ClinVar Miner

List of variants reported as likely pathogenic for Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection

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ClinVar version:
Total variants: 377
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HGVS dbSNP gnomAD frequency
NM_000138.5(FBN1):c.7660C>T (p.Arg2554Trp) rs369294972 0.00009
NM_000138.5(FBN1):c.7999G>A (p.Glu2667Lys) rs149062442 0.00006
NM_000138.5(FBN1):c.3145G>A (p.Gly1049Ser) rs778181932 0.00004
NM_000138.5(FBN1):c.442+1G>A rs868403743 0.00003
NM_000138.5(FBN1):c.6623A>G (p.Asn2208Ser) rs146063839 0.00003
NM_000138.5(FBN1):c.6890C>T (p.Thr2297Met) rs773785908 0.00003
NM_000138.5(FBN1):c.467A>G (p.Asn156Ser) rs779490973 0.00002
NM_000138.5(FBN1):c.5518C>T (p.Arg1840Cys) rs765387131 0.00002
NM_000138.5(FBN1):c.287G>C (p.Arg96Thr) rs794728291 0.00001
NM_000138.5(FBN1):c.2977T>C (p.Cys993Arg) rs1206813753 0.00001
NM_000138.5(FBN1):c.3409C>T (p.Arg1137Cys) rs1439487763 0.00001
NM_000138.5(FBN1):c.3931T>A (p.Tyr1311Asn) rs1406315227 0.00001
NM_000138.5(FBN1):c.494G>A (p.Arg165Gln) rs1060501079 0.00001
NM_000138.5(FBN1):c.5086T>C (p.Tyr1696His) rs373320952 0.00001
NM_000138.5(FBN1):c.5304T>A (p.Asp1768Glu) rs867058901 0.00001
NM_000138.5(FBN1):c.610T>C (p.Cys204Arg) rs2044026132 0.00001
NM_000138.5(FBN1):c.643C>G (p.Arg215Gly) rs111687884 0.00001
NM_000138.5(FBN1):c.6461C>G (p.Pro2154Arg) rs756219617 0.00001
NM_000138.5(FBN1):c.6917G>A (p.Arg2306His) rs770443276 0.00001
NM_000138.5(FBN1):c.7906G>A (p.Gly2636Ser) rs112566465 0.00001
NM_000138.5(FBN1):c.8039G>A (p.Arg2680His) rs748934203 0.00001
NC_000015.10:g.(?_48410980)_(48411389_?)del
NC_000015.10:g.(?_48444521)_(48445524_?)del
NC_000015.10:g.(?_48596273)_(48613102_?)dup
NC_000015.10:g.48437317C>T rs1085307875
NC_000015.9:g.(?_48704746)_(48713023_?)dup
NC_000015.9:g.(?_48762825)_(48762959_?)del
NC_000015.9:g.(?_48812836)_(48905309_?)dup
NC_000015.9:g.(?_48888460)_(48905309_?)dup
NM_000138.5(FBN1):c.1006T>G (p.Cys336Gly) rs1555400612
NM_000138.5(FBN1):c.1007G>A (p.Cys336Tyr) rs2141336245
NM_000138.5(FBN1):c.1072T>A (p.Cys358Ser)
NM_000138.5(FBN1):c.1079G>A (p.Cys360Tyr) rs1555400601
NM_000138.5(FBN1):c.1097G>C (p.Trp366Ser)
NM_000138.5(FBN1):c.1098G>C (p.Trp366Cys) rs1555400595
NM_000138.5(FBN1):c.1129T>C (p.Cys377Arg) rs886039066
NM_000138.5(FBN1):c.1129T>G (p.Cys377Gly)
NM_000138.5(FBN1):c.1130G>A (p.Cys377Tyr) rs1597583989
NM_000138.5(FBN1):c.1147+2T>A rs2141335915
NM_000138.5(FBN1):c.1420T>G (p.Cys474Gly) rs1555400380
NM_000138.5(FBN1):c.1426T>C (p.Cys476Arg) rs794728326
NM_000138.5(FBN1):c.1481G>C (p.Cys494Ser) rs1057518881
NM_000138.5(FBN1):c.1525G>T (p.Gly509Cys) rs1060501073
NM_000138.5(FBN1):c.1538G>C (p.Cys513Ser) rs1060501036
NM_000138.5(FBN1):c.1588+1G>A rs2141327634
NM_000138.5(FBN1):c.1637G>A (p.Cys546Tyr)
NM_000138.5(FBN1):c.164G>A (p.Gly55Glu) rs2140787387
NM_000138.5(FBN1):c.1665C>G (p.Cys555Trp) rs531101773
NM_000138.5(FBN1):c.1671T>G (p.Cys557Trp) rs2141323336
NM_000138.5(FBN1):c.1678G>T (p.Gly560Cys) rs1064794283
NM_000138.5(FBN1):c.1714+2T>C rs2141323212
NM_000138.5(FBN1):c.1745G>A (p.Cys582Tyr) rs2141321627
NM_000138.5(FBN1):c.1753G>A (p.Gly585Arg) rs1085307528
NM_000138.5(FBN1):c.1836_1837+2delinsGGG rs2043731288
NM_000138.5(FBN1):c.1846G>C (p.Glu616Gln)
NM_000138.5(FBN1):c.1849_1851del (p.Cys617del) rs2141317465
NM_000138.5(FBN1):c.1900T>C (p.Ser634Pro) rs1566914005
NM_000138.5(FBN1):c.1916G>A (p.Cys639Tyr) rs878853676
NM_000138.5(FBN1):c.1916_1917delinsTG (p.Cys639Leu) rs2043696899
NM_000138.5(FBN1):c.1960G>A (p.Asp654Asn)
NM_000138.5(FBN1):c.1961-1G>A rs2043686634
NM_000138.5(FBN1):c.2086T>G (p.Cys696Gly) rs2141315718
NM_000138.5(FBN1):c.2087G>T (p.Cys696Phe) rs1566913685
NM_000138.5(FBN1):c.2096G>C (p.Cys699Ser) rs2043684108
NM_000138.5(FBN1):c.211T>G (p.Trp71Gly) rs1555405658
NM_000138.5(FBN1):c.2147G>A (p.Gly716Glu) rs794728185
NM_000138.5(FBN1):c.2201G>A (p.Cys734Tyr) rs794728187
NM_000138.5(FBN1):c.2222A>G (p.Asn741Ser)
NM_000138.5(FBN1):c.2223C>A (p.Asn741Lys)
NM_000138.5(FBN1):c.2258G>A (p.Gly753Glu) rs1555399365
NM_000138.5(FBN1):c.2287T>C (p.Cys763Arg) rs1555399361
NM_000138.5(FBN1):c.2289C>G (p.Cys763Trp) rs181311020
NM_000138.5(FBN1):c.229G>A (p.Gly77Arg) rs794728290
NM_000138.5(FBN1):c.2306G>T (p.Cys769Phe) rs794728190
NM_000138.5(FBN1):c.2341T>G (p.Cys781Gly)
NM_000138.5(FBN1):c.2420-2A>G rs1060501052
NM_000138.5(FBN1):c.247+3A>C rs201854371
NM_000138.5(FBN1):c.2560T>C (p.Trp854Arg) rs2043596204
NM_000138.5(FBN1):c.2561G>C (p.Trp854Ser) rs1597568968
NM_000138.5(FBN1):c.2562G>T (p.Trp854Cys) rs1555399164
NM_000138.5(FBN1):c.2624G>A (p.Cys875Tyr) rs886039038
NM_000138.5(FBN1):c.2639G>C (p.Gly880Ala)
NM_000138.5(FBN1):c.2639G>T (p.Gly880Val) rs886038953
NM_000138.5(FBN1):c.2673A>G (p.Gln891=) rs1555399143
NM_000138.5(FBN1):c.2677+1G>A
NM_000138.5(FBN1):c.2687G>C (p.Cys896Ser)
NM_000138.5(FBN1):c.2723G>C (p.Cys908Ser) rs1057523406
NM_000138.5(FBN1):c.2728+1G>C rs794728322
NM_000138.5(FBN1):c.2728_2728+1delinsAA rs1566911331
NM_000138.5(FBN1):c.2737G>A (p.Glu913Lys) rs1555398996
NM_000138.5(FBN1):c.2738A>C (p.Glu913Ala) rs1555398995
NM_000138.5(FBN1):c.274G>A (p.Gly92Arg) rs2140734026
NM_000138.5(FBN1):c.2803T>G (p.Cys935Gly)
NM_000138.5(FBN1):c.2855-2A>G rs2141297577
NM_000138.5(FBN1):c.2861G>T (p.Arg954Leu) rs112911555
NM_000138.5(FBN1):c.2873G>C (p.Cys958Ser) rs1555398834
NM_000138.5(FBN1):c.2943C>G (p.Cys981Trp)
NM_000138.5(FBN1):c.2953G>T (p.Gly985Trp) rs794728199
NM_000138.5(FBN1):c.3083A>G (p.Asp1028Gly) rs1131691317
NM_000138.5(FBN1):c.3137A>G (p.Asn1046Ser) rs2141295239
NM_000138.5(FBN1):c.3172G>A (p.Gly1058Ser) rs886039208
NM_000138.5(FBN1):c.3203G>A (p.Cys1068Tyr) rs1555398659
NM_000138.5(FBN1):c.3203G>C (p.Cys1068Ser) rs1555398659
NM_000138.5(FBN1):c.3209-1G>C rs886038956
NM_000138.5(FBN1):c.3209-2A>C rs2043526284
NM_000138.5(FBN1):c.3250G>C (p.Gly1084Arg) rs112553035
NM_000138.5(FBN1):c.3271G>T (p.Gly1091Trp) rs2141294717
NM_000138.5(FBN1):c.3272G>A (p.Gly1091Glu) rs1566909798
NM_000138.5(FBN1):c.3284G>A (p.Cys1095Tyr) rs1597563934
NM_000138.5(FBN1):c.32T>G (p.Leu11Arg) rs1555407429
NM_000138.5(FBN1):c.3331T>G (p.Cys1111Gly) rs2141294587
NM_000138.5(FBN1):c.3332G>C (p.Cys1111Ser)
NM_000138.5(FBN1):c.3343G>T (p.Asp1115Tyr)
NM_000138.5(FBN1):c.3347A>G (p.Glu1116Gly) rs1566909547
NM_000138.5(FBN1):c.3371G>C (p.Cys1124Ser) rs2141293726
NM_000138.5(FBN1):c.3379G>A (p.Gly1127Ser) rs137854468
NM_000138.5(FBN1):c.3380G>A (p.Gly1127Asp) rs1064794882
NM_000138.5(FBN1):c.3393C>A (p.Asn1131Lys) rs775565475
NM_000138.5(FBN1):c.3419G>A (p.Cys1140Tyr) rs1060501075
NM_000138.5(FBN1):c.3464A>G (p.Asp1155Gly) rs2141293332
NM_000138.5(FBN1):c.3464A>T (p.Asp1155Val)
NM_000138.5(FBN1):c.3497G>A (p.Cys1166Tyr) rs2043515038
NM_000138.5(FBN1):c.3505G>C (p.Gly1169Arg)
NM_000138.5(FBN1):c.3518A>C (p.Asn1173Thr) rs1555398520
NM_000138.5(FBN1):c.3533A>G (p.Tyr1178Cys) rs1555398515
NM_000138.5(FBN1):c.355T>C (p.Cys119Arg) rs2044551443
NM_000138.5(FBN1):c.356G>A (p.Cys119Tyr)
NM_000138.5(FBN1):c.3583T>G (p.Cys1195Gly) rs2141293091
NM_000138.5(FBN1):c.3589+1del
NM_000138.5(FBN1):c.3590-2A>G rs2043498977
NM_000138.5(FBN1):c.3596A>G (p.Asp1199Gly) rs794728206
NM_000138.5(FBN1):c.3598G>A (p.Glu1200Lys)
NM_000138.5(FBN1):c.3616G>A (p.Gly1206Ser)
NM_000138.5(FBN1):c.3616G>C (p.Gly1206Arg) rs1555398411
NM_000138.5(FBN1):c.3617G>T (p.Gly1206Val)
NM_000138.5(FBN1):c.3623G>T (p.Cys1208Phe) rs1555398406
NM_000138.5(FBN1):c.3624T>G (p.Cys1208Trp)
NM_000138.5(FBN1):c.3634T>C (p.Cys1212Arg) rs2043497933
NM_000138.5(FBN1):c.3661T>A (p.Cys1221Ser) rs2141291310
NM_000138.5(FBN1):c.3677G>T (p.Gly1226Val) rs1555398387
NM_000138.5(FBN1):c.3706T>G (p.Cys1236Gly) rs1555398380
NM_000138.5(FBN1):c.3721G>A (p.Glu1241Lys)
NM_000138.5(FBN1):c.3722A>G (p.Glu1241Gly) rs2043485666
NM_000138.5(FBN1):c.3766A>G (p.Asn1256Asp) rs772890884
NM_000138.5(FBN1):c.3794G>C (p.Cys1265Ser) rs1555398279
NM_000138.5(FBN1):c.3838G>A (p.Asp1280Asn) rs794728210
NM_000138.5(FBN1):c.3886T>C (p.Cys1296Arg) rs397515797
NM_000138.5(FBN1):c.3893A>C (p.Asn1298Thr)
NM_000138.5(FBN1):c.3904_3915del (p.Ser1302_Cys1305del)
NM_000138.5(FBN1):c.3928G>C (p.Gly1310Arg)
NM_000138.5(FBN1):c.3928G>T (p.Gly1310Cys) rs2043466325
NM_000138.5(FBN1):c.3963A>G (p.Thr1321=) rs140648
NM_000138.5(FBN1):c.3975A>C (p.Glu1325Asp) rs1555397741
NM_000138.5(FBN1):c.4081T>C (p.Cys1361Arg) rs1566906506
NM_000138.5(FBN1):c.4087G>T (p.Asp1363Tyr)
NM_000138.5(FBN1):c.4088-2A>G
NM_000138.5(FBN1):c.4096G>C (p.Glu1366Gln) rs763449629
NM_000138.5(FBN1):c.4099T>A (p.Cys1367Ser) rs1555397670
NM_000138.5(FBN1):c.4139G>A (p.Cys1380Tyr)
NM_000138.5(FBN1):c.4210G>A (p.Asp1404Asn) rs794728220
NM_000138.5(FBN1):c.4211-2A>G
NM_000138.5(FBN1):c.4217A>G (p.Asp1406Gly) rs2043386794
NM_000138.5(FBN1):c.4244G>A (p.Cys1415Tyr) rs1555397556
NM_000138.5(FBN1):c.4280A>G (p.Tyr1427Cys) rs1555397548
NM_000138.5(FBN1):c.433T>C (p.Cys145Arg) rs1555405031
NM_000138.5(FBN1):c.4367G>T (p.Cys1456Phe) rs397515805
NM_000138.5(FBN1):c.4459+2T>G rs1555397393
NM_000138.5(FBN1):c.4459G>A (p.Asp1487Asn) rs113693945
NM_000138.5(FBN1):c.4460A>C (p.Asp1487Ala) rs1555397216
NM_000138.5(FBN1):c.449G>T (p.Cys150Phe)
NM_000138.5(FBN1):c.4510A>T (p.Asn1504Tyr) rs1555397211
NM_000138.5(FBN1):c.4511A>T (p.Asn1504Ile) rs1555397209
NM_000138.5(FBN1):c.4525T>G (p.Tyr1509Asp)
NM_000138.5(FBN1):c.4526A>G (p.Tyr1509Cys) rs730880102
NM_000138.5(FBN1):c.4538G>T (p.Cys1513Phe) rs1555397204
NM_000138.5(FBN1):c.4562C>T (p.Pro1521Leu) rs2141272892
NM_000138.5(FBN1):c.4583-5A>G rs778966916
NM_000138.5(FBN1):c.4589G>C (p.Arg1530Pro) rs778710767
NM_000138.5(FBN1):c.4589G>T (p.Arg1530Leu)
NM_000138.5(FBN1):c.461G>A (p.Cys154Tyr)
NM_000138.5(FBN1):c.461G>T (p.Cys154Phe)
NM_000138.5(FBN1):c.4685G>T (p.Cys1562Phe) rs2141272349
NM_000138.5(FBN1):c.4729T>C (p.Cys1577Arg)
NM_000138.5(FBN1):c.4741_4747+7del
NM_000138.5(FBN1):c.4747+1G>A rs2141272220
NM_000138.5(FBN1):c.4747+3A>T rs1555397145
NM_000138.5(FBN1):c.4747+5G>T rs193922209
NM_000138.5(FBN1):c.4748-1G>A rs2141270027
NM_000138.5(FBN1):c.4748-2A>G rs2141270032
NM_000138.5(FBN1):c.4817-2A>G rs1555397008
NM_000138.5(FBN1):c.4857_4865del (p.Gly1620_Cys1622del) rs2141269721
NM_000138.5(FBN1):c.4891T>A (p.Cys1631Ser) rs1555396998
NM_000138.5(FBN1):c.4897T>C (p.Cys1633Arg)
NM_000138.5(FBN1):c.4996_5007del (p.Thr1666_Asn1669del) rs2141267678
NM_000138.5(FBN1):c.5060G>A (p.Cys1687Tyr)
NM_000138.5(FBN1):c.5060G>T (p.Cys1687Phe)
NM_000138.5(FBN1):c.5066-9_5086dup rs1566903283
NM_000138.5(FBN1):c.5099A>G (p.Tyr1700Cys) rs387906626
NM_000138.5(FBN1):c.5158T>C (p.Cys1720Arg) rs1597545230
NM_000138.5(FBN1):c.5207G>A (p.Cys1736Tyr) rs1060501070
NM_000138.5(FBN1):c.5225-2A>G
NM_000138.5(FBN1):c.5261G>A (p.Gly1754Asp)
NM_000138.5(FBN1):c.5261G>T (p.Gly1754Val)
NM_000138.5(FBN1):c.5309G>A (p.Cys1770Tyr) rs2043241537
NM_000138.5(FBN1):c.5330G>A (p.Cys1777Tyr) rs1060501069
NM_000138.5(FBN1):c.5422_5422+1delinsTT rs1566901570
NM_000138.5(FBN1):c.5432A>G (p.Glu1811Gly) rs2141256116
NM_000138.5(FBN1):c.5452T>G (p.Cys1818Gly)
NM_000138.5(FBN1):c.5485G>C (p.Gly1829Arg) rs1597537835
NM_000138.5(FBN1):c.5512G>C (p.Gly1838Arg) rs397515823
NM_000138.5(FBN1):c.5545+1G>A rs1260109901
NM_000138.5(FBN1):c.5545+1del rs1566900469
NM_000138.5(FBN1):c.5545+2T>C rs2043209059
NM_000138.5(FBN1):c.5546-1G>A rs1566899590
NM_000138.5(FBN1):c.5555A>C (p.Glu1852Ala)
NM_000138.5(FBN1):c.5558G>A (p.Cys1853Tyr) rs1555395989
NM_000138.5(FBN1):c.5628C>G (p.Cys1876Trp) rs2141252143
NM_000138.5(FBN1):c.5666G>A (p.Cys1889Tyr) rs1566899500
NM_000138.5(FBN1):c.5671G>C (p.Asp1891His) rs193922216
NM_000138.5(FBN1):c.5671G>T (p.Asp1891Tyr)
NM_000138.5(FBN1):c.5672-2A>T
NM_000138.5(FBN1):c.5672-87A>G rs1060501029
NM_000138.5(FBN1):c.5678A>G (p.Asn1893Ser) rs1597533707
NM_000138.5(FBN1):c.5679T>G (p.Asn1893Lys) rs1597533706
NM_000138.5(FBN1):c.5719A>G (p.Asn1907Asp) rs397515824
NM_000138.5(FBN1):c.5720A>G (p.Asn1907Ser) rs1060501087
NM_000138.5(FBN1):c.5728G>T (p.Gly1910Cys) rs1597533619
NM_000138.5(FBN1):c.5740T>G (p.Cys1914Gly) rs2141250333
NM_000138.5(FBN1):c.5788+2T>C rs1555395818
NM_000138.5(FBN1):c.5789-1G>A rs2043152080
NM_000138.5(FBN1):c.5824T>A (p.Cys1942Ser) rs1555395762
NM_000138.5(FBN1):c.5824T>G (p.Cys1942Gly) rs1555395762
NM_000138.5(FBN1):c.5825G>A (p.Cys1942Tyr) rs794728241
NM_000138.5(FBN1):c.5839T>C (p.Cys1947Arg) rs1131691938
NM_000138.5(FBN1):c.5861T>G (p.Phe1954Cys) rs730880104
NM_000138.5(FBN1):c.5862C>G (p.Phe1954Leu)
NM_000138.5(FBN1):c.5863CAGTGC[1] (p.1955QC[1])
NM_000138.5(FBN1):c.5917+1G>T rs363808
NM_000138.5(FBN1):c.5929T>A (p.Cys1977Ser) rs2141248174
NM_000138.5(FBN1):c.5952T>G (p.Cys1984Trp)
NM_000138.5(FBN1):c.5959G>T (p.Gly1987Cys)
NM_000138.5(FBN1):c.5965T>A (p.Cys1989Ser) rs2043139988
NM_000138.5(FBN1):c.5965T>G (p.Cys1989Gly) rs2043139988
NM_000138.5(FBN1):c.5999G>A (p.Cys2000Tyr) rs1555395645
NM_000138.5(FBN1):c.6086G>A (p.Cys2029Tyr) rs1057517855
NM_000138.5(FBN1):c.6163+1G>A rs1566897374
NM_000138.5(FBN1):c.6163+1_6163+2del
NM_000138.5(FBN1):c.6164-2A>G rs794728244
NM_000138.5(FBN1):c.6208T>C (p.Cys2070Arg)
NM_000138.5(FBN1):c.6209G>A (p.Cys2070Tyr) rs1060501044
NM_000138.5(FBN1):c.6209G>T (p.Cys2070Phe) rs1060501044
NM_000138.5(FBN1):c.6250T>A (p.Cys2084Ser) rs2141241499
NM_000138.5(FBN1):c.6272G>A (p.Gly2091Asp) rs878853687
NM_000138.5(FBN1):c.6313_6313+1delinsAC
NM_000138.5(FBN1):c.6314-7_6322del rs2141240946
NM_000138.5(FBN1):c.6322C>T (p.Arg2108Cys) rs1246984265
NM_000138.5(FBN1):c.6332G>A (p.Cys2111Tyr) rs1131691467
NM_000138.5(FBN1):c.6373_6379+1dup
NM_000138.5(FBN1):c.6379+1G>A rs397515833
NM_000138.5(FBN1):c.6379+2T>C rs113453570
NM_000138.5(FBN1):c.6379+2T>G rs113453570
NM_000138.5(FBN1):c.6380-2A>G rs886041482
NM_000138.5(FBN1):c.6386A>T (p.Asp2129Val) rs1566896114
NM_000138.5(FBN1):c.6430A>C (p.Asn2144His) rs886038943
NM_000138.5(FBN1):c.6440G>A (p.Gly2147Asp) rs1597525958
NM_000138.5(FBN1):c.6449G>A (p.Arg2150His)
NM_000138.5(FBN1):c.6490T>G (p.Cys2164Gly) rs2141240296
NM_000138.5(FBN1):c.6503A>G (p.Asp2168Gly) rs1555395015
NM_000138.5(FBN1):c.6505G>A (p.Glu2169Lys)
NM_000138.5(FBN1):c.6527G>A (p.Cys2176Tyr)
NM_000138.5(FBN1):c.6528T>G (p.Cys2176Trp) rs2141237128
NM_000138.5(FBN1):c.6568T>A (p.Cys2190Ser) rs1566895263
NM_000138.5(FBN1):c.6568T>C (p.Cys2190Arg)
NM_000138.5(FBN1):c.6568T>G (p.Cys2190Gly)
NM_000138.5(FBN1):c.6575G>A (p.Cys2192Tyr) rs2043050838
NM_000138.5(FBN1):c.6576C>G (p.Cys2192Trp) rs369058466
NM_000138.5(FBN1):c.6611G>C (p.Cys2204Ser)
NM_000138.5(FBN1):c.6615A>G (p.Glu2205=)
NM_000138.5(FBN1):c.6617-1G>C rs2141235271
NM_000138.5(FBN1):c.6617-2A>C rs1597522588
NM_000138.5(FBN1):c.6617-2A>G
NM_000138.5(FBN1):c.6689G>A (p.Cys2230Tyr) rs1555394904
NM_000138.5(FBN1):c.6694T>G (p.Cys2232Gly)
NM_000138.5(FBN1):c.6697C>T (p.Pro2233Ser) rs794728255
NM_000138.5(FBN1):c.6698C>A (p.Pro2233His) rs1566894783
NM_000138.5(FBN1):c.6698C>T (p.Pro2233Leu) rs1566894783
NM_000138.5(FBN1):c.6740-10T>G rs1456822662
NM_000138.5(FBN1):c.6740-3C>G rs1566894334
NM_000138.5(FBN1):c.6752G>A (p.Cys2251Tyr) rs794728256
NM_000138.5(FBN1):c.6806T>A (p.Ile2269Asn) rs193922228
NM_000138.5(FBN1):c.6815A>G (p.Tyr2272Cys) rs2141232534
NM_000138.5(FBN1):c.6820T>C (p.Cys2274Arg) rs869025412
NM_000138.5(FBN1):c.6826T>G (p.Cys2276Gly) rs2043017257
NM_000138.5(FBN1):c.6865T>A (p.Cys2289Ser)
NM_000138.5(FBN1):c.6872-961A>G rs1597519658
NM_000138.5(FBN1):c.6883T>G (p.Cys2295Gly) rs1555394644
NM_000138.5(FBN1):c.6906T>G (p.Cys2302Trp) rs1555394634
NM_000138.5(FBN1):c.6992G>T (p.Cys2331Phe) rs397515842
NM_000138.5(FBN1):c.6997+4A>G rs727503055
NM_000138.5(FBN1):c.7003C>G (p.Arg2335Gly) rs794728262
NM_000138.5(FBN1):c.700G>T (p.Gly234Cys)
NM_000138.5(FBN1):c.7088G>T (p.Cys2363Phe) rs2042988482
NM_000138.5(FBN1):c.7089CTG[1] (p.Cys2365del)
NM_000138.5(FBN1):c.7134C>G (p.Cys2378Trp) rs1555394562
NM_000138.5(FBN1):c.7168T>C (p.Cys2390Arg) rs397515847
NM_000138.5(FBN1):c.7184G>A (p.Gly2395Glu)
NM_000138.5(FBN1):c.7216T>C (p.Cys2406Arg) rs2042976167
NM_000138.5(FBN1):c.7238G>C (p.Cys2413Ser) rs1566892915
NM_000138.5(FBN1):c.7253G>A (p.Cys2418Tyr) rs794728270
NM_000138.5(FBN1):c.7279T>C (p.Cys2427Arg) rs1566892883
NM_000138.5(FBN1):c.7286G>A (p.Cys2429Tyr) rs2141226916
NM_000138.5(FBN1):c.7298A>G (p.Tyr2433Cys) rs1555394437
NM_000138.5(FBN1):c.7339G>C (p.Glu2447Gln)
NM_000138.5(FBN1):c.7365C>G (p.Cys2455Trp) rs1555394408
NM_000138.5(FBN1):c.737-17_740del rs1597591735
NM_000138.5(FBN1):c.7376G>A (p.Cys2459Tyr) rs1555394406
NM_000138.5(FBN1):c.7376G>T (p.Cys2459Phe) rs1555394406
NM_000138.5(FBN1):c.7382A>G (p.Asn2461Ser) rs1555394405
NM_000138.5(FBN1):c.7383C>G (p.Asn2461Lys) rs754047254
NM_000138.5(FBN1):c.7402T>C (p.Cys2468Arg) rs1085308004
NM_000138.5(FBN1):c.7412C>T (p.Pro2471Leu) rs193922233
NM_000138.5(FBN1):c.7418G>A (p.Gly2473Asp) rs2042971166
NM_000138.5(FBN1):c.7447T>C (p.Cys2483Arg) rs1555394391
NM_000138.5(FBN1):c.7453+2T>G
NM_000138.5(FBN1):c.7463A>G (p.Glu2488Gly)
NM_000138.5(FBN1):c.7465T>A (p.Cys2489Ser) rs1057520728
NM_000138.5(FBN1):c.7487G>T (p.Cys2496Phe) rs1555394245
NM_000138.5(FBN1):c.748T>C (p.Cys250Arg)
NM_000138.5(FBN1):c.7496T>C (p.Leu2499Pro)
NM_000138.5(FBN1):c.7525T>G (p.Cys2509Gly) rs1060501055
NM_000138.5(FBN1):c.7571-1G>A rs1566891706
NM_000138.5(FBN1):c.7577A>G (p.Asn2526Ser) rs794728336
NM_000138.5(FBN1):c.7603T>G (p.Cys2535Gly)
NM_000138.5(FBN1):c.7604_7605delinsTG (p.Cys2535Leu)
NM_000138.5(FBN1):c.7622G>A (p.Cys2541Tyr)
NM_000138.5(FBN1):c.7654T>C (p.Cys2552Arg) rs1566891668
NM_000138.5(FBN1):c.7655G>T (p.Cys2552Phe) rs113334360
NM_000138.5(FBN1):c.7710_7712del (p.Glu2570_Cys2571delinsAsp)
NM_000138.5(FBN1):c.7713_7730del (p.Glu2572_Cys2577del) rs2141220791
NM_000138.5(FBN1):c.7765A>G (p.Arg2589Gly) rs111413134
NM_000138.5(FBN1):c.7768T>G (p.Cys2590Gly)
NM_000138.5(FBN1):c.776G>T (p.Gly259Val) rs751169871
NM_000138.5(FBN1):c.7787A>G (p.Tyr2596Cys) rs1566891404
NM_000138.5(FBN1):c.7819+1G>T rs112907302
NM_000138.5(FBN1):c.7819+3A>C rs1555394135
NM_000138.5(FBN1):c.7877T>A (p.Leu2626Gln) rs794728338
NM_000138.5(FBN1):c.7879G>A (p.Gly2627Arg) rs193922239
NM_000138.5(FBN1):c.7879G>C (p.Gly2627Arg) rs193922239
NM_000138.5(FBN1):c.7880G>A (p.Gly2627Glu) rs1555393875
NM_000138.5(FBN1):c.7880G>C (p.Gly2627Ala) rs1555393875
NM_000138.5(FBN1):c.7892G>T (p.Cys2631Phe) rs111856492
NM_000138.5(FBN1):c.7976_7977delinsTT (p.Cys2659Phe)
NM_000138.5(FBN1):c.7987_8004del (p.Cys2663_Gly2668del) rs1597509607
NM_000138.5(FBN1):c.8009A>G (p.Tyr2670Cys) rs794728339
NM_000138.5(FBN1):c.8012T>C (p.Leu2671Pro) rs2141214610
NM_000138.5(FBN1):c.8014T>G (p.Cys2672Gly) rs1555393833
NM_000138.5(FBN1):c.8015G>A (p.Cys2672Tyr) rs1555393831
NM_000138.5(FBN1):c.8015G>T (p.Cys2672Phe) rs1555393831
NM_000138.5(FBN1):c.8020T>C (p.Cys2674Arg) rs1060501014
NM_000138.5(FBN1):c.8042T>G (p.Ile2681Arg) rs1555393825
NM_000138.5(FBN1):c.8051+1G>A rs2141214507
NM_000138.5(FBN1):c.8051+2T>A rs2141214505
NM_000138.5(FBN1):c.8052-2A>G
NM_000138.5(FBN1):c.8057G>A (p.Cys2686Tyr)
NM_000138.5(FBN1):c.8087del (p.Asn2696fs) rs1060501065
NM_000138.5(FBN1):c.811T>G (p.Cys271Gly) rs1060501019
NM_000138.5(FBN1):c.8329del (p.Ile2777fs) rs1566888689
NM_000138.5(FBN1):c.8333T>G (p.Leu2778Arg) rs1555393553
NM_000138.5(FBN1):c.8335G>T (p.Glu2779Ter) rs1555393551
NM_000138.5(FBN1):c.8444T>A (p.Leu2815His) rs113170280
NM_000138.5(FBN1):c.8447A>C (p.His2816Pro) rs1555393532
NM_000138.5(FBN1):c.8561del (p.Leu2854fs) rs1060501033
NM_000138.5(FBN1):c.8591T>C (p.Met2864Thr) rs1060501028
NM_000138.5(FBN1):c.863-2A>G
NM_000138.5(FBN1):c.938G>T (p.Cys313Phe) rs2141343367
NM_000138.5(FBN1):c.943T>C (p.Cys315Arg)
NM_000138.5(FBN1):c.997_1032del (p.Pro333_Arg344del) rs2043846857

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