ClinVar Miner

List of variants in gene FBN2 reported by Illumina Clinical Services Laboratory,Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 269
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HGVS dbSNP
NM_001999.4(FBN2):c.*1009A>G
NM_001999.4(FBN2):c.*100A>C rs886059890
NM_001999.4(FBN2):c.*1050_*1052GTT[6] rs886059885
NM_001999.4(FBN2):c.*1102G>A
NM_001999.4(FBN2):c.*1111C>A rs886059884
NM_001999.4(FBN2):c.*1111C>T rs886059884
NM_001999.4(FBN2):c.*1118T>C rs776542113
NM_001999.4(FBN2):c.*1132A>G rs77373296
NM_001999.4(FBN2):c.*1191C>T rs557229598
NM_001999.4(FBN2):c.*119C>T rs3805618
NM_001999.4(FBN2):c.*1239A>G rs765057642
NM_001999.4(FBN2):c.*1277G>A rs7288
NM_001999.4(FBN2):c.*1315C>G rs886059883
NM_001999.4(FBN2):c.*1415G>A rs1050687
NM_001999.4(FBN2):c.*1420A>C rs886059882
NM_001999.4(FBN2):c.*1420_*1421dup rs143731656
NM_001999.4(FBN2):c.*1507A>G
NM_001999.4(FBN2):c.*1532G>A rs191801589
NM_001999.4(FBN2):c.*234T>C
NM_001999.4(FBN2):c.*244T>C rs886059889
NM_001999.4(FBN2):c.*273T>C rs142804569
NM_001999.4(FBN2):c.*274C>T
NM_001999.4(FBN2):c.*284C>T rs886059888
NM_001999.4(FBN2):c.*322_*323dup rs536242166
NM_001999.4(FBN2):c.*323dup rs536242166
NM_001999.4(FBN2):c.*371T>G rs531108136
NM_001999.4(FBN2):c.*372del rs544546746
NM_001999.4(FBN2):c.*514A>C rs551470283
NM_001999.4(FBN2):c.*557C>T rs886059887
NM_001999.4(FBN2):c.*635A>G rs27858
NM_001999.4(FBN2):c.*642A>G
NM_001999.4(FBN2):c.*671G>A rs886059886
NM_001999.4(FBN2):c.*686C>T
NM_001999.4(FBN2):c.*716A>G
NM_001999.4(FBN2):c.*733T>A rs13305
NM_001999.4(FBN2):c.*745C>G rs754492977
NM_001999.4(FBN2):c.*819A>G rs72783099
NM_001999.4(FBN2):c.*879C>T
NM_001999.4(FBN2):c.*93_*95TAA[2] rs199925656
NM_001999.4(FBN2):c.*962C>G
NM_001999.4(FBN2):c.-122G>T rs557716482
NM_001999.4(FBN2):c.-147C>T
NM_001999.4(FBN2):c.-173G>A
NM_001999.4(FBN2):c.-173G>C
NM_001999.4(FBN2):c.-190C>G
NM_001999.4(FBN2):c.-219C>G rs886059905
NM_001999.4(FBN2):c.-262C>T rs540026322
NM_001999.4(FBN2):c.-269A>G rs149771492
NM_001999.4(FBN2):c.-309A>G rs7732639
NM_001999.4(FBN2):c.-338G>A rs776638871
NM_001999.4(FBN2):c.-344G>C rs564044015
NM_001999.4(FBN2):c.-430A>C
NM_001999.4(FBN2):c.-435C>T rs78230270
NM_001999.4(FBN2):c.-448C>T rs529025715
NM_001999.4(FBN2):c.1007A>G (p.Asn336Ser)
NM_001999.4(FBN2):c.1040G>A (p.Arg347His) rs112428886
NM_001999.4(FBN2):c.1078+12A>C rs769211487
NM_001999.4(FBN2):c.110C>A (p.Pro37Gln) rs201255083
NM_001999.4(FBN2):c.111G>A (p.Pro37=) rs55715053
NM_001999.4(FBN2):c.1143G>T (p.Gly381=)
NM_001999.4(FBN2):c.1157T>C (p.Met386Thr)
NM_001999.4(FBN2):c.1181G>A (p.Arg394His) rs150790914
NM_001999.4(FBN2):c.1253T>C (p.Met418Thr)
NM_001999.4(FBN2):c.1285A>G (p.Ser429Gly) rs115242287
NM_001999.4(FBN2):c.1423G>A (p.Gly475Ser) rs200440156
NM_001999.4(FBN2):c.1435G>A (p.Gly479Arg) rs147346327
NM_001999.4(FBN2):c.1466-5C>T rs28763952
NM_001999.4(FBN2):c.1592G>C (p.Gly531Ala) rs34450503
NM_001999.4(FBN2):c.1685C>T (p.Ala562Val) rs886059902
NM_001999.4(FBN2):c.1821A>G (p.Glu607=)
NM_001999.4(FBN2):c.183C>G (p.Pro61=) rs73348287
NM_001999.4(FBN2):c.1850-9C>T rs199937209
NM_001999.4(FBN2):c.1961G>A (p.Arg654His) rs780589159
NM_001999.4(FBN2):c.1968T>C (p.Cys656=)
NM_001999.4(FBN2):c.2036C>T (p.Ser679Phe) rs760483684
NM_001999.4(FBN2):c.203C>T (p.Ala68Val) rs62390671
NM_001999.4(FBN2):c.2042G>A (p.Arg681His) rs548605398
NM_001999.4(FBN2):c.2060G>T (p.Gly687Val) rs769947673
NM_001999.4(FBN2):c.2099C>T (p.Thr700Ile) rs773667668
NM_001999.4(FBN2):c.2214A>T (p.Gly738=) rs201548788
NM_001999.4(FBN2):c.2249-12T>C rs776314725
NM_001999.4(FBN2):c.2252A>C (p.Glu751Ala) rs147610681
NM_001999.4(FBN2):c.2260G>A (p.Gly754Ser) rs145259927
NM_001999.4(FBN2):c.2427T>A (p.Ile809=) rs139686090
NM_001999.4(FBN2):c.2428+6T>A rs77493726
NM_001999.4(FBN2):c.2508G>A (p.Thr836=) rs372872626
NM_001999.4(FBN2):c.2536G>A (p.Glu846Lys) rs375666281
NM_001999.4(FBN2):c.2555-7A>G rs28763949
NM_001999.4(FBN2):c.2625T>C (p.Cys875=) rs371502563
NM_001999.4(FBN2):c.2698C>G (p.Leu900Val)
NM_001999.4(FBN2):c.2717G>A (p.Arg906His) rs370973542
NM_001999.4(FBN2):c.2778C>T (p.Ala926=) rs28763948
NM_001999.4(FBN2):c.2874G>A (p.Glu958=) rs765859878
NM_001999.4(FBN2):c.2893G>A (p.Val965Ile) rs154001
NM_001999.4(FBN2):c.2901A>G (p.Pro967=) rs185991527
NM_001999.4(FBN2):c.2902A>G (p.Asn968Asp) rs774248421
NM_001999.4(FBN2):c.2940C>T (p.Cys980=) rs143255082
NM_001999.4(FBN2):c.2941G>A (p.Glu981Lys) rs758694112
NM_001999.4(FBN2):c.297T>C (p.Pro99=) rs79375977
NM_001999.4(FBN2):c.2990-14C>T rs377500777
NM_001999.4(FBN2):c.3013T>C (p.Leu1005=) rs147633551
NM_001999.4(FBN2):c.3015G>A (p.Leu1005=) rs28763946
NM_001999.4(FBN2):c.3061C>T (p.Arg1021Cys) rs541842635
NM_001999.4(FBN2):c.3062G>A (p.Arg1021His) rs139620380
NM_001999.4(FBN2):c.3062G>C (p.Arg1021Pro) rs139620380
NM_001999.4(FBN2):c.3093G>A (p.Ala1031=)
NM_001999.4(FBN2):c.3144C>T (p.Tyr1048=) rs1801167
NM_001999.4(FBN2):c.3166G>T (p.Ala1056Ser) rs28763945
NM_001999.4(FBN2):c.3217+13G>A rs572013507
NM_001999.4(FBN2):c.3218-13A>T
NM_001999.4(FBN2):c.3273T>C (p.Asn1091=) rs116741030
NM_001999.4(FBN2):c.3277A>G (p.Ile1093Val) rs747248488
NM_001999.4(FBN2):c.3296G>A (p.Arg1099His) rs202050092
NM_001999.4(FBN2):c.3322A>G (p.Met1108Val)
NM_001999.4(FBN2):c.3341C>T (p.Thr1114Met) rs202219940
NM_001999.4(FBN2):c.3394G>A (p.Val1132Ile) rs138834515
NM_001999.4(FBN2):c.3424T>C (p.Cys1142Arg)
NM_001999.4(FBN2):c.3429C>A (p.Phe1143Leu) rs886059901
NM_001999.4(FBN2):c.3480C>T (p.Asp1160=) rs142323824
NM_001999.4(FBN2):c.3507T>C (p.Cys1169=)
NM_001999.4(FBN2):c.3518C>G (p.Thr1173Ser) rs199678757
NM_001999.4(FBN2):c.3577C>T (p.Pro1193Ser) rs749905043
NM_001999.4(FBN2):c.3655A>G (p.Met1219Val) rs201288931
NM_001999.4(FBN2):c.3676T>G (p.Ser1226Ala) rs202072752
NM_001999.4(FBN2):c.3724+11A>G rs886059900
NM_001999.4(FBN2):c.3752G>A (p.Gly1251Glu) rs767644891
NM_001999.4(FBN2):c.3762C>T (p.Asp1254=) rs2279582
NM_001999.4(FBN2):c.3767A>G (p.Gln1256Arg) rs139052603
NM_001999.4(FBN2):c.37T>C (p.Phe13Leu)
NM_001999.4(FBN2):c.3820C>T (p.Leu1274=) rs192602314
NM_001999.4(FBN2):c.3848-10G>T rs140017238
NM_001999.4(FBN2):c.3878T>C (p.Ile1293Thr)
NM_001999.4(FBN2):c.3980A>G (p.Asn1327Ser) rs762567430
NM_001999.4(FBN2):c.4035G>A (p.Lys1345=)
NM_001999.4(FBN2):c.4098A>C (p.Thr1366=) rs28763943
NM_001999.4(FBN2):c.4110G>A (p.Glu1370=)
NM_001999.4(FBN2):c.4141C>A (p.His1381Asn) rs78727187
NM_001999.4(FBN2):c.4206C>T (p.Asn1402=) rs34201226
NM_001999.4(FBN2):c.4222+12A>G rs79445561
NM_001999.4(FBN2):c.4246A>G (p.Thr1416Ala) rs200837433
NM_001999.4(FBN2):c.4298G>A (p.Arg1433His) rs143462011
NM_001999.4(FBN2):c.4312G>A (p.Glu1438Lys) rs56168072
NM_001999.4(FBN2):c.4444C>T (p.Pro1482Ser)
NM_001999.4(FBN2):c.4454A>G (p.Asp1485Gly) rs199665922
NM_001999.4(FBN2):c.4472-11A>T rs528062851
NM_001999.4(FBN2):c.4489T>G (p.Phe1497Val)
NM_001999.4(FBN2):c.4595-11G>C rs199640787
NM_001999.4(FBN2):c.4608T>C (p.Cys1536=)
NM_001999.4(FBN2):c.4642G>A (p.Val1548Ile) rs140313460
NM_001999.4(FBN2):c.4647C>T (p.Asn1549=) rs146662880
NM_001999.4(FBN2):c.4718-13T>C rs10044959
NM_001999.4(FBN2):c.472A>T (p.Thr158Ser) rs886059904
NM_001999.4(FBN2):c.4791C>T (p.Ile1597=) rs147040906
NM_001999.4(FBN2):c.4801G>A (p.Val1601Ile) rs762108847
NM_001999.4(FBN2):c.4824C>T (p.Cys1608=) rs886059899
NM_001999.4(FBN2):c.4863C>G (p.Cys1621Trp)
NM_001999.4(FBN2):c.4864C>G (p.Pro1622Ala)
NM_001999.4(FBN2):c.4902C>T (p.Pro1634=) rs201071253
NM_001999.4(FBN2):c.4914C>T (p.Gly1638=) rs1482008222
NM_001999.4(FBN2):c.518C>T (p.Thr173Ile) rs147157552
NM_001999.4(FBN2):c.5280G>T (p.Arg1760Ser) rs886059898
NM_001999.4(FBN2):c.5281A>T (p.Met1761Leu) rs886059897
NM_001999.4(FBN2):c.532C>T (p.Pro178Ser) rs765177174
NM_001999.4(FBN2):c.5353+10C>T rs113589974
NM_001999.4(FBN2):c.5447C>T (p.Pro1816Leu) rs149537608
NM_001999.4(FBN2):c.5448A>G (p.Pro1816=) rs138022198
NM_001999.4(FBN2):c.5487C>T (p.Gly1829=) rs375136629
NM_001999.4(FBN2):c.5495G>A (p.Arg1832His) rs140276399
NM_001999.4(FBN2):c.5496C>T (p.Arg1832=) rs35346129
NM_001999.4(FBN2):c.5587C>T (p.Arg1863Trp)
NM_001999.4(FBN2):c.5617dup (p.Ser1873fs) rs1561760194
NM_001999.4(FBN2):c.5670T>C (p.Cys1890=) rs74811638
NM_001999.4(FBN2):c.5674+7A>G rs367877964
NM_001999.4(FBN2):c.5675-9C>T rs27713
NM_001999.4(FBN2):c.5675-9del rs112666443
NM_001999.4(FBN2):c.5800+5G>A rs375487064
NM_001999.4(FBN2):c.5823T>C (p.His1941=) rs11955288
NM_001999.4(FBN2):c.5917+9T>G rs371439173
NM_001999.4(FBN2):c.6000A>G (p.Leu2000=) rs148293104
NM_001999.4(FBN2):c.6033C>G (p.Gly2011=)
NM_001999.4(FBN2):c.6167-4G>A rs370981323
NM_001999.4(FBN2):c.6228A>G (p.Pro2076=)
NM_001999.4(FBN2):c.6253C>G (p.Pro2085Ala) rs34845843
NM_001999.4(FBN2):c.6262G>T (p.Val2088Leu)
NM_001999.4(FBN2):c.6285A>G (p.Arg2095=) rs28763933
NM_001999.4(FBN2):c.629-9A>G rs56025995
NM_001999.4(FBN2):c.6292+12C>A rs10042349
NM_001999.4(FBN2):c.6437A>G (p.Asp2146Gly)
NM_001999.4(FBN2):c.6438C>T (p.Asp2146=) rs772832233
NM_001999.4(FBN2):c.6446T>C (p.Val2149Ala) rs191065419
NM_001999.4(FBN2):c.645G>T (p.Pro215=) rs764473594
NM_001999.4(FBN2):c.6511+15A>G rs56131649
NM_001999.4(FBN2):c.6511+5G>A rs200608284
NM_001999.4(FBN2):c.6551A>T (p.Asn2184Ile) rs149071226
NM_001999.4(FBN2):c.6583C>T (p.Arg2195Cys) rs886059896
NM_001999.4(FBN2):c.6591A>G (p.Glu2197=) rs886059895
NM_001999.4(FBN2):c.6615C>T (p.Asp2205=) rs28763931
NM_001999.4(FBN2):c.6628C>T (p.Arg2210Cys) rs200158069
NM_001999.4(FBN2):c.6655A>G (p.Ile2219Val) rs140821039
NM_001999.4(FBN2):c.6666G>A (p.Pro2222=) rs192923239
NM_001999.4(FBN2):c.6700A>G (p.Ser2234Gly)
NM_001999.4(FBN2):c.671T>C (p.Met224Thr) rs886038798
NM_001999.4(FBN2):c.6758-11C>T
NM_001999.4(FBN2):c.680G>A (p.Gly227Glu)
NM_001999.4(FBN2):c.6840G>T (p.Pro2280=) rs377742525
NM_001999.4(FBN2):c.6880+8C>T
NM_001999.4(FBN2):c.68C>G (p.Ala23Gly) rs199560824
NM_001999.4(FBN2):c.6910G>A (p.Asp2304Asn) rs368802769
NM_001999.4(FBN2):c.6931A>G (p.Met2311Val) rs32209
NM_001999.4(FBN2):c.6946A>T (p.Ile2316Phe) rs201220519
NM_001999.4(FBN2):c.6948C>A (p.Ile2316=) rs17608368
NM_001999.4(FBN2):c.6959T>C (p.Met2320Thr) rs749681942
NM_001999.4(FBN2):c.6994G>A (p.Asp2332Asn) rs886059894
NM_001999.4(FBN2):c.7012+7G>A rs199735209
NM_001999.4(FBN2):c.7013-5T>C rs28763927
NM_001999.4(FBN2):c.7137T>G (p.Leu2379=) rs765676702
NM_001999.4(FBN2):c.7138G>A (p.Asp2380Asn) rs886059893
NM_001999.4(FBN2):c.7181T>C (p.Ile2394Thr) rs28763926
NM_001999.4(FBN2):c.7200T>C (p.Ser2400=) rs190450
NM_001999.4(FBN2):c.7212C>T (p.Leu2404=) rs368506842
NM_001999.4(FBN2):c.7263G>A (p.Gln2421=) rs114376818
NM_001999.4(FBN2):c.728T>C (p.Ile243Thr) rs117524265
NM_001999.4(FBN2):c.7296G>T (p.Gln2432His) rs34600572
NM_001999.4(FBN2):c.7338T>C (p.Asp2446=)
NM_001999.4(FBN2):c.734G>A (p.Arg245Gln) rs747507457
NM_001999.4(FBN2):c.7380C>T (p.Cys2460=) rs147102633
NM_001999.4(FBN2):c.738G>A (p.Ala246=) rs150087436
NM_001999.4(FBN2):c.7418G>T (p.Arg2473Leu) rs28763925
NM_001999.4(FBN2):c.7471+6G>A rs200998513
NM_001999.4(FBN2):c.7582A>C (p.Lys2528Gln)
NM_001999.4(FBN2):c.764C>T (p.Pro255Leu) rs886059903
NM_001999.4(FBN2):c.7650C>G (p.Thr2550=) rs140978642
NM_001999.4(FBN2):c.76A>G (p.Thr26Ala) rs374922166
NM_001999.4(FBN2):c.7739C>T (p.Ser2580Leu) rs2291628
NM_001999.4(FBN2):c.7808T>C (p.Phe2603Ser) rs374507398
NM_001999.4(FBN2):c.7824C>T (p.Thr2608=) rs28763922
NM_001999.4(FBN2):c.7878C>T (p.His2626=) rs587780943
NM_001999.4(FBN2):c.7897G>A (p.Gly2633Ser) rs886059892
NM_001999.4(FBN2):c.8049G>A (p.Gly2683=) rs138044126
NM_001999.4(FBN2):c.8082C>A (p.His2694Gln) rs142755118
NM_001999.4(FBN2):c.8154C>T (p.Leu2718=) rs34119447
NM_001999.4(FBN2):c.8212G>A (p.Gly2738Arg)
NM_001999.4(FBN2):c.8239C>G (p.Leu2747Val) rs145353444
NM_001999.4(FBN2):c.8257G>A (p.Glu2753Lys) rs146781484
NM_001999.4(FBN2):c.8274C>T (p.Ser2758=) rs10070365
NM_001999.4(FBN2):c.8282C>T (p.Ala2761Val) rs201962592
NM_001999.4(FBN2):c.8283A>G (p.Ala2761=)
NM_001999.4(FBN2):c.829G>A (p.Val277Ile) rs146849637
NM_001999.4(FBN2):c.82G>C (p.Gly28Arg)
NM_001999.4(FBN2):c.8304C>T (p.Asn2768=) rs28763920
NM_001999.4(FBN2):c.8309A>G (p.Tyr2770Cys) rs546129957
NM_001999.4(FBN2):c.8332A>C (p.Lys2778Gln) rs371715068
NM_001999.4(FBN2):c.8347G>C (p.Glu2783Gln) rs76756898
NM_001999.4(FBN2):c.8351C>T (p.Pro2784Leu) rs144574441
NM_001999.4(FBN2):c.8364+7A>T rs185052980
NM_001999.4(FBN2):c.8365-13G>A rs779409691
NM_001999.4(FBN2):c.8376C>G (p.Ile2792Met) rs142747169
NM_001999.4(FBN2):c.8423A>G (p.Asn2808Ser)
NM_001999.4(FBN2):c.8426T>C (p.Leu2809Pro) rs863223591
NM_001999.4(FBN2):c.8541C>G (p.Ile2847Met)
NM_001999.4(FBN2):c.8552A>G (p.Asn2851Ser) rs886059891
NM_001999.4(FBN2):c.8574G>A (p.Thr2858=) rs573245869
NM_001999.4(FBN2):c.8601A>G (p.Thr2867=) rs542824837
NM_001999.4(FBN2):c.8674G>T (p.Asp2892Tyr) rs557212203
NM_001999.4(FBN2):c.8729A>G (p.Gln2910Arg)
NM_001999.4(FBN2):c.872A>C (p.Asn291Thr)
NM_001999.4(FBN2):c.8733C>G (p.Leu2911=) rs34383505
NM_001999.4(FBN2):c.953-8T>G rs201818403
NM_001999.4(FBN2):c.976C>T (p.Pro326Ser) rs28763954

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