ClinVar Miner

List of variants in gene FBN1 reported as pathogenic by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 234
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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.347-2A>G rs1555405056 0.00001
NM_000138.5(FBN1):c.5788+5G>A rs193922219 0.00001
NM_000138.5(FBN1):c.6354C>T (p.Ile2118=) rs112989722 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
NM_000138.4(FBN1):c.2127_2130delACTCins11 (p.?)
NM_000138.4(FBN1):c.5067_5073delTATGAGA rs886038823
NM_000138.5(FBN1):c.111del (p.Arg38fs) rs1555407416
NM_000138.5(FBN1):c.1191dup (p.Arg398fs) rs886038972
NM_000138.5(FBN1):c.1211dup (p.Pro405fs) rs112289537
NM_000138.5(FBN1):c.1216del (p.Gly407fs) rs2141331057
NM_000138.5(FBN1):c.1238_1239insAG (p.Pro414fs) rs2043800325
NM_000138.5(FBN1):c.1285C>T (p.Arg429Ter) rs112645512
NM_000138.5(FBN1):c.1328-1G>A
NM_000138.5(FBN1):c.1427dup (p.Cys476fs)
NM_000138.5(FBN1):c.1453C>T (p.Arg485Cys) rs137854485
NM_000138.5(FBN1):c.1463G>A (p.Cys488Tyr) rs1555400372
NM_000138.5(FBN1):c.1468+5G>A rs397515757
NM_000138.5(FBN1):c.1495del (p.Cys499fs)
NM_000138.5(FBN1):c.1511G>A (p.Cys504Tyr) rs1156747241
NM_000138.5(FBN1):c.1512T>A (p.Cys504Ter) rs1555400285
NM_000138.5(FBN1):c.1546C>T (p.Arg516Ter) rs113812345
NM_000138.5(FBN1):c.1571del (p.Thr524fs) rs886038817
NM_000138.5(FBN1):c.1585C>T (p.Arg529Ter) rs137854476
NM_000138.5(FBN1):c.1633C>T (p.Arg545Cys) rs730880099
NM_000138.5(FBN1):c.1665C>A (p.Cys555Ter) rs531101773
NM_000138.5(FBN1):c.1708T>C (p.Cys570Arg) rs113902534
NM_000138.5(FBN1):c.1710T>A (p.Cys570Ter) rs193922183
NM_000138.5(FBN1):c.1807C>T (p.Gln603Ter) rs886038963
NM_000138.5(FBN1):c.182C>G (p.Ser61Ter)
NM_000138.5(FBN1):c.1839_1840delinsGAAGGT (p.Asp613fs) rs1555399839
NM_000138.5(FBN1):c.1846G>T (p.Glu616Ter) rs397515764
NM_000138.5(FBN1):c.184C>T (p.Arg62Cys) rs25403
NM_000138.5(FBN1):c.1852dup (p.Glu618fs) rs1555399835
NM_000138.5(FBN1):c.1868G>T (p.Cys623Phe) rs1566914030
NM_000138.5(FBN1):c.1878del (p.Arg627fs)
NM_000138.5(FBN1):c.1891del (p.Thr631fs)
NM_000138.5(FBN1):c.1A>C (p.Met1Leu) rs730880097
NM_000138.5(FBN1):c.1A>G (p.Met1Val) rs730880097
NM_000138.5(FBN1):c.2113+1G>A rs1566913670
NM_000138.5(FBN1):c.2121T>A (p.Tyr707Ter)
NM_000138.5(FBN1):c.2131T>C (p.Cys711Arg) rs1555399481
NM_000138.5(FBN1):c.2150_2153delinsGTG (p.Met717fs)
NM_000138.5(FBN1):c.2168-2A>G rs1555399388
NM_000138.5(FBN1):c.2213dup (p.Cys739fs) rs1555399379
NM_000138.5(FBN1):c.2227del (p.Arg743fs) rs886038769
NM_000138.5(FBN1):c.2292del (p.Asp765fs) rs2141306307
NM_000138.5(FBN1):c.2293+1G>A rs1060501092
NM_000138.5(FBN1):c.2408_2412dup (p.Cys805fs)
NM_000138.5(FBN1):c.2428G>T (p.Glu810Ter)
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>T (p.Cys832Phe) rs397515775
NM_000138.5(FBN1):c.2524A>T (p.Lys842Ter) rs886038941
NM_000138.5(FBN1):c.2581C>T (p.Arg861Ter) rs140583
NM_000138.5(FBN1):c.2585G>A (p.Cys862Tyr) rs1555399162
NM_000138.5(FBN1):c.258_260delinsCT (p.His87fs) rs1555405534
NM_000138.5(FBN1):c.2645C>T (p.Ala882Val) rs794728195
NM_000138.5(FBN1):c.2665del (p.Leu889fs) rs1555399147
NM_000138.5(FBN1):c.266G>A (p.Cys89Tyr) rs112660651
NM_000138.5(FBN1):c.2673A>G (p.Gln891=) rs1555399143
NM_000138.5(FBN1):c.2722T>C (p.Cys908Arg) rs1060501021
NM_000138.5(FBN1):c.2723G>A (p.Cys908Tyr) rs1057523406
NM_000138.5(FBN1):c.2725del (p.Glu909fs) rs886038804
NM_000138.5(FBN1):c.2728+1G>C rs794728322
NM_000138.5(FBN1):c.2783del (p.Asn928fs)
NM_000138.5(FBN1):c.2814del (p.Ser939fs) rs1131691766
NM_000138.5(FBN1):c.2899_2900dup (p.Thr968fs) rs1555398828
NM_000138.5(FBN1):c.2906del (p.Leu969fs) rs886039154
NM_000138.5(FBN1):c.3037G>A (p.Gly1013Arg) rs140593
NM_000138.5(FBN1):c.3064G>T (p.Gly1022Ter)
NM_000138.5(FBN1):c.3082+1G>C rs886038996
NM_000138.5(FBN1):c.3159C>A (p.Cys1053Ter) rs886039054
NM_000138.5(FBN1):c.319del (p.Gln106_Ile107insTer)
NM_000138.5(FBN1):c.3209-1G>C rs886038956
NM_000138.5(FBN1):c.3217G>A (p.Glu1073Lys) rs137854478
NM_000138.5(FBN1):c.3269del (p.Pro1090fs) rs35656954
NM_000138.5(FBN1):c.3302A>G (p.Tyr1101Cys) rs1555398625
NM_000138.5(FBN1):c.3333C>A (p.Cys1111Ter)
NM_000138.5(FBN1):c.3356_3359del (p.Arg1119fs)
NM_000138.5(FBN1):c.3400G>T (p.Gly1134Ter) rs372404949
NM_000138.5(FBN1):c.3623G>T (p.Cys1208Phe) rs1555398406
NM_000138.5(FBN1):c.364C>T (p.Arg122Cys) rs137854467
NM_000138.5(FBN1):c.3668G>A (p.Cys1223Tyr) rs137854469
NM_000138.5(FBN1):c.3669T>A (p.Cys1223Ter) rs886039196
NM_000138.5(FBN1):c.3778G>T (p.Glu1260Ter) rs1555398283
NM_000138.5(FBN1):c.3815del (p.Ser1272fs) rs1555398272
NM_000138.5(FBN1):c.3821del (p.Asp1274fs)
NM_000138.5(FBN1):c.3838+2T>C
NM_000138.5(FBN1):c.3839_3846del (p.Asp1280fs) rs113603747
NM_000138.5(FBN1):c.3945dup (p.Gly1316fs) rs1555398144
NM_000138.5(FBN1):c.3947del (p.Gly1316fs) rs1555398143
NM_000138.5(FBN1):c.3975del (p.Glu1325fs)
NM_000138.5(FBN1):c.3G>T (p.Met1Ile) rs886039072
NM_000138.5(FBN1):c.4082G>A (p.Cys1361Tyr) rs1555397704
NM_000138.5(FBN1):c.4096G>A (p.Glu1366Lys) rs763449629
NM_000138.5(FBN1):c.4122C>A (p.Cys1374Ter)
NM_000138.5(FBN1):c.412A>T (p.Lys138Ter) rs886038937
NM_000138.5(FBN1):c.4135_4141del (p.Asp1379fs) rs886038970
NM_000138.5(FBN1):c.4188del (p.Gly1397fs) rs1555397652
NM_000138.5(FBN1):c.4205G>A (p.Cys1402Tyr) rs1555397646
NM_000138.5(FBN1):c.4337-2A>G rs794728216
NM_000138.5(FBN1):c.438dup (p.Gln147fs)
NM_000138.5(FBN1):c.439C>T (p.Gln147Ter) rs886039036
NM_000138.5(FBN1):c.4412_4415del (p.Glu1471fs) rs886038846
NM_000138.5(FBN1):c.4471T>A (p.Cys1491Ser)
NM_000138.5(FBN1):c.454del (p.Ser152fs)
NM_000138.5(FBN1):c.4562del (p.Pro1521fs) rs886039035
NM_000138.5(FBN1):c.4567C>T (p.Arg1523Ter) rs397515812
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.4704dup (p.Ala1569fs) rs1555397154
NM_000138.5(FBN1):c.4721del (p.Cys1574fs) rs1555397148
NM_000138.5(FBN1):c.4733del (p.Pro1578fs)
NM_000138.5(FBN1):c.4786C>T (p.Arg1596Ter) rs113871094
NM_000138.5(FBN1):c.4813del (p.Glu1605fs) rs1555397016
NM_000138.5(FBN1):c.4816+1G>T rs1555397014
NM_000138.5(FBN1):c.4817-1G>C
NM_000138.5(FBN1):c.4888del (p.Gln1630fs) rs1555397000
NM_000138.5(FBN1):c.4930C>T (p.Arg1644Ter) rs140630
NM_000138.5(FBN1):c.493C>T (p.Arg165Ter) rs113905529
NM_000138.5(FBN1):c.4942+2T>G
NM_000138.5(FBN1):c.4956del (p.Cys1652fs) rs886038979
NM_000138.5(FBN1):c.5014T>C (p.Cys1672Arg)
NM_000138.5(FBN1):c.5015G>A (p.Cys1672Tyr) rs140627
NM_000138.5(FBN1):c.5015G>C (p.Cys1672Ser) rs140627
NM_000138.5(FBN1):c.5065+2dup rs1555396835
NM_000138.5(FBN1):c.5203dup (p.Gln1735fs) rs1555396760
NM_000138.5(FBN1):c.526C>T (p.Gln176Ter) rs886038766
NM_000138.5(FBN1):c.5284G>A (p.Gly1762Ser) rs387906623
NM_000138.5(FBN1):c.5288T>A (p.Leu1763Ter)
NM_000138.5(FBN1):c.5368C>T (p.Arg1790Ter) rs113249837
NM_000138.5(FBN1):c.5437C>T (p.Gln1813Ter) rs397515821
NM_000138.5(FBN1):c.5536del (p.Gln1846fs) rs886039167
NM_000138.5(FBN1):c.558T>A (p.Cys186Ter) rs1555401699
NM_000138.5(FBN1):c.5657_5665delinsGC (p.Gln1886fs)
NM_000138.5(FBN1):c.5720del (p.Asn1907fs) rs886038959
NM_000138.5(FBN1):c.5789-2A>G rs886038790
NM_000138.5(FBN1):c.5825G>C (p.Cys1942Ser) rs794728241
NM_000138.5(FBN1):c.5826C>A (p.Cys1942Ter) rs363806
NM_000138.5(FBN1):c.595del (p.Leu199fs)
NM_000138.5(FBN1):c.5988C>A (p.Tyr1996Ter)
NM_000138.5(FBN1):c.6053del (p.Val2018fs)
NM_000138.5(FBN1):c.6113G>T (p.Cys2038Phe)
NM_000138.5(FBN1):c.6120T>G (p.Cys2040Trp)
NM_000138.5(FBN1):c.6146_6150del (p.Ser2049fs) rs1555395461
NM_000138.5(FBN1):c.6169C>T (p.Arg2057Ter) rs763091520
NM_000138.5(FBN1):c.6268G>T (p.Glu2090Ter) rs1304643689
NM_000138.5(FBN1):c.6313G>T (p.Glu2105Ter) rs794728247
NM_000138.5(FBN1):c.6331del (p.Cys2111fs)
NM_000138.5(FBN1):c.640G>A (p.Gly214Ser) rs794728162
NM_000138.5(FBN1):c.6410G>C (p.Cys2137Ser) rs1555395206
NM_000138.5(FBN1):c.643C>T (p.Arg215Ter) rs111687884
NM_000138.5(FBN1):c.6454G>T (p.Glu2152Ter)
NM_000138.5(FBN1):c.6492T>A (p.Cys2164Ter) rs886038957
NM_000138.5(FBN1):c.6497-2A>G
NM_000138.5(FBN1):c.650G>A (p.Trp217Ter) rs1555401686
NM_000138.5(FBN1):c.6590del (p.Glu2197fs)
NM_000138.5(FBN1):c.6609_6610del (p.Thr2203_Cys2204insTer) rs1555395002
NM_000138.5(FBN1):c.6611G>A (p.Cys2204Tyr) rs886039158
NM_000138.5(FBN1):c.6646_6650del (p.Leu2216fs) rs1555394927
NM_000138.5(FBN1):c.6658C>T (p.Arg2220Ter) rs113001196
NM_000138.5(FBN1):c.6675del (p.Thr2224_Tyr2225insTer)
NM_000138.5(FBN1):c.6682dup (p.Tyr2228fs) rs886044547
NM_000138.5(FBN1):c.6694T>C (p.Cys2232Arg) rs869025411
NM_000138.5(FBN1):c.6733T>C (p.Cys2245Arg)
NM_000138.5(FBN1):c.6740-1G>A rs1555394781
NM_000138.5(FBN1):c.6872-14A>G rs1064793119
NM_000138.5(FBN1):c.6884G>A (p.Cys2295Tyr) rs886038949
NM_000138.5(FBN1):c.6963del (p.Phe2322fs) rs1060501051
NM_000138.5(FBN1):c.7006G>T (p.Glu2336Ter) rs1199524458
NM_000138.5(FBN1):c.7039_7040del (p.Met2347fs) rs794728319
NM_000138.5(FBN1):c.7092_7093del (p.Cys2364fs) rs886038955
NM_000138.5(FBN1):c.7104_7105delinsTT (p.Arg2369Ter)
NM_000138.5(FBN1):c.7120del (p.His2374fs) rs1555394566
NM_000138.5(FBN1):c.7141C>T (p.Gln2381Ter) rs869025414
NM_000138.5(FBN1):c.7161del (p.Lys2388fs)
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.7240C>T (p.Arg2414Ter) rs112550005
NM_000138.5(FBN1):c.732T>A (p.Cys244Ter) rs878853689
NM_000138.5(FBN1):c.7330+1G>A rs1555394433
NM_000138.5(FBN1):c.7387G>T (p.Glu2463Ter) rs1566892735
NM_000138.5(FBN1):c.7406C>A (p.Ser2469Ter)
NM_000138.5(FBN1):c.7412del (p.Pro2471fs) rs1555394396
NM_000138.5(FBN1):c.7472_7475del (p.Thr2491fs)
NM_000138.5(FBN1):c.7498T>C (p.Cys2500Arg) rs363810
NM_000138.5(FBN1):c.7545dup (p.Thr2516fs)
NM_000138.5(FBN1):c.7549C>T (p.Gln2517Ter) rs1566891808
NM_000138.5(FBN1):c.7606G>A (p.Gly2536Arg) rs397515854
NM_000138.5(FBN1):c.7656C>A (p.Cys2552Ter) rs1555394195
NM_000138.5(FBN1):c.7663G>A (p.Gly2555Arg) rs1566891655
NM_000138.5(FBN1):c.7664G>T (p.Gly2555Val) rs1566891654
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.7729dup (p.Cys2577fs) rs1555394151
NM_000138.5(FBN1):c.7741T>A (p.Cys2581Ser)
NM_000138.5(FBN1):c.7775G>A (p.Cys2592Tyr) rs112118237
NM_000138.5(FBN1):c.7780dup (p.Gln2594fs) rs1555394146
NM_000138.5(FBN1):c.7788C>A (p.Tyr2596Ter) rs1555394142
NM_000138.5(FBN1):c.7792C>T (p.Gln2598Ter) rs886038975
NM_000138.5(FBN1):c.7806G>A (p.Trp2602Ter) rs193922236
NM_000138.5(FBN1):c.7822G>T (p.Glu2608Ter) rs1566890005
NM_000138.5(FBN1):c.7828G>A (p.Glu2610Lys) rs111984349
NM_000138.5(FBN1):c.7864T>G (p.Cys2622Gly)
NM_000138.5(FBN1):c.7912C>T (p.Gln2638Ter) rs2141214889
NM_000138.5(FBN1):c.7939C>T (p.Gln2647Ter) rs886038870
NM_000138.5(FBN1):c.7977C>A (p.Cys2659Ter) rs1555393844
NM_000138.5(FBN1):c.7C>T (p.Arg3Ter) rs886038797
NM_000138.5(FBN1):c.8051_8051+1delinsT rs1555393823
NM_000138.5(FBN1):c.8059_8060del (p.Val2687fs) rs2042873946
NM_000138.5(FBN1):c.8080C>T (p.Arg2694Ter) rs200309328
NM_000138.5(FBN1):c.8104_8105del (p.Ser2702fs)
NM_000138.5(FBN1):c.8148C>A (p.Tyr2716Ter)
NM_000138.5(FBN1):c.8148C>G (p.Tyr2716Ter) rs112642323
NM_000138.5(FBN1):c.8149G>T (p.Glu2717Ter) rs187553035
NM_000138.5(FBN1):c.8206dup (p.Thr2736fs) rs1555393647
NM_000138.5(FBN1):c.8405dup (p.Phe2803fs) rs1555393539
NM_000138.5(FBN1):c.841_842insT (p.Glu281fs) rs886039034
NM_000138.5(FBN1):c.8488C>T (p.Gln2830Ter) rs886038795
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.8547T>A (p.Tyr2849Ter)
NM_000138.5(FBN1):c.88G>T (p.Glu30Ter)
NM_000138.5(FBN1):c.923_926del (p.Val308fs)
NM_000138.5(FBN1):c.963del (p.Ser322fs)
NM_000138.5(FBN1):c.969delinsCC (p.Asp324fs)

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