(FBN2):c.8325C>T (p.Ser2775=) rs368712261 0.00001
NM_001999.4(FBN2):c.8437G>A (p.Gly2813Ser) rs199808954 0.00001
NM_001999.4(FBN2):c.8668A>G (p.Asn2890Asp) rs888064842 0.00001
NM_001999.4(FBN2):c.8675A>G (p.Asp2892Gly) rs768293070 0.00001
NM_001999.4(FBN2):c.86A>C (p.Gln29Pro) rs771712321 0.00001
NM_003036.4(SKI):c.471G>A (p.Gln157=) rs569206617 0.00001
NM_003036.4(SKI):c.504C>T (p.Pro168=) rs774588048 0.00001
NM_003238.6(TGFB2):c.501G>A (p.Glu167=) rs550789732 0.00001
NM_003239.5(TGFB3):c.798C>T (p.Arg266=) rs772654040 0.00001
NM_000138.5(FBN1):c.1057A>G (p.Ile353Val)
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.38T>G (p.Phe13Cys) rs773614956
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
NM_001032283.3(TMPO):c.396T>A (p.Gly132=) rs397516844
NM_001999.4(FBN2):c.1038A>G (p.Pro346=)
NM_001999.4(FBN2):c.1079-7T>C
NM_001999.4(FBN2):c.10A>G (p.Arg4Gly)
NM_001999.4(FBN2):c.1200C>A (p.Thr400=)
NM_001999.4(FBN2):c.134A>C (p.Gln45Pro)
NM_001999.4(FBN2):c.1364G>A (p.Gly455Glu)
NM_001999.4(FBN2):c.1423G>C (p.Gly475Arg) rs200440156
NM_001999.4(FBN2):c.18G>A (p.Arg6=)
NM_001999.4(FBN2):c.2359T>C (p.Leu787=)
NM_001999.4(FBN2):c.2457G>T (p.Leu819=)
NM_001999.4(FBN2):c.251G>A (p.Arg84Gln) rs747084358
NM_001999.4(FBN2):c.2892C>T (p.Gly964=)
NM_001999.4(FBN2):c.2909G>T (p.Arg970Leu)
NM_001999.4(FBN2):c.3148A>C (p.Thr1050Pro)
NM_001999.4(FBN2):c.3217+12C>A rs375688726
NM_001999.4(FBN2):c.3321C>T (p.Asp1107=)
NM_001999.4(FBN2):c.3354G>A (p.Glu1118=)
NM_001999.4(FBN2):c.3491G>A (p.Arg1164His) rs1297011367
NM_001999.4(FBN2):c.363T>C (p.Asp121=)
NM_001999.4(FBN2):c.3786A>C (p.Gly1262=)
NM_001999.4(FBN2):c.3848-10G>T rs140017238
NM_001999.4(FBN2):c.4135G>A (p.Asp1379Asn)
NM_001999.4(FBN2):c.4271A>C (p.Gln1424Pro)
NM_001999.4(FBN2):c.4283C>T (p.Thr1428Ile) rs367961012
NM_001999.4(FBN2):c.4341C>T (p.Cys1447=)
NM_001999.4(FBN2):c.4386C>T (p.Asn1462=)
NM_001999.4(FBN2):c.4472-12del rs758812755
NM_001999.4(FBN2):c.4472-12dup
NM_001999.4(FBN2):c.4485C>T (p.Cys1495=)
NM_001999.4(FBN2):c.4681G>A (p.Asp1561Asn)
NM_001999.4(FBN2):c.5079T>C (p.Ile1693=)
NM_001999.4(FBN2):c.5092G>T (p.Ala1698Ser)
NM_001999.4(FBN2):c.5481G>C (p.Gln1827His)
NM_001999.4(FBN2):c.5565C>T (p.Ser1855=)
NM_001999.4(FBN2):c.5598C>G (p.Asp1866Glu)
NM_001999.4(FBN2):c.5675-17A>T
NM_001999.4(FBN2):c.5811G>A (p.Glu1937=)
NM_001999.4(FBN2):c.5918-10T>C rs547697385
NM_001999.4(FBN2):c.5G>A (p.Gly2Glu) rs976599275
NM_001999.4(FBN2):c.6047-9del
NM_001999.4(FBN2):c.6167-4G>T rs370981323
NM_001999.4(FBN2):c.6412G>A (p.Asp2138Asn)
NM_001999.4(FBN2):c.6570C>T (p.Thr2190=)
NM_001999.4(FBN2):c.6657C>T (p.Ile2219=)
NM_001999.4(FBN2):c.6765C>T (p.Asn2255=) rs140044610
NM_001999.4(FBN2):c.67G>C (p.Ala23Pro) rs893243344
NM_001999.4(FBN2):c.6881-15del
NM_001999.4(FBN2):c.6924G>A (p.Arg2308=)
NM_001999.4(FBN2):c.6948C>A (p.Ile2316=) rs17608368
NM_001999.4(FBN2):c.7176G>A (p.Gln2392=)
NM_001999.4(FBN2):c.7201A>G (p.Ser2401Gly)
NM_001999.4(FBN2):c.7218T>G (p.Thr2406=)
NM_001999.4(FBN2):c.7449C>T (p.Asp2483=)
NM_001999.4(FBN2):c.7554G>A (p.Pro2518=)
NM_001999.4(FBN2):c.756G>A (p.Glu252=) rs565550310
NM_001999.4(FBN2):c.7650C>G (p.Thr2550=) rs140978642
NM_001999.4(FBN2):c.7734A>T (p.Gln2578His)
NM_001999.4(FBN2):c.7787G>T (p.Ser2596Ile)
NM_001999.4(FBN2):c.788G>A (p.Arg263Gln) rs769593495
NM_001999.4(FBN2):c.8034C>T (p.Cys2678=)
NM_001999.4(FBN2):c.8035G>A (p.Ala2679Thr) rs763870762
NM_001999.4(FBN2):c.8082C>G (p.His2694Gln) rs142755118
NM_001999.4(FBN2):c.809G>T (p.Arg270Leu) rs148971572
NM_001999.4(FBN2):c.8226G>A (p.Gly2742=)
NM_001999.4(FBN2):c.8407G>A (p.Val2803Ile)
NM_001999.4(FBN2):c.8538C>T (p.Arg2846=)
NM_001999.4(FBN2):c.8556G>A (p.Gly2852=)
NM_001999.4(FBN2):c.8557C>T (p.Leu2853Phe)
NM_001999.4(FBN2):c.8559C>T (p.Leu2853=) rs778576181
NM_001999.4(FBN2):c.857T>C (p.Ile286Thr)
NM_003036.4(SKI):c.1311C>G (p.Ala437=) rs140889128
NM_003036.4(SKI):c.1311C>T (p.Ala437=) rs140889128
NM_003238.6(TGFB2):c.511-10del rs376560786
NM_003238.6(TGFB2):c.755-5dup
NM_003239.5(TGFB3):c.921C>T (p.Cys307=) rs575379914
NM_003239.5(TGFB3):c.927-13dup rs1303198865

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