ClinVar Miner

List of variants in gene FBN2 studied for Cardiovascular phenotype

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Gene type:
ClinVar version:
Total variants: 258
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HGVS dbSNP
NM_001999.4(FBN2):c.-2C>A rs776371080
NM_001999.4(FBN2):c.1011C>T (p.Thr337=) rs781086796
NM_001999.4(FBN2):c.1040G>A (p.Arg347His) rs112428886
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.1126G>T (p.Ala376Ser) rs746951402
NM_001999.4(FBN2):c.1152G>A (p.Thr384=) rs267600336
NM_001999.4(FBN2):c.1180C>T (p.Arg394Cys) rs563228953
NM_001999.4(FBN2):c.1194C>T (p.Ile398=) rs766004910
NM_001999.4(FBN2):c.1234G>A (p.Glu412Lys) rs962522833
NM_001999.4(FBN2):c.1256A>G (p.Asp419Gly) rs140464202
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.1423G>A (p.Gly475Ser) rs200440156
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.1505C>G (p.Ala502Gly) rs369405711
NM_001999.4(FBN2):c.150T>A (p.Ala50=) rs543546489
NM_001999.4(FBN2):c.1526G>T (p.Arg509Leu) rs199587570
NM_001999.4(FBN2):c.1553G>A (p.Arg518Gln) rs748051713
NM_001999.4(FBN2):c.1592G>C (p.Gly531Ala) rs34450503
NM_001999.4(FBN2):c.1651A>G (p.Asn551Asp) rs138389072
NM_001999.4(FBN2):c.1720A>G (p.Ile574Val) rs768073096
NM_001999.4(FBN2):c.1749G>A (p.Gly583=) rs75940000
NM_001999.4(FBN2):c.1780A>G (p.Thr594Ala) rs1554064868
NM_001999.4(FBN2):c.1804del (p.Cys602fs) rs886038824
NM_001999.4(FBN2):c.1836A>G (p.Gly612=) rs1399438169
NM_001999.4(FBN2):c.183C>G (p.Pro61=) rs73348287
NM_001999.4(FBN2):c.1844G>T (p.Cys615Phe) rs1060503507
NM_001999.4(FBN2):c.1885A>G (p.Asn629Asp) rs863223554
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.2161G>C (p.Gly721Arg) rs149733159
NM_001999.4(FBN2):c.217C>A (p.Arg73Ser) rs148493036
NM_001999.4(FBN2):c.2214A>T (p.Gly738=) rs201548788
NM_001999.4(FBN2):c.2260G>A (p.Gly754Ser) rs145259927
NM_001999.4(FBN2):c.2283T>C (p.Gly761=) rs1235214641
NM_001999.4(FBN2):c.2365G>A (p.Gly789Ser) rs886038969
NM_001999.4(FBN2):c.2427T>A (p.Ile809=) rs139686090
NM_001999.4(FBN2):c.244G>A (p.Val82Met) rs550387143
NM_001999.4(FBN2):c.2478C>G (p.Cys826Trp) rs1554125090
NM_001999.4(FBN2):c.2480G>A (p.Arg827Gln) rs150735582
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.2557A>C (p.Ile853Leu) rs148598779
NM_001999.4(FBN2):c.2625T>C (p.Cys875=) rs371502563
NM_001999.4(FBN2):c.2651G>C (p.Ser884Thr) rs139035999
NM_001999.4(FBN2):c.2684A>G (p.Lys895Arg) rs143565958
NM_001999.4(FBN2):c.2722G>A (p.Glu908Lys) rs1204772554
NM_001999.4(FBN2):c.2777C>A (p.Ala926Asp) rs138429045
NM_001999.4(FBN2):c.2778C>T (p.Ala926=) rs28763948
NM_001999.4(FBN2):c.27C>G (p.Leu9=) rs369714882
NM_001999.4(FBN2):c.2802G>A (p.Arg934=) rs140500093
NM_001999.4(FBN2):c.2836G>T (p.Ala946Ser) rs886038950
NM_001999.4(FBN2):c.2856G>A (p.Thr952=) rs556038110
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.294C>T (p.Cys98=) rs765214316
NM_001999.4(FBN2):c.2978G>A (p.Arg993His) rs774483323
NM_001999.4(FBN2):c.297T>C (p.Pro99=) rs79375977
NM_001999.4(FBN2):c.2996G>A (p.Arg999His) rs1342942240
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.3039C>G (p.Ile1013Met) rs1388119592
NM_001999.4(FBN2):c.3114G>C (p.Glu1038Asp) rs199938409
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.3235G>T (p.Ala1079Ser) rs774996980
NM_001999.4(FBN2):c.3296G>A (p.Arg1099His) rs202050092
NM_001999.4(FBN2):c.3342G>A (p.Thr1114=) rs532983875
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.3405G>A (p.Pro1135=) rs185809581
NM_001999.4(FBN2):c.3414T>C (p.Phe1138=) rs769005512
NM_001999.4(FBN2):c.3430G>A (p.Glu1144Lys) rs200060005
NM_001999.4(FBN2):c.3480C>T (p.Asp1160=) rs142323824
NM_001999.4(FBN2):c.3483A>G (p.Glu1161=) rs761867143
NM_001999.4(FBN2):c.3486T>G (p.Cys1162Trp) rs1554123064
NM_001999.4(FBN2):c.3490C>T (p.Arg1164Cys) rs886039059
NM_001999.4(FBN2):c.3519C>G (p.Thr1173=) rs369851490
NM_001999.4(FBN2):c.3582C>T (p.Ser1194=) rs767169845
NM_001999.4(FBN2):c.362A>G (p.Asp121Gly) rs770483769
NM_001999.4(FBN2):c.3702G>A (p.Thr1234=) rs374833053
NM_001999.4(FBN2):c.3710G>T (p.Arg1237Leu) rs142185964
NM_001999.4(FBN2):c.3719G>A (p.Cys1240Tyr) rs1554122896
NM_001999.4(FBN2):c.3736T>C (p.Cys1246Arg) rs1554122857
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.3839C>T (p.Ser1280Leu) rs200481467
NM_001999.4(FBN2):c.3884A>G (p.Asp1295Gly) rs775987665
NM_001999.4(FBN2):c.3919C>T (p.Arg1307Cys) rs922751471
NM_001999.4(FBN2):c.3958A>G (p.Met1320Val) rs759481427
NM_001999.4(FBN2):c.402T>C (p.Ser134=) rs189523150
NM_001999.4(FBN2):c.4096A>G (p.Thr1366Ala) rs768722316
NM_001999.4(FBN2):c.4098A>C (p.Thr1366=) rs28763943
NM_001999.4(FBN2):c.4141C>A (p.His1381Asn) rs78727187
NM_001999.4(FBN2):c.4184G>T (p.Cys1395Phe) rs886038935
NM_001999.4(FBN2):c.4201G>A (p.Gly1401Arg) rs1554122552
NM_001999.4(FBN2):c.4206C>T (p.Asn1402=) rs34201226
NM_001999.4(FBN2):c.4246A>G (p.Thr1416Ala) rs200837433
NM_001999.4(FBN2):c.4257T>C (p.Cys1419=) rs757117534
NM_001999.4(FBN2):c.4258A>G (p.Ser1420Gly) rs1407868144
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.4316G>A (p.Gly1439Asp) rs886039151
NM_001999.4(FBN2):c.432A>G (p.Lys144=) rs201247200
NM_001999.4(FBN2):c.4402G>A (p.Val1468Ile) rs199668238
NM_001999.4(FBN2):c.4407G>A (p.Pro1469=) rs546172367
NM_001999.4(FBN2):c.4454A>G (p.Asp1485Gly) rs199665922
NM_001999.4(FBN2):c.4495A>C (p.Asn1499His) rs771260299
NM_001999.4(FBN2):c.4497C>T (p.Asn1499=) rs368341114
NM_001999.4(FBN2):c.4559G>T (p.Gly1520Val) rs886038767
NM_001999.4(FBN2):c.460A>G (p.Met154Val) rs878854475
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.4724G>A (p.Arg1575His) rs776040052
NM_001999.4(FBN2):c.4757G>A (p.Arg1586Gln) rs143195229
NM_001999.4(FBN2):c.4757G>C (p.Arg1586Pro) rs143195229
NM_001999.4(FBN2):c.4763A>T (p.Asp1588Val) rs202218356
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.4829T>C (p.Leu1610Pro) rs886038891
NM_001999.4(FBN2):c.4851C>G (p.Pro1617=) rs759989646
NM_001999.4(FBN2):c.4864C>A (p.Pro1622Thr) rs750116860
NM_001999.4(FBN2):c.488A>G (p.His163Arg) rs1029299660
NM_001999.4(FBN2):c.4902C>T (p.Pro1634=) rs201071253
NM_001999.4(FBN2):c.4938C>T (p.Ile1646=) rs773597432
NM_001999.4(FBN2):c.4983C>T (p.Cys1661=) rs143907156
NM_001999.4(FBN2):c.4994A>G (p.Asn1665Ser) rs886038773
NM_001999.4(FBN2):c.5031C>T (p.Cys1677=) rs147452231
NM_001999.4(FBN2):c.5037A>C (p.Gln1679His) rs1554120349
NM_001999.4(FBN2):c.5112G>A (p.Gly1704=) rs143164479
NM_001999.4(FBN2):c.518C>T (p.Thr173Ile) rs147157552
NM_001999.4(FBN2):c.523T>C (p.Cys175Arg) rs886038942
NM_001999.4(FBN2):c.5275A>C (p.Lys1759Gln) rs201113098
NM_001999.4(FBN2):c.539G>A (p.Cys180Tyr) rs1554075372
NM_001999.4(FBN2):c.5448A>G (p.Pro1816=) rs138022198
NM_001999.4(FBN2):c.5496C>T (p.Arg1832=) rs35346129
NM_001999.4(FBN2):c.5531T>C (p.Leu1844Pro) rs755917639
NM_001999.4(FBN2):c.5640G>A (p.Ala1880=) rs762588295
NM_001999.4(FBN2):c.5670T>C (p.Cys1890=) rs74811638
NM_001999.4(FBN2):c.5754C>A (p.Ile1918=) rs1554119714
NM_001999.4(FBN2):c.5762A>G (p.Asn1921Ser) rs1160016215
NM_001999.4(FBN2):c.5787G>A (p.Gln1929=) rs746307443
NM_001999.4(FBN2):c.5823T>C (p.His1941=) rs11955288
NM_001999.4(FBN2):c.5834A>G (p.Asn1945Ser) rs863223578
NM_001999.4(FBN2):c.6000A>G (p.Leu2000=) rs148293104
NM_001999.4(FBN2):c.6077C>T (p.Ser2026Phe) rs139668142
NM_001999.4(FBN2):c.6118A>G (p.Arg2040Gly) rs886038814
NM_001999.4(FBN2):c.6138G>T (p.Gly2046=) rs150627604
NM_001999.4(FBN2):c.6167-4G>T rs370981323
NM_001999.4(FBN2):c.6253C>G (p.Pro2085Ala) rs34845843
NM_001999.4(FBN2):c.6280C>T (p.Arg2094Trp) rs1262453464
NM_001999.4(FBN2):c.6445+5G>A rs761871037
NM_001999.4(FBN2):c.6511+5G>A rs200608284
NM_001999.4(FBN2):c.6516C>T (p.Val2172=) rs904224193
NM_001999.4(FBN2):c.6551A>T (p.Asn2184Ile) rs149071226
NM_001999.4(FBN2):c.6615C>T (p.Asp2205=) rs28763931
NM_001999.4(FBN2):c.6638-2A>C rs886039200
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.6681A>G (p.Thr2227=) rs145681607
NM_001999.4(FBN2):c.6687C>T (p.Thr2229=) rs886039206
NM_001999.4(FBN2):c.671T>C (p.Met224Thr) rs886038798
NM_001999.4(FBN2):c.672G>T (p.Met224Ile) rs371292311
NM_001999.4(FBN2):c.6764A>G (p.Asn2255Ser) rs886039147
NM_001999.4(FBN2):c.6805A>G (p.Met2269Val) rs943225631
NM_001999.4(FBN2):c.6833C>A (p.Thr2278Lys) rs2307109
NM_001999.4(FBN2):c.6834G>A (p.Thr2278=) rs374853253
NM_001999.4(FBN2):c.6841A>T (p.Ile2281Phe) rs115223340
NM_001999.4(FBN2):c.6898G>A (p.Glu2300Lys) rs1419124277
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.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.6989G>A (p.Arg2330Lys) rs886038992
NM_001999.4(FBN2):c.6990G>A (p.Arg2330=) rs28763928
NM_001999.4(FBN2):c.7013-5T>C rs28763927
NM_001999.4(FBN2):c.7068C>T (p.Asn2356=) rs1554117256
NM_001999.4(FBN2):c.7085G>C (p.Arg2362Thr) rs771718967
NM_001999.4(FBN2):c.7112C>G (p.Ser2371Ter) rs1461140915
NM_001999.4(FBN2):c.7137T>G (p.Leu2379=) rs765676702
NM_001999.4(FBN2):c.7181T>C (p.Ile2394Thr) rs28763926
NM_001999.4(FBN2):c.7188A>G (p.Gln2396=) rs1554117125
NM_001999.4(FBN2):c.7195T>A (p.Ser2399Thr) rs1554117123
NM_001999.4(FBN2):c.7200T>C (p.Ser2400=) rs190450
NM_001999.4(FBN2):c.7201A>C (p.Ser2401Arg) rs777558947
NM_001999.4(FBN2):c.7205G>A (p.Arg2402His) rs148014419
NM_001999.4(FBN2):c.7212C>T (p.Leu2404=) rs368506842
NM_001999.4(FBN2):c.7250G>T (p.Gly2417Val) rs886038938
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.7317T>C (p.His2439=) rs1554117089
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>A (p.Arg2473Gln) rs28763925
NM_001999.4(FBN2):c.7418G>T (p.Arg2473Leu) rs28763925
NM_001999.4(FBN2):c.7496C>T (p.Pro2499Leu) rs199583859
NM_001999.4(FBN2):c.7511A>G (p.Tyr2504Cys) rs764032053
NM_001999.4(FBN2):c.7565T>C (p.Val2522Ala) rs886039005
NM_001999.4(FBN2):c.756G>A (p.Glu252=) rs565550310
NM_001999.4(FBN2):c.756G>T (p.Glu252Asp) rs565550310
NM_001999.4(FBN2):c.7593A>G (p.Lys2531=) rs28763923
NM_001999.4(FBN2):c.761G>C (p.Cys254Ser) rs755760127
NM_001999.4(FBN2):c.7650C>G (p.Thr2550=) rs140978642
NM_001999.4(FBN2):c.7653G>C (p.Leu2551=) rs886038893
NM_001999.4(FBN2):c.7659G>A (p.Gly2553=) rs763586091
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.7796G>A (p.Cys2599Tyr) rs1554116599
NM_001999.4(FBN2):c.7824C>T (p.Thr2608=) rs28763922
NM_001999.4(FBN2):c.7841-3C>T rs1554116417
NM_001999.4(FBN2):c.7879G>A (p.Gly2627Ser) rs369568420
NM_001999.4(FBN2):c.787C>T (p.Arg263Trp) rs151329128
NM_001999.4(FBN2):c.7901G>A (p.Gly2634Asp) rs756511141
NM_001999.4(FBN2):c.7938C>T (p.His2646=) rs886038837
NM_001999.4(FBN2):c.7963G>A (p.Glu2655Lys) rs753526426
NM_001999.4(FBN2):c.7987G>A (p.Ala2663Thr) rs1245151549
NM_001999.4(FBN2):c.8035G>T (p.Ala2679Ser) rs763870762
NM_001999.4(FBN2):c.8049G>A (p.Gly2683=) rs138044126
NM_001999.4(FBN2):c.8064G>A (p.Gln2688=) rs751485739
NM_001999.4(FBN2):c.8082C>A (p.His2694Gln) rs142755118
NM_001999.4(FBN2):c.8119A>C (p.Asn2707His) rs886039073
NM_001999.4(FBN2):c.8124C>T (p.Tyr2708=) rs201634501
NM_001999.4(FBN2):c.8127C>G (p.Gly2709=) rs141841206
NM_001999.4(FBN2):c.8154C>T (p.Leu2718=) rs34119447
NM_001999.4(FBN2):c.8193-4A>G rs200964477
NM_001999.4(FBN2):c.8196C>T (p.His2732=) rs780426123
NM_001999.4(FBN2):c.8239C>G (p.Leu2747Val) rs145353444
NM_001999.4(FBN2):c.8247A>G (p.Thr2749=) rs116413101
NM_001999.4(FBN2):c.8253C>T (p.Val2751=) rs140631421
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.8279A>C (p.Glu2760Ala) rs56023452
NM_001999.4(FBN2):c.8282C>T (p.Ala2761Val) rs201962592
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.8310T>C (p.Tyr2770=) rs761386167
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.8469C>T (p.Pro2823=) rs371397121
NM_001999.4(FBN2):c.8481C>G (p.Pro2827=) rs886038981
NM_001999.4(FBN2):c.8498G>A (p.Arg2833His) rs753753954
NM_001999.4(FBN2):c.8513A>G (p.Gln2838Arg) rs772928933
NM_001999.4(FBN2):c.8537G>A (p.Arg2846His) rs200345491
NM_001999.4(FBN2):c.8589C>T (p.Leu2863=) rs886038784
NM_001999.4(FBN2):c.8597G>T (p.Gly2866Val) rs886038818
NM_001999.4(FBN2):c.8733C>G (p.Leu2911=) rs34383505
NM_001999.4(FBN2):c.906A>G (p.Arg302=) rs1554069994
NM_001999.4(FBN2):c.976C>T (p.Pro326Ser) rs28763954

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