ClinVar Miner

List of variants in gene FBN1 reported as pathogenic for not provided

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Gene type:
ClinVar version:
Total variants: 394
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HGVS dbSNP gnomAD frequency
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054 0.00002
NM_000138.5(FBN1):c.1693C>T (p.Arg565Ter) rs113422242 0.00001
NM_000138.5(FBN1):c.1879C>T (p.Arg627Cys) rs727503057 0.00001
NM_000138.5(FBN1):c.2920C>T (p.Arg974Cys) rs397514558 0.00001
NM_000138.5(FBN1):c.3463G>A (p.Asp1155Asn) rs794728204 0.00001
NM_000138.5(FBN1):c.4460-8G>A rs193922204 0.00001
NM_000138.5(FBN1):c.5788+5G>A rs193922219 0.00001
NM_000138.5(FBN1):c.6113G>A (p.Cys2038Tyr) rs363804 0.00001
NM_000138.5(FBN1):c.6354C>T (p.Ile2118=) rs112989722 0.00001
NM_000138.5(FBN1):c.6448C>T (p.Arg2150Cys) rs76702162 0.00001
NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr) rs193922228 0.00001
NM_000138.5(FBN1):c.7916A>G (p.Tyr2639Cys) rs794728280 0.00001
NM_000138.5(FBN1):c.8326C>T (p.Arg2776Ter) rs137854466 0.00001
GRCh37/hg19 15q21.1(chr15:48805746-48808559)x1
NC_000015.10:g.48448846_48448847dup rs886043709
NM_000138.5(FBN1):c.-36_5del (p.Met1fs) rs2140787904
NM_000138.5(FBN1):c.1148-2A>C rs397515756
NM_000138.5(FBN1):c.1148-2A>G rs397515756
NM_000138.5(FBN1):c.1179_1180dup (p.Val394fs) rs886041751
NM_000138.5(FBN1):c.1211del (p.Pro404fs) rs112289537
NM_000138.5(FBN1):c.127A>T (p.Lys43Ter) rs751270801
NM_000138.5(FBN1):c.1285C>T (p.Arg429Ter) rs112645512
NM_000138.5(FBN1):c.1297_1300dup (p.Tyr434Ter) rs794728341
NM_000138.5(FBN1):c.1331dup (p.Leu445fs)
NM_000138.5(FBN1):c.1361_1371del (p.Gln454fs) rs1064793723
NM_000138.5(FBN1):c.1421G>A (p.Cys474Tyr) rs794728166
NM_000138.5(FBN1):c.1421G>T (p.Cys474Phe) rs794728166
NM_000138.5(FBN1):c.1426T>G (p.Cys476Gly) rs794728326
NM_000138.5(FBN1):c.1459G>T (p.Glu487Ter) rs1555400374
NM_000138.5(FBN1):c.1468+2T>C rs794728167
NM_000138.5(FBN1):c.1468+5G>A rs397515757
NM_000138.5(FBN1):c.1526del (p.Gly509fs)
NM_000138.5(FBN1):c.1545_1546inv (p.Cys515_Arg516delinsTrpGly)
NM_000138.5(FBN1):c.1546C>T (p.Arg516Ter) rs113812345
NM_000138.5(FBN1):c.1570dup (p.Thr524fs) rs1555400274
NM_000138.5(FBN1):c.1584C>A (p.Cys528Ter)
NM_000138.5(FBN1):c.1585C>T (p.Arg529Ter) rs137854476
NM_000138.5(FBN1):c.1589-1217G>T
NM_000138.5(FBN1):c.1589-9T>A rs1597578071
NM_000138.5(FBN1):c.1624_1634del (p.Asn542fs) rs794728296
NM_000138.5(FBN1):c.1633C>T (p.Arg545Cys) rs730880099
NM_000138.5(FBN1):c.164+1G>A rs794728213
NM_000138.5(FBN1):c.1664G>T (p.Cys555Phe) rs794728172
NM_000138.5(FBN1):c.1670G>A (p.Cys557Tyr) rs1057521102
NM_000138.5(FBN1):c.1679dup (p.Phe561fs) rs794728297
NM_000138.5(FBN1):c.1715-2A>G rs2043733370
NM_000138.5(FBN1):c.1726T>C (p.Cys576Arg) rs794728174
NM_000138.5(FBN1):c.1726T>G (p.Cys576Gly) rs794728174
NM_000138.5(FBN1):c.1746C>G (p.Cys582Trp)
NM_000138.5(FBN1):c.1759T>G (p.Cys587Gly) rs1555399968
NM_000138.5(FBN1):c.1786T>G (p.Cys596Gly) rs1057520131
NM_000138.5(FBN1):c.1787G>A (p.Cys596Tyr) rs2043732180
NM_000138.5(FBN1):c.1817C>A (p.Ser606Ter) rs794728176
NM_000138.5(FBN1):c.1838-1G>T rs1555399840
NM_000138.5(FBN1):c.184C>T (p.Arg62Cys) rs25403
NM_000138.5(FBN1):c.1851T>G (p.Cys617Trp) rs2141317460
NM_000138.5(FBN1):c.1880_1881del (p.Arg627fs) rs1555399827
NM_000138.5(FBN1):c.1889A>T (p.Asn630Ile) rs794728178
NM_000138.5(FBN1):c.1890C>A (p.Asn630Lys) rs794728179
NM_000138.5(FBN1):c.1904A>G (p.Tyr635Cys) rs1555399816
NM_000138.5(FBN1):c.1911_1915del (p.Cys637fs)
NM_000138.5(FBN1):c.1948C>T (p.Arg650Cys) rs193922185
NM_000138.5(FBN1):c.1957_1958del (p.Cys652_Val653insTer) rs886041350
NM_000138.5(FBN1):c.1A>G (p.Met1Val) rs730880097
NM_000138.5(FBN1):c.2001_2002del (p.Gly668fs)
NM_000138.5(FBN1):c.2003_2007dup (p.Cys670fs) rs1555399769
NM_000138.5(FBN1):c.2023_2026del (p.Phe675fs) rs886041349
NM_000138.5(FBN1):c.2048G>A (p.Cys683Tyr) rs2141315817
NM_000138.5(FBN1):c.2050T>C (p.Cys684Arg) rs1555399764
NM_000138.5(FBN1):c.2050_2054dup (p.Ala686fs) rs1555399762
NM_000138.5(FBN1):c.2051G>A (p.Cys684Tyr) rs1555399763
NM_000138.5(FBN1):c.2055C>A (p.Cys685Ter) rs140603
NM_000138.5(FBN1):c.2094del (p.Cys699fs) rs886039360
NM_000138.5(FBN1):c.2113+1G>C rs1566913670
NM_000138.5(FBN1):c.2114-2A>C rs886041440
NM_000138.5(FBN1):c.212G>C (p.Trp71Ser) rs794728289
NM_000138.5(FBN1):c.2179T>C (p.Cys727Arg) rs1064794025
NM_000138.5(FBN1):c.2180dup (p.Cys727fs) rs794728299
NM_000138.5(FBN1):c.2201G>T (p.Cys734Phe) rs794728187
NM_000138.5(FBN1):c.2216G>A (p.Cys739Tyr) rs1555399378
NM_000138.5(FBN1):c.2237A>G (p.Tyr746Cys) rs1555399372
NM_000138.5(FBN1):c.2243G>A (p.Cys748Tyr) rs1064794282
NM_000138.5(FBN1):c.2254del (p.Ser752fs) rs1057518554
NM_000138.5(FBN1):c.225del (p.Gly76fs) rs794728324
NM_000138.5(FBN1):c.2262T>G (p.Tyr754Ter)
NM_000138.5(FBN1):c.2269del (p.Asp757fs) rs1064793636
NM_000138.5(FBN1):c.2294-1G>T rs1064793914
NM_000138.5(FBN1):c.2296del (p.Ile766fs) rs2141305162
NM_000138.5(FBN1):c.2341T>C (p.Cys781Arg) rs397515766
NM_000138.5(FBN1):c.2369G>A (p.Cys790Tyr) rs193922188
NM_000138.5(FBN1):c.2369G>T (p.Cys790Phe) rs193922188
NM_000138.5(FBN1):c.2412_2413del (p.Thr804_Cys805insTer) rs397515769
NM_000138.5(FBN1):c.2419+2T>G rs1597569536
NM_000138.5(FBN1):c.2433C>A (p.Cys811Ter) rs193921256
NM_000138.5(FBN1):c.247+1G>A rs25404
NM_000138.5(FBN1):c.2495G>A (p.Cys832Tyr) rs397515775
NM_000138.5(FBN1):c.2495G>T (p.Cys832Phe) rs397515775
NM_000138.5(FBN1):c.254G>A (p.Cys85Tyr)
NM_000138.5(FBN1):c.2569_2570del (p.Val857fs) rs794728301
NM_000138.5(FBN1):c.2581C>T (p.Arg861Ter) rs140583
NM_000138.5(FBN1):c.2598_2601dup (p.Gly868fs) rs1555399159
NM_000138.5(FBN1):c.2601dup (p.Gly868fs) rs794728302
NM_000138.5(FBN1):c.2638G>A (p.Gly880Ser) rs794728194
NM_000138.5(FBN1):c.2645C>T (p.Ala882Val) rs794728195
NM_000138.5(FBN1):c.2668T>A (p.Cys890Ser) rs1555399145
NM_000138.5(FBN1):c.2669G>A (p.Cys890Tyr) rs1555399144
NM_000138.5(FBN1):c.266G>A (p.Cys89Tyr) rs112660651
NM_000138.5(FBN1):c.266G>T (p.Cys89Phe) rs112660651
NM_000138.5(FBN1):c.2670C>A (p.Cys890Ter) rs2141303490
NM_000138.5(FBN1):c.2671C>T (p.Gln891Ter) rs794728196
NM_000138.5(FBN1):c.2701del (p.Ser901fs) rs794728303
NM_000138.5(FBN1):c.2712_2716del (p.Lys904fs) rs794728304
NM_000138.5(FBN1):c.2712del (p.Gly905fs) rs1064793946
NM_000138.5(FBN1):c.2723G>A (p.Cys908Tyr) rs1057523406
NM_000138.5(FBN1):c.2728+1G>C rs794728322
NM_000138.5(FBN1):c.2753del (p.Pro918fs)
NM_000138.5(FBN1):c.2761T>A (p.Cys921Ser) rs1597567249
NM_000138.5(FBN1):c.2762_2763del (p.Val920_Cys921insTer) rs2141300459
NM_000138.5(FBN1):c.2768dup (p.Asn923fs) rs1597567246
NM_000138.5(FBN1):c.2806C>T (p.Gln936Ter) rs794728197
NM_000138.5(FBN1):c.2810G>A (p.Cys937Tyr) rs113602180
NM_000138.5(FBN1):c.2814del (p.Ser939fs) rs1131691766
NM_000138.5(FBN1):c.2816del (p.Ser939fs) rs1555398976
NM_000138.5(FBN1):c.2854+1G>T rs112809590
NM_000138.5(FBN1):c.2860C>T (p.Arg954Cys) rs1555398835
NM_000138.5(FBN1):c.2902_2920del (p.Thr968fs) rs1064793770
NM_000138.5(FBN1):c.2963G>A (p.Trp988Ter) rs2043543553
NM_000138.5(FBN1):c.2964G>A (p.Trp988Ter)
NM_000138.5(FBN1):c.2964_2971del (p.Trp988_Glu991delinsTer) rs878853095
NM_000138.5(FBN1):c.2987G>A (p.Cys996Tyr) rs2141297233
NM_000138.5(FBN1):c.2T>C (p.Met1Thr) rs886041536
NM_000138.5(FBN1):c.2T>G (p.Met1Arg) rs886041536
NM_000138.5(FBN1):c.3012C>G (p.Tyr1004Ter) rs397515784
NM_000138.5(FBN1):c.3037G>A (p.Gly1013Arg) rs140593
NM_000138.5(FBN1):c.3091G>A (p.Glu1031Lys) rs1555398685
NM_000138.5(FBN1):c.3127A>T (p.Lys1043Ter) rs2141295258
NM_000138.5(FBN1):c.3143T>C (p.Ile1048Thr) rs1555398673
NM_000138.5(FBN1):c.3164G>A (p.Cys1055Tyr) rs397515786
NM_000138.5(FBN1):c.3173G>T (p.Gly1058Val) rs794728202
NM_000138.5(FBN1):c.3217G>A (p.Glu1073Lys) rs137854478
NM_000138.5(FBN1):c.3217G>T (p.Glu1073Ter) rs137854478
NM_000138.5(FBN1):c.3221G>A (p.Cys1074Tyr) rs1555398645
NM_000138.5(FBN1):c.3238del (p.Leu1080fs) rs886039549
NM_000138.5(FBN1):c.3253C>T (p.Gln1085Ter) rs1555398640
NM_000138.5(FBN1):c.3256T>C (p.Cys1086Arg) rs1555398637
NM_000138.5(FBN1):c.3258del (p.Cys1086fs) rs1085307786
NM_000138.5(FBN1):c.3265del (p.Thr1089fs) rs1064793510
NM_000138.5(FBN1):c.3337+2T>C rs2141294575
NM_000138.5(FBN1):c.3344A>G (p.Asp1115Gly) rs794728203
NM_000138.5(FBN1):c.3370T>C (p.Cys1124Arg) rs2141293730
NM_000138.5(FBN1):c.3373C>T (p.Arg1125Ter) rs727505006
NM_000138.5(FBN1):c.3379G>A (p.Gly1127Ser) rs137854468
NM_000138.5(FBN1):c.3401dup (p.Ser1135fs) rs794728342
NM_000138.5(FBN1):c.3408C>G (p.Tyr1136Ter)
NM_000138.5(FBN1):c.3412T>C (p.Cys1138Arg) rs1131691806
NM_000138.5(FBN1):c.3450_3458delinsGTCCGCGTT (p.Ile1150_Cys1153delinsMetSerAlaPhe) rs1064796522
NM_000138.5(FBN1):c.3458G>A (p.Cys1153Tyr) rs140599
NM_000138.5(FBN1):c.3513C>A (p.Cys1171Ter) rs775417975
NM_000138.5(FBN1):c.3524_3525del (p.Ile1175fs) rs2141293230
NM_000138.5(FBN1):c.3545G>C (p.Cys1182Ser)
NM_000138.5(FBN1):c.355T>G (p.Cys119Gly)
NM_000138.5(FBN1):c.3563C>A (p.Ser1188Ter) rs1057520181
NM_000138.5(FBN1):c.3583dup (p.Cys1195fs)
NM_000138.5(FBN1):c.3635G>C (p.Cys1212Ser) rs1057522908
NM_000138.5(FBN1):c.364C>T (p.Arg122Cys) rs137854467
NM_000138.5(FBN1):c.3656A>G (p.Tyr1219Cys) rs1555398394
NM_000138.5(FBN1):c.3670C>T (p.Gln1224Ter)
NM_000138.5(FBN1):c.3712+1G>A rs794728209
NM_000138.5(FBN1):c.3713-2A>T rs1131691604
NM_000138.5(FBN1):c.3757C>T (p.Gln1253Ter) rs1131691311
NM_000138.5(FBN1):c.3773del (p.Pro1258fs) rs794728343
NM_000138.5(FBN1):c.3795T>A (p.Cys1265Ter) rs1555398278
NM_000138.5(FBN1):c.3804del (p.Phe1269fs) rs2141289602
NM_000138.5(FBN1):c.3834T>G (p.Cys1278Trp) rs886039492
NM_000138.5(FBN1):c.3839-1G>T rs794728211
NM_000138.5(FBN1):c.3897_3903del (p.Lys1300fs)
NM_000138.5(FBN1):c.3958T>C (p.Cys1320Arg) rs1597558920
NM_000138.5(FBN1):c.3964+1G>A rs794728212
NM_000138.5(FBN1):c.3964G>A (p.Asp1322Asn)
NM_000138.5(FBN1):c.3974A>C (p.Glu1325Ala) rs794728331
NM_000138.5(FBN1):c.3G>A (p.Met1Ile) rs886039072
NM_000138.5(FBN1):c.401G>A (p.Cys134Tyr) rs1555405043
NM_000138.5(FBN1):c.4022A>G (p.Asn1341Ser) rs140638
NM_000138.5(FBN1):c.4050C>A (p.Cys1350Ter) rs201058219
NM_000138.5(FBN1):c.4061G>A (p.Trp1354Ter) rs1060501039
NM_000138.5(FBN1):c.4062G>A (p.Trp1354Ter) rs794728215
NM_000138.5(FBN1):c.408C>A (p.Cys136Ter) rs1555405039
NM_000138.5(FBN1):c.4096G>A (p.Glu1366Lys) rs763449629
NM_000138.5(FBN1):c.4121G>A (p.Cys1374Tyr) rs2141279835
NM_000138.5(FBN1):c.4160dup (p.Tyr1387Ter)
NM_000138.5(FBN1):c.4166G>C (p.Cys1389Ser) rs1060501026
NM_000138.5(FBN1):c.4177_4199del (p.Glu1393fs) rs1566906389
NM_000138.5(FBN1):c.4337-2A>G rs794728216
NM_000138.5(FBN1):c.434G>A (p.Cys145Tyr) rs878853682
NM_000138.5(FBN1):c.4405del (p.Arg1469fs) rs794728308
NM_000138.5(FBN1):c.4408del (p.Cys1470fs) rs2141275716
NM_000138.5(FBN1):c.4425del (p.Tyr1476fs) rs794728309
NM_000138.5(FBN1):c.4429G>T (p.Glu1477Ter) rs869025407
NM_000138.5(FBN1):c.4429dup (p.Glu1477fs) rs794728310
NM_000138.5(FBN1):c.4460-2A>T
NM_000138.5(FBN1):c.4531_4534del (p.Cys1511fs) rs1555397206
NM_000138.5(FBN1):c.4539C>G (p.Cys1513Trp) rs1555397203
NM_000138.5(FBN1):c.4567C>T (p.Arg1523Ter) rs397515812
NM_000138.5(FBN1):c.4575del (p.Cys1526fs) rs1555397198
NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys) rs111401431
NM_000138.5(FBN1):c.4615C>T (p.Arg1539Ter) rs111231312
NM_000138.5(FBN1):c.4621C>T (p.Arg1541Ter) rs794728228
NM_000138.5(FBN1):c.466_469del (p.Asn156fs) rs1085307490
NM_000138.5(FBN1):c.4730G>A (p.Cys1577Tyr)
NM_000138.5(FBN1):c.4759del (p.Ile1587fs) rs1057518188
NM_000138.5(FBN1):c.4786C>T (p.Arg1596Ter) rs113871094
NM_000138.5(FBN1):c.4816+2T>C rs1597547226
NM_000138.5(FBN1):c.4817-1G>A rs2141269787
NM_000138.5(FBN1):c.4888C>T (p.Gln1630Ter) rs794728231
NM_000138.5(FBN1):c.4930C>T (p.Arg1644Ter) rs140630
NM_000138.5(FBN1):c.4937G>A (p.Cys1646Tyr) rs397515814
NM_000138.5(FBN1):c.493C>T (p.Arg165Ter) rs113905529
NM_000138.5(FBN1):c.4943-2A>G rs2141267795
NM_000138.5(FBN1):c.5014T>G (p.Cys1672Gly) rs112930491
NM_000138.5(FBN1):c.5015G>A (p.Cys1672Tyr) rs140627
NM_000138.5(FBN1):c.5015G>T (p.Cys1672Phe) rs140627
NM_000138.5(FBN1):c.5021G>T (p.Cys1674Phe) rs794728233
NM_000138.5(FBN1):c.503G>T (p.Cys168Phe) rs1555404803
NM_000138.5(FBN1):c.5059T>C (p.Cys1687Arg) rs2141267582
NM_000138.5(FBN1):c.5060G>C (p.Cys1687Ser)
NM_000138.5(FBN1):c.5060G>T (p.Cys1687Phe)
NM_000138.5(FBN1):c.5065+1G>A rs1296209846
NM_000138.5(FBN1):c.5065+1G>C rs1296209846
NM_000138.5(FBN1):c.5065+1G>T rs1296209846
NM_000138.5(FBN1):c.5066-1G>T rs397515819
NM_000138.5(FBN1):c.5097C>G (p.Tyr1699Ter) rs368979510
NM_000138.5(FBN1):c.5099A>G (p.Tyr1700Cys) rs387906626
NM_000138.5(FBN1):c.510C>G (p.Tyr170Ter) rs111671429
NM_000138.5(FBN1):c.5183C>T (p.Ala1728Val) rs1131691804
NM_000138.5(FBN1):c.5197T>G (p.Cys1733Gly) rs794728235
NM_000138.5(FBN1):c.5198G>T (p.Cys1733Phe)
NM_000138.5(FBN1):c.5203dup (p.Gln1735fs) rs1555396760
NM_000138.5(FBN1):c.5208T>A (p.Cys1736Ter) rs794728234
NM_000138.5(FBN1):c.5219_5224+1dup rs1555396754
NM_000138.5(FBN1):c.5244_5245del (p.Cys1748fs) rs1555396636
NM_000138.5(FBN1):c.5250T>G (p.Ser1750Arg) rs1131692052
NM_000138.5(FBN1):c.5284G>A (p.Gly1762Ser) rs387906623
NM_000138.5(FBN1):c.5314del (p.Glu1772fs)
NM_000138.5(FBN1):c.5345G>A (p.Cys1782Tyr) rs1555396429
NM_000138.5(FBN1):c.5368C>T (p.Arg1790Ter) rs113249837
NM_000138.5(FBN1):c.5369G>A (p.Arg1790Gln) rs1555396428
NM_000138.5(FBN1):c.5371T>C (p.Cys1791Arg) rs1555396427
NM_000138.5(FBN1):c.5377T>C (p.Cys1793Arg) rs1555396424
NM_000138.5(FBN1):c.5387G>T (p.Gly1796Val) rs2043240309
NM_000138.5(FBN1):c.539-1G>A rs794728161
NM_000138.5(FBN1):c.539-1G>T rs794728161
NM_000138.5(FBN1):c.5422+1G>A rs1064793116
NM_000138.5(FBN1):c.5423-2A>G rs1566900540
NM_000138.5(FBN1):c.5504G>A (p.Cys1835Tyr) rs111929350
NM_000138.5(FBN1):c.5513G>A (p.Gly1838Asp) rs78970689
NM_000138.5(FBN1):c.5557T>C (p.Cys1853Arg) rs1555395990
NM_000138.5(FBN1):c.5595C>A (p.Cys1865Ter) rs1057520601
NM_000138.5(FBN1):c.5626T>C (p.Cys1876Arg) rs1555395980
NM_000138.5(FBN1):c.5628C>A (p.Cys1876Ter)
NM_000138.5(FBN1):c.5666G>A (p.Cys1889Tyr) rs1566899500
NM_000138.5(FBN1):c.5672-1G>C rs1555395849
NM_000138.5(FBN1):c.5686del (p.Glu1896fs) rs1064793374
NM_000138.5(FBN1):c.5699G>A (p.Cys1900Tyr) rs794728237
NM_000138.5(FBN1):c.5700T>A (p.Cys1900Ter) rs794728236
NM_000138.5(FBN1):c.5735del (p.Phe1912fs) rs1064793633
NM_000138.5(FBN1):c.5746T>C (p.Cys1916Arg) rs794728238
NM_000138.5(FBN1):c.5783G>A (p.Cys1928Tyr) rs587782947
NM_000138.5(FBN1):c.5788+1G>T rs1555395819
NM_000138.5(FBN1):c.5789-8_5793del rs1064793643
NM_000138.5(FBN1):c.5801G>A (p.Cys1934Tyr) rs794728240
NM_000138.5(FBN1):c.5817del (p.Asn1940fs) rs794728311
NM_000138.5(FBN1):c.5830_5831dup (p.Asn1944fs) rs2043151619
NM_000138.5(FBN1):c.5863C>T (p.Gln1955Ter) rs363807
NM_000138.5(FBN1):c.5873G>A (p.Cys1958Tyr) rs2141249167
NM_000138.5(FBN1):c.5893del (p.Ala1965fs) rs794728312
NM_000138.5(FBN1):c.5905del (p.Arg1969fs) rs1566898399
NM_000138.5(FBN1):c.5957dup (p.Gly1987fs) rs794728313
NM_000138.5(FBN1):c.5959G>C (p.Gly1987Arg) rs727504642
NM_000138.5(FBN1):c.6005del (p.Pro2002fs) rs1064793989
NM_000138.5(FBN1):c.6119_6120del (p.Cys2040fs) rs1057517851
NM_000138.5(FBN1):c.6129del (p.Ser2045fs) rs794728314
NM_000138.5(FBN1):c.6163+3_6163+8del
NM_000138.5(FBN1):c.6164-2A>G rs794728244
NM_000138.5(FBN1):c.6164-2A>T rs794728244
NM_000138.5(FBN1):c.6169C>T (p.Arg2057Ter) rs763091520
NM_000138.5(FBN1):c.6186T>G (p.Tyr2062Ter) rs764144407
NM_000138.5(FBN1):c.6241C>T (p.Gln2081Ter)
NM_000138.5(FBN1):c.6244G>T (p.Glu2082Ter) rs1052480459
NM_000138.5(FBN1):c.6274T>C (p.Trp2092Arg) rs794728246
NM_000138.5(FBN1):c.6296G>T (p.Cys2099Phe) rs1131691803
NM_000138.5(FBN1):c.6297C>G (p.Cys2099Trp)
NM_000138.5(FBN1):c.6313+2T>C rs1555395257
NM_000138.5(FBN1):c.6314-2A>G
NM_000138.5(FBN1):c.6325C>T (p.Gln2109Ter) rs1555395229
NM_000138.5(FBN1):c.635_636del (p.Thr212fs) rs1566922422
NM_000138.5(FBN1):c.6379+2T>C rs113453570
NM_000138.5(FBN1):c.6380-2A>C rs886041482
NM_000138.5(FBN1):c.6388G>A (p.Glu2130Lys) rs794728334
NM_000138.5(FBN1):c.6406_6407dup (p.Cys2137fs) rs794728317
NM_000138.5(FBN1):c.640G>A (p.Gly214Ser) rs794728162
NM_000138.5(FBN1):c.6425G>A (p.Cys2142Tyr) rs794728335
NM_000138.5(FBN1):c.6431A>G (p.Asn2144Ser) rs137854461
NM_000138.5(FBN1):c.643C>T (p.Arg215Ter) rs111687884
NM_000138.5(FBN1):c.6450_6454del (p.Cys2151fs) rs1555395193
NM_000138.5(FBN1):c.6453C>G (p.Cys2151Trp) rs794728251
NM_000138.5(FBN1):c.6453C>T (p.Cys2151=) rs794728251
NM_000138.5(FBN1):c.6487G>T (p.Glu2163Ter) rs1555395191
NM_000138.5(FBN1):c.651G>A (p.Trp217Ter)
NM_000138.5(FBN1):c.6551_6552dup (p.Ile2185Ter) rs1555395009
NM_000138.5(FBN1):c.6616+1G>A rs1064793980
NM_000138.5(FBN1):c.6625G>T (p.Glu2209Ter) rs886041859
NM_000138.5(FBN1):c.6628T>C (p.Cys2210Arg) rs794728253
NM_000138.5(FBN1):c.6630T>A (p.Cys2210Ter) rs397515836
NM_000138.5(FBN1):c.6649T>G (p.Cys2217Gly)
NM_000138.5(FBN1):c.6658C>T (p.Arg2220Ter) rs113001196
NM_000138.5(FBN1):c.6661T>C (p.Cys2221Arg) rs113543334
NM_000138.5(FBN1):c.6682dup (p.Tyr2228fs) rs886044547
NM_000138.5(FBN1):c.6722_6725dup (p.Arg2243fs) rs794728318
NM_000138.5(FBN1):c.6740-1G>A rs1555394781
NM_000138.5(FBN1):c.6740A>G (p.Asp2247Gly) rs1060501032
NM_000138.5(FBN1):c.6752G>A (p.Cys2251Tyr) rs794728256
NM_000138.5(FBN1):c.6772T>C (p.Cys2258Arg) rs1057520617
NM_000138.5(FBN1):c.6784C>T (p.Gln2262Ter) rs1060501023
NM_000138.5(FBN1):c.6793T>C (p.Cys2265Arg)
NM_000138.5(FBN1):c.6794G>A (p.Cys2265Tyr) rs1057520679
NM_000138.5(FBN1):c.6806T>A (p.Ile2269Asn) rs193922228
NM_000138.5(FBN1):c.6816T>G (p.Tyr2272Ter) rs2043017379
NM_000138.5(FBN1):c.6866G>A (p.Cys2289Tyr) rs1566894230
NM_000138.5(FBN1):c.6871G>A (p.Asp2291Asn) rs794728257
NM_000138.5(FBN1):c.6872-2A>G rs1064794139
NM_000138.5(FBN1):c.6904T>A (p.Cys2302Ser) rs886039092
NM_000138.5(FBN1):c.6953G>A (p.Cys2318Tyr) rs1555394626
NM_000138.5(FBN1):c.6953G>C (p.Cys2318Ser) rs1555394626
NM_000138.5(FBN1):c.6982C>T (p.Gln2328Ter) rs371097218
NM_000138.5(FBN1):c.6992G>A (p.Cys2331Tyr) rs397515842
NM_000138.5(FBN1):c.6997+2T>C rs1131691730
NM_000138.5(FBN1):c.7016_7031dup (p.Gln2345fs) rs1597518081
NM_000138.5(FBN1):c.7037dup (p.Asn2346fs) rs1131691656
NM_000138.5(FBN1):c.7039_7040del (p.Met2347fs) rs794728319
NM_000138.5(FBN1):c.708_726dup (p.Ala243fs) rs2141357984
NM_000138.5(FBN1):c.7125T>A (p.Cys2375Ter) rs794728265
NM_000138.5(FBN1):c.7167_7168del (p.Cys2390fs) rs397515846
NM_000138.5(FBN1):c.7180C>T (p.Arg2394Ter) rs397515848
NM_000138.5(FBN1):c.718C>T (p.Arg240Cys) rs137854480
NM_000138.5(FBN1):c.7205-1G>A rs794728266
NM_000138.5(FBN1):c.7249G>T (p.Glu2417Ter) rs2042974889
NM_000138.5(FBN1):c.7267G>T (p.Gly2423Ter) rs794728271
NM_000138.5(FBN1):c.7330+3_7330+6del rs1597516325
NM_000138.5(FBN1):c.7453+1G>A rs397515851
NM_000138.5(FBN1):c.7454-1G>T rs2141222615
NM_000138.5(FBN1):c.7465T>C (p.Cys2489Arg) rs1057520728
NM_000138.5(FBN1):c.7507del (p.Thr2503fs) rs1555394242
NM_000138.5(FBN1):c.7527C>A (p.Cys2509Ter) rs2141222456
NM_000138.5(FBN1):c.7531T>C (p.Cys2511Arg) rs794728272
NM_000138.5(FBN1):c.7532G>A (p.Cys2511Tyr) rs1555394238
NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg) rs363811
NM_000138.5(FBN1):c.7599del (p.Leu2534fs) rs794728320
NM_000138.5(FBN1):c.7605C>A (p.Cys2535Ter) rs113544411
NM_000138.5(FBN1):c.7605C>G (p.Cys2535Trp) rs113544411
NM_000138.5(FBN1):c.7606G>A (p.Gly2536Arg) rs397515854
NM_000138.5(FBN1):c.762del (p.Leu256fs) rs1064793559
NM_000138.5(FBN1):c.7656C>A (p.Cys2552Ter) rs1555394195
NM_000138.5(FBN1):c.768_769del (p.Cys257fs) rs2043995619
NM_000138.5(FBN1):c.7708G>A (p.Glu2570Lys) rs886038786
NM_000138.5(FBN1):c.7726C>T (p.Arg2576Cys) rs147195031
NM_000138.5(FBN1):c.7775G>A (p.Cys2592Tyr) rs112118237
NM_000138.5(FBN1):c.7800C>G (p.Tyr2600Ter) rs1404133653
NM_000138.5(FBN1):c.7806G>A (p.Trp2602Ter) rs193922236
NM_000138.5(FBN1):c.7815T>A (p.Cys2605Ter)
NM_000138.5(FBN1):c.7819+1G>A rs112907302
NM_000138.5(FBN1):c.7828G>A (p.Glu2610Lys) rs111984349
NM_000138.5(FBN1):c.7832G>A (p.Cys2611Tyr) rs794728337
NM_000138.5(FBN1):c.7864T>C (p.Cys2622Arg) rs1555393882
NM_000138.5(FBN1):c.7C>T (p.Arg3Ter) rs886038797
NM_000138.5(FBN1):c.8010C>G (p.Tyr2670Ter) rs794728282
NM_000138.5(FBN1):c.8020T>C (p.Cys2674Arg) rs1060501014
NM_000138.5(FBN1):c.8038C>T (p.Arg2680Cys) rs794728283
NM_000138.5(FBN1):c.8047C>T (p.Gln2683Ter) rs2141214520
NM_000138.5(FBN1):c.8047_8051+1del
NM_000138.5(FBN1):c.8064del (p.Gly2689fs) rs794728344
NM_000138.5(FBN1):c.8080C>T (p.Arg2694Ter) rs200309328
NM_000138.5(FBN1):c.8148C>G (p.Tyr2716Ter) rs112642323
NM_000138.5(FBN1):c.8154dup (p.Lys2719Ter) rs794728321
NM_000138.5(FBN1):c.8226+1G>A rs398122833
NM_000138.5(FBN1):c.8256del (p.Ala2754fs) rs1064793503
NM_000138.5(FBN1):c.8520_8523del (p.Lys2840fs) rs1555393513
NM_000138.5(FBN1):c.8521G>T (p.Glu2841Ter) rs587782948
NM_000138.5(FBN1):c.8525_8529del (p.Leu2842fs) rs1064794130
NM_000138.5(FBN1):c.8543_8544del (p.Lys2848fs) rs794728323
NM_000138.5(FBN1):c.8544del (p.Lys2848fs) rs794728323
NM_000138.5(FBN1):c.897_898del (p.Cys299_Glu300delinsTer) rs2141343447
NM_000138.5(FBN1):c.917del (p.Asn306fs) rs1064793637
NM_000138.5(FBN1):c.978del (p.Arg327fs) rs1060501094
NM_000138.5:c.164+10444_347-5190del

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