ClinVar Miner

List of variants in gene FBN2 studied for not specified

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 302
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HGVS dbSNP
NM_001999.4(FBN2):c.-17C>G rs372089451
NM_001999.4(FBN2):c.-24G>C rs190369608
NM_001999.4(FBN2):c.-33C>A rs1057521647
NM_001999.4(FBN2):c.1040G>A (p.Arg347His) rs112428886
NM_001999.4(FBN2):c.1053C>T (p.Thr351=) rs1554067080
NM_001999.4(FBN2):c.1078+12A>C rs769211487
NM_001999.4(FBN2):c.1078+20G>A rs1057524321
NM_001999.4(FBN2):c.1079-14T>G rs754310681
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.1167C>T (p.Cys389=) rs757599652
NM_001999.4(FBN2):c.1231+37C>G rs28763953
NM_001999.4(FBN2):c.1285A>G (p.Ser429Gly) rs115242287
NM_001999.4(FBN2):c.132G>C (p.Pro44=) rs199702573
NM_001999.4(FBN2):c.1338C>G (p.Gly446=) rs1060504933
NM_001999.4(FBN2):c.1398C>T (p.Gly466=) rs1554066010
NM_001999.4(FBN2):c.1410C>A (p.Gly470=) rs750103822
NM_001999.4(FBN2):c.1410C>T (p.Gly470=) rs750103822
NM_001999.4(FBN2):c.142C>A (p.Arg48=) rs1409799200
NM_001999.4(FBN2):c.1431G>A (p.Gly477=) rs759633050
NM_001999.4(FBN2):c.1435G>A (p.Gly479Arg) rs147346327
NM_001999.4(FBN2):c.1466-4G>A rs371636769
NM_001999.4(FBN2):c.1466-5C>T rs28763952
NM_001999.4(FBN2):c.158G>A (p.Gly53Asp) rs375093230
NM_001999.4(FBN2):c.1592G>C (p.Gly531Ala) rs34450503
NM_001999.4(FBN2):c.1604-5C>T rs530806742
NM_001999.4(FBN2):c.1749G>A (p.Gly583=) rs75940000
NM_001999.4(FBN2):c.1763dup (p.Asn588fs) rs863223595
NM_001999.4(FBN2):c.183C>G (p.Pro61=) rs73348287
NM_001999.4(FBN2):c.1849+12G>A rs777910433
NM_001999.4(FBN2):c.1850-9C>T rs199937209
NM_001999.4(FBN2):c.1902T>C (p.Asn634=) rs553052214
NM_001999.4(FBN2):c.1938A>G (p.Gly646=) rs1057518608
NM_001999.4(FBN2):c.1961G>C (p.Arg654Pro) rs780589159
NM_001999.4(FBN2):c.1973-20T>C rs774598343
NM_001999.4(FBN2):c.2013G>A (p.Gly671=) rs778762668
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.2095+7_2095+22delinsT rs1064794511
NM_001999.4(FBN2):c.2096-13del rs746826953
NM_001999.4(FBN2):c.2160C>T (p.Pro720=) rs889188442
NM_001999.4(FBN2):c.2161G>A (p.Gly721Ser) rs149733159
NM_001999.4(FBN2):c.2249-15C>A rs759195113
NM_001999.4(FBN2):c.2249-19A>G rs193091226
NM_001999.4(FBN2):c.2260G>A (p.Gly754Ser) rs145259927
NM_001999.4(FBN2):c.2358C>T (p.Asn786=) rs371981691
NM_001999.4(FBN2):c.2363G>A (p.Arg788His) rs368116715
NM_001999.4(FBN2):c.2427T>A (p.Ile809=) rs139686090
NM_001999.4(FBN2):c.2428+6T>A rs77493726
NM_001999.4(FBN2):c.2429-48T>C rs10519991
NM_001999.4(FBN2):c.2469C>T (p.Asn823=) rs770997817
NM_001999.4(FBN2):c.2487G>T (p.Thr829=) rs779455710
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.255-15G>A rs587780942
NM_001999.4(FBN2):c.255-18C>A rs200300875
NM_001999.4(FBN2):c.2555-184T>G rs62375019
NM_001999.4(FBN2):c.2555-7A>G rs28763949
NM_001999.4(FBN2):c.2625T>C (p.Cys875=) rs371502563
NM_001999.4(FBN2):c.2674+10A>G rs371734006
NM_001999.4(FBN2):c.2772C>T (p.Leu924=) rs773453872
NM_001999.4(FBN2):c.2778C>T (p.Ala926=) rs28763948
NM_001999.4(FBN2):c.2801G>A (p.Arg934Gln) rs376194507
NM_001999.4(FBN2):c.2802G>A (p.Arg934=) rs140500093
NM_001999.4(FBN2):c.2813-37C>A rs28763947
NM_001999.4(FBN2):c.2856G>T (p.Thr952=) rs556038110
NM_001999.4(FBN2):c.2863+23G>T rs255690
NM_001999.4(FBN2):c.2864-12A>G rs1234935460
NM_001999.4(FBN2):c.287_289del (p.Tyr96del) rs555068280
NM_001999.4(FBN2):c.2893G>A (p.Val965Ile) rs154001
NM_001999.4(FBN2):c.2940C>T (p.Cys980=) rs143255082
NM_001999.4(FBN2):c.297T>C (p.Pro99=) rs79375977
NM_001999.4(FBN2):c.2989+20G>A rs374450061
NM_001999.4(FBN2):c.2989+38A>C rs148276970
NM_001999.4(FBN2):c.2990-14C>T rs377500777
NM_001999.4(FBN2):c.2990-8C>T rs370825177
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.3045C>T (p.Pro1015=) rs371640952
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+12C>A rs375688726
NM_001999.4(FBN2):c.3217+13G>A rs572013507
NM_001999.4(FBN2):c.3217+18G>A rs1554123696
NM_001999.4(FBN2):c.3235G>T (p.Ala1079Ser) rs774996980
NM_001999.4(FBN2):c.3273T>C (p.Asn1091=) rs116741030
NM_001999.4(FBN2):c.3343+35T>A rs17676694
NM_001999.4(FBN2):c.3351C>T (p.Asp1117=) rs78484531
NM_001999.4(FBN2):c.3394G>A (p.Val1132Ile) rs138834515
NM_001999.4(FBN2):c.339G>A (p.Pro113=) rs144540627
NM_001999.4(FBN2):c.3414T>C (p.Phe1138=) rs769005512
NM_001999.4(FBN2):c.3472+17C>A rs747730357
NM_001999.4(FBN2):c.3480C>T (p.Asp1160=) rs142323824
NM_001999.4(FBN2):c.3518C>G (p.Thr1173Ser) rs199678757
NM_001999.4(FBN2):c.3655A>G (p.Met1219Val) rs201288931
NM_001999.4(FBN2):c.3690A>G (p.Gly1230=) rs774807410
NM_001999.4(FBN2):c.3740T>C (p.Met1247Thr) rs149054177
NM_001999.4(FBN2):c.3750C>T (p.Asn1250=) rs750559514
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.3847+5A>G rs1444917250
NM_001999.4(FBN2):c.3848-10G>A rs140017238
NM_001999.4(FBN2):c.3848-10G>T rs140017238
NM_001999.4(FBN2):c.3974-19T>C rs112950479
NM_001999.4(FBN2):c.4098A>C (p.Thr1366=) rs28763943
NM_001999.4(FBN2):c.4100-9G>T rs377002313
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.4222+5G>C rs1554122550
NM_001999.4(FBN2):c.4223-14G>T rs370506719
NM_001999.4(FBN2):c.4230C>T (p.Asp1410=) rs138289440
NM_001999.4(FBN2):c.4246A>G (p.Thr1416Ala) rs200837433
NM_001999.4(FBN2):c.4296C>T (p.Tyr1432=) rs147046215
NM_001999.4(FBN2):c.4311C>T (p.Ser1437=) rs138665246
NM_001999.4(FBN2):c.4312G>A (p.Glu1438Lys) rs56168072
NM_001999.4(FBN2):c.4345+19G>A rs886038503
NM_001999.4(FBN2):c.436+16G>A rs372098570
NM_001999.4(FBN2):c.436+20C>T rs1168120609
NM_001999.4(FBN2):c.4418G>A (p.Arg1473His) rs140812463
NM_001999.4(FBN2):c.4454A>G (p.Asp1485Gly) rs199665922
NM_001999.4(FBN2):c.4461A>T (p.Arg1487Ser) rs797045573
NM_001999.4(FBN2):c.4472-11A>T rs528062851
NM_001999.4(FBN2):c.4472-12T>A rs551686237
NM_001999.4(FBN2):c.4515A>G (p.Thr1505=) rs751938197
NM_001999.4(FBN2):c.4551C>T (p.Cys1517=) rs144018137
NM_001999.4(FBN2):c.4595-11G>C rs199640787
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.4690T>C (p.Leu1564=) rs886038504
NM_001999.4(FBN2):c.4717+25_4717+28del rs1064795498
NM_001999.4(FBN2):c.4718-13T>C rs10044959
NM_001999.4(FBN2):c.4773G>T (p.Leu1591=) rs753387547
NM_001999.4(FBN2):c.4779C>T (p.Cys1593=) rs780191346
NM_001999.4(FBN2):c.477T>C (p.Cys159=) rs138601900
NM_001999.4(FBN2):c.4791C>T (p.Ile1597=) rs147040906
NM_001999.4(FBN2):c.4879+7A>G rs555328744
NM_001999.4(FBN2):c.4902C>T (p.Pro1634=) rs201071253
NM_001999.4(FBN2):c.4949-18C>G rs372234336
NM_001999.4(FBN2):c.4962C>T (p.Cys1654=) rs753935960
NM_001999.4(FBN2):c.4983C>T (p.Cys1661=) rs143907156
NM_001999.4(FBN2):c.5031C>T (p.Cys1677=) rs147452231
NM_001999.4(FBN2):c.518C>T (p.Thr173Ile) rs147157552
NM_001999.4(FBN2):c.5196C>T (p.Cys1732=) rs1554120180
NM_001999.4(FBN2):c.5200+11A>C rs863223545
NM_001999.4(FBN2):c.5201-3T>C rs1057521162
NM_001999.4(FBN2):c.5201-6A>G rs879942478
NM_001999.4(FBN2):c.533-4G>T rs372596001
NM_001999.4(FBN2):c.533-6A>G rs56400997
NM_001999.4(FBN2):c.5353+10C>T rs113589974
NM_001999.4(FBN2):c.5353+11G>A rs572393472
NM_001999.4(FBN2):c.5353+16G>A rs187448568
NM_001999.4(FBN2):c.5353+19C>T rs183524866
NM_001999.4(FBN2):c.5353+20A>G rs759401474
NM_001999.4(FBN2):c.5424C>T (p.Asp1808=) rs774758393
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.5496C>T (p.Arg1832=) rs35346129
NM_001999.4(FBN2):c.5548+20T>C rs372334617
NM_001999.4(FBN2):c.5548+9A>C rs1057522115
NM_001999.4(FBN2):c.5549-18G>A rs371995872
NM_001999.4(FBN2):c.5670T>C (p.Cys1890=) rs74811638
NM_001999.4(FBN2):c.5674+18T>G rs199749609
NM_001999.4(FBN2):c.5674+7A>G rs367877964
NM_001999.4(FBN2):c.5675-10del rs886038505
NM_001999.4(FBN2):c.5675-12_5675-11insG rs150372632
NM_001999.4(FBN2):c.5675-13_5675-12insG rs1581202879
NM_001999.4(FBN2):c.5675-9C>T rs27713
NM_001999.4(FBN2):c.5675-9del rs112666443
NM_001999.4(FBN2):c.5678G>A (p.Arg1893His) rs368384428
NM_001999.4(FBN2):c.5703C>T (p.Asn1901=) rs746592808
NM_001999.4(FBN2):c.5800+20C>T rs1554119695
NM_001999.4(FBN2):c.5800+5G>A rs375487064
NM_001999.4(FBN2):c.5814C>T (p.Cys1938=) rs753556200
NM_001999.4(FBN2):c.5823T>C (p.His1941=) rs11955288
NM_001999.4(FBN2):c.5855T>C (p.Val1952Ala) rs372879535
NM_001999.4(FBN2):c.5914C>T (p.Leu1972=) rs1554119518
NM_001999.4(FBN2):c.5917+9T>G rs371439173
NM_001999.4(FBN2):c.5918-10T>C rs547697385
NM_001999.4(FBN2):c.5918-5T>A rs1057524021
NM_001999.4(FBN2):c.6000A>G (p.Leu2000=) rs148293104
NM_001999.4(FBN2):c.6063C>T (p.Val2021=) rs149380208
NM_001999.4(FBN2):c.6138G>T (p.Gly2046=) rs150627604
NM_001999.4(FBN2):c.6166+24G>A rs28763934
NM_001999.4(FBN2):c.6167-4G>A rs370981323
NM_001999.4(FBN2):c.6252C>T (p.Pro2084=) rs1057524589
NM_001999.4(FBN2):c.6285A>G (p.Arg2095=) rs28763933
NM_001999.4(FBN2):c.629-19T>C rs374428361
NM_001999.4(FBN2):c.629-9A>G rs56025995
NM_001999.4(FBN2):c.6292+12C>A rs10042349
NM_001999.4(FBN2):c.6297T>C (p.Thr2099=) rs770778839
NM_001999.4(FBN2):c.6450A>T (p.Ala2150=) rs1199375914
NM_001999.4(FBN2):c.6477T>C (p.His2159=) rs768972914
NM_001999.4(FBN2):c.6511+15A>G rs56131649
NM_001999.4(FBN2):c.6511+4C>T rs368610241
NM_001999.4(FBN2):c.6511+5G>A rs200608284
NM_001999.4(FBN2):c.6512-17G>C rs28763932
NM_001999.4(FBN2):c.6512-3T>C rs764271022
NM_001999.4(FBN2):c.6512-7A>G rs201462445
NM_001999.4(FBN2):c.6534C>T (p.Ser2178=) rs1057524084
NM_001999.4(FBN2):c.6551A>T (p.Asn2184Ile) rs149071226
NM_001999.4(FBN2):c.6573C>T (p.Asp2191=) rs374456115
NM_001999.4(FBN2):c.6615C>T (p.Asp2205=) rs28763931
NM_001999.4(FBN2):c.6637+39A>G rs17608435
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.6669T>C (p.Cys2223=) rs754724355
NM_001999.4(FBN2):c.6758-48T>C rs42688
NM_001999.4(FBN2):c.6840G>A (p.Pro2280=) rs377742525
NM_001999.4(FBN2):c.6840G>T (p.Pro2280=) rs377742525
NM_001999.4(FBN2):c.6841A>T (p.Ile2281Phe) rs115223340
NM_001999.4(FBN2):c.6880+17G>A rs2042327
NM_001999.4(FBN2):c.6881-5T>G rs772186151
NM_001999.4(FBN2):c.68C>G (p.Ala23Gly) rs199560824
NM_001999.4(FBN2):c.6903G>T (p.Gly2301=) rs886039130
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.6990G>A (p.Arg2330=) rs28763928
NM_001999.4(FBN2):c.69G>T (p.Ala23=) rs774856011
NM_001999.4(FBN2):c.6G>C (p.Gly2=) rs746567292
NM_001999.4(FBN2):c.7012+6C>T rs749376421
NM_001999.4(FBN2):c.7012+7G>A rs199735209
NM_001999.4(FBN2):c.7013-18T>C rs375140877
NM_001999.4(FBN2):c.7013-5T>C rs28763927
NM_001999.4(FBN2):c.7013-7T>A rs191729449
NM_001999.4(FBN2):c.7013-7del rs1554117268
NM_001999.4(FBN2):c.7058G>A (p.Arg2353His) rs775905979
NM_001999.4(FBN2):c.7137T>G (p.Leu2379=) rs765676702
NM_001999.4(FBN2):c.7139-13T>G rs886038506
NM_001999.4(FBN2):c.7167G>A (p.Glu2389=) rs761050040
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.7205G>A (p.Arg2402His) rs148014419
NM_001999.4(FBN2):c.728T>C (p.Ile243Thr) rs117524265
NM_001999.4(FBN2):c.7293C>T (p.Ala2431=) rs1057521075
NM_001999.4(FBN2):c.7296G>T (p.Gln2432His) rs34600572
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.7472-17A>G rs773888786
NM_001999.4(FBN2):c.7547C>T (p.Ser2516Leu) rs797045574
NM_001999.4(FBN2):c.7587A>G (p.Thr2529=) rs145809024
NM_001999.4(FBN2):c.7593A>G (p.Lys2531=) rs28763923
NM_001999.4(FBN2):c.7594+12G>A rs184678810
NM_001999.4(FBN2):c.7595-13T>C rs747620496
NM_001999.4(FBN2):c.7595-18G>C rs1554116721
NM_001999.4(FBN2):c.7595-8A>G rs878854479
NM_001999.4(FBN2):c.7650C>G (p.Thr2550=) rs140978642
NM_001999.4(FBN2):c.7658G>C (p.Gly2553Ala) rs764514988
NM_001999.4(FBN2):c.76A>G (p.Thr26Ala) rs374922166
NM_001999.4(FBN2):c.7712-5G>A rs766722063
NM_001999.4(FBN2):c.7719C>T (p.Asn2573=) rs746265117
NM_001999.4(FBN2):c.7739C>T (p.Ser2580Leu) rs2291628
NM_001999.4(FBN2):c.7824C>T (p.Thr2608=) rs28763922
NM_001999.4(FBN2):c.7841-16G>T rs201231807
NM_001999.4(FBN2):c.7841-17C>T rs371643668
NM_001999.4(FBN2):c.7878C>T (p.His2626=) rs587780943
NM_001999.4(FBN2):c.7960+13T>G rs1023942727
NM_001999.4(FBN2):c.7961-10G>A rs752746367
NM_001999.4(FBN2):c.7961-19T>A rs1057524211
NM_001999.4(FBN2):c.7977C>G (p.Ser2659=) rs1057524372
NM_001999.4(FBN2):c.7A>C (p.Arg3=) rs1466844222
NM_001999.4(FBN2):c.8043C>A (p.Pro2681=) rs149502195
NM_001999.4(FBN2):c.8046G>T (p.Ser2682=) rs771507975
NM_001999.4(FBN2):c.8049G>A (p.Gly2683=) rs138044126
NM_001999.4(FBN2):c.8061_8067delinsG (p.Asp2687_Phe2689delinsGlu) rs863223597
NM_001999.4(FBN2):c.8082C>T (p.His2694=) rs142755118
NM_001999.4(FBN2):c.8112C>T (p.Asn2704=) rs370851605
NM_001999.4(FBN2):c.8124C>T (p.Tyr2708=) rs201634501
NM_001999.4(FBN2):c.8139G>A (p.Thr2713=) rs1057523293
NM_001999.4(FBN2):c.8154C>T (p.Leu2718=) rs34119447
NM_001999.4(FBN2):c.8192+6G>A rs752575354
NM_001999.4(FBN2):c.8193-18T>A rs1057521159
NM_001999.4(FBN2):c.8193-6A>G rs371741283
NM_001999.4(FBN2):c.8196C>T (p.His2732=) rs780426123
NM_001999.4(FBN2):c.81C>T (p.Ala27=) rs746484599
NM_001999.4(FBN2):c.8247A>G (p.Thr2749=) rs116413101
NM_001999.4(FBN2):c.8257G>A (p.Glu2753Lys) rs146781484
NM_001999.4(FBN2):c.827-19A>G rs199559284
NM_001999.4(FBN2):c.8274C>T (p.Ser2758=) rs10070365
NM_001999.4(FBN2):c.829G>A (p.Val277Ile) rs146849637
NM_001999.4(FBN2):c.8304C>T (p.Asn2768=) rs28763920
NM_001999.4(FBN2):c.8332A>C (p.Lys2778Gln) rs371715068
NM_001999.4(FBN2):c.8344C>T (p.His2782Tyr) rs745600341
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.8469C>T (p.Pro2823=) rs371397121
NM_001999.4(FBN2):c.8530G>A (p.Val2844Ile) rs147134796
NM_001999.4(FBN2):c.8537G>A (p.Arg2846His) rs200345491
NM_001999.4(FBN2):c.8595C>T (p.Pro2865=) rs137914321
NM_001999.4(FBN2):c.8674G>T (p.Asp2892Tyr) rs557212203
NM_001999.4(FBN2):c.8733C>G (p.Leu2911=) rs34383505
NM_001999.4(FBN2):c.93G>T (p.Gln31His) rs371491169
NM_001999.4(FBN2):c.952+11C>T rs1157854895
NM_001999.4(FBN2):c.953-8T>G rs201818403
NM_001999.4(FBN2):c.973A>G (p.Ile325Val) rs748879016
NM_001999.4(FBN2):c.976C>T (p.Pro326Ser) rs28763954

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