ClinVar Miner

List of variants in gene FBN1 reported as uncertain significance by Center for Medical Genetics Ghent, University of Ghent

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Gene type:
ClinVar version:
Total variants: 168
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HGVS dbSNP gnomAD frequency
NM_000138.5(FBN1):c.3082+8del rs193922196 0.00359
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr) rs112287730 0.00107
NM_000138.5(FBN1):c.8176C>T (p.Arg2726Trp) rs61746008 0.00070
NM_000138.5(FBN1):c.3422C>T (p.Pro1141Leu) rs2228241 0.00054
NM_000138.5(FBN1):c.6038-37G>A rs202137580 0.00051
NM_000138.5(FBN1):c.3058A>G (p.Thr1020Ala) rs111801777 0.00029
NM_000138.5(FBN1):c.7852G>A (p.Gly2618Arg) rs141133182 0.00019
NM_000138.5(FBN1):c.902G>T (p.Gly301Val) rs142888621 0.00018
NM_000138.5(FBN1):c.1323A>G (p.Pro441=) rs202030761 0.00011
NM_000138.5(FBN1):c.5297-19A>G rs375665466 0.00008
NM_000138.5(FBN1):c.6038-15_6038-14del rs752198920 0.00008
NM_000138.5(FBN1):c.7379A>G (p.Lys2460Arg) rs144189837 0.00008
NM_000138.5(FBN1):c.2434G>A (p.Glu812Lys) rs201778577 0.00006
NM_000138.5(FBN1):c.6302C>T (p.Thr2101Met) rs200816828 0.00006
NM_000138.5(FBN1):c.6577G>A (p.Glu2193Lys) rs201361628 0.00006
NM_000138.5(FBN1):c.7412C>G (p.Pro2471Arg) rs193922233 0.00006
NM_000138.5(FBN1):c.8149G>A (p.Glu2717Lys) rs187553035 0.00005
NM_000138.5(FBN1):c.3295G>A (p.Glu1099Lys) rs763485521 0.00004
NM_000138.5(FBN1):c.5921T>C (p.Ile1974Thr) rs765878996 0.00004
NM_000138.5(FBN1):c.8299A>G (p.Asn2767Asp) rs771437236 0.00004
NM_000138.5(FBN1):c.3223C>T (p.Arg1075Cys) rs186805359 0.00003
NM_000138.5(FBN1):c.5671+7A>G rs751170564 0.00003
NM_000138.5(FBN1):c.6044A>T (p.Asp2015Val) rs746719632 0.00003
NM_000138.5(FBN1):c.843A>C (p.Glu281Asp) rs772218768 0.00003
NM_000138.5(FBN1):c.3937G>A (p.Gly1313Ser) rs1156984408 0.00002
NM_000138.5(FBN1):c.5123G>A (p.Gly1708Glu) rs758600004 0.00002
NM_000138.5(FBN1):c.5180G>A (p.Arg1727Gln) rs780993677 0.00002
NM_000138.5(FBN1):c.6844C>T (p.Arg2282Trp) rs765205164 0.00002
NM_000138.5(FBN1):c.1169C>T (p.Ser390Phe) rs746385384 0.00001
NM_000138.5(FBN1):c.2294-19A>G rs1353634853 0.00001
NM_000138.5(FBN1):c.3031G>A (p.Gly1011Arg) rs1267721327 0.00001
NM_000138.5(FBN1):c.3740A>T (p.Asn1247Ile) rs568625812 0.00001
NM_000138.5(FBN1):c.4046G>C (p.Ser1349Thr) rs1373690375 0.00001
NM_000138.5(FBN1):c.5142G>A (p.Met1714Ile) rs368287795 0.00001
NM_000138.5(FBN1):c.5512G>A (p.Gly1838Ser) rs397515823 0.00001
NM_000138.5(FBN1):c.5771A>G (p.His1924Arg) rs748230405 0.00001
NM_000138.5(FBN1):c.5776A>G (p.Asn1926Asp) rs1060501097 0.00001
NM_000138.5(FBN1):c.6461C>G (p.Pro2154Arg) rs756219617 0.00001
NM_000138.5(FBN1):c.6659G>A (p.Arg2220Gln) rs780651466 0.00001
NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr) rs193922228 0.00001
NM_000138.5(FBN1):c.6970G>A (p.Ala2324Thr) rs148831709 0.00001
NM_000138.5(FBN1):c.776G>A (p.Gly259Glu) rs751169871 0.00001
NM_000138.5(FBN1):c.7848C>G (p.Ile2616Met) rs138184493 0.00001
NM_000138.5(FBN1):c.7903G>A (p.Ala2635Thr) rs746859988 0.00001
NM_000138.5(FBN1):c.8177G>A (p.Arg2726Gln) rs552157433 0.00001
NM_000138.5(FBN1):c.8326C>T (p.Arg2776Ter) rs137854466 0.00001
NM_000138.5(FBN1):c.862+3A>G rs1555401453 0.00001
NM_000138.5(FBN1):c.863A>G (p.Asp288Gly) rs565078451 0.00001
NM_000138.4(FBN1):c.3232_3236delinsATCTC (p.Pro1078_Asp1079delinsIleSer) rs1555398643
NM_000138.4(FBN1):c.8051delinsTT (p.Gly2684fs) rs1555393824
NM_000138.5(FBN1):c.1175C>T (p.Pro392Leu) rs534127494
NM_000138.5(FBN1):c.1328-9T>A rs1209671382
NM_000138.5(FBN1):c.1468G>T (p.Asp490Tyr) rs1555400371
NM_000138.5(FBN1):c.1556A>G (p.Tyr519Cys) rs1555400278
NM_000138.5(FBN1):c.1589-5T>C rs1371798538
NM_000138.5(FBN1):c.1589A>G (p.Asp530Gly) rs794728171
NM_000138.5(FBN1):c.1766A>G (p.Asn589Ser) rs1555399962
NM_000138.5(FBN1):c.1805T>C (p.Phe602Ser) rs1555399952
NM_000138.5(FBN1):c.1837+5G>A rs1445085747
NM_000138.5(FBN1):c.1928T>G (p.Leu643Arg) rs1555399813
NM_000138.5(FBN1):c.206_208del (p.Pro69_Gly70delinsArg) rs1555405660
NM_000138.5(FBN1):c.2258G>T (p.Gly753Val) rs1555399365
NM_000138.5(FBN1):c.2426A>G (p.Asp809Gly) rs1555399211
NM_000138.5(FBN1):c.2477G>A (p.Gly826Asp) rs1555399200
NM_000138.5(FBN1):c.2559C>G (p.Cys853Trp) rs111981744
NM_000138.5(FBN1):c.2657C>T (p.Pro886Leu) rs1060501083
NM_000138.5(FBN1):c.2677G>A (p.Asp893Asn) rs193922193
NM_000138.5(FBN1):c.2678-6T>G rs1555399102
NM_000138.5(FBN1):c.2723G>T (p.Cys908Phe) rs1057523406
NM_000138.5(FBN1):c.2792G>T (p.Gly931Val) rs200078617
NM_000138.5(FBN1):c.2813C>T (p.Pro938Leu) rs758257941
NM_000138.5(FBN1):c.3037G>A (p.Gly1013Arg) rs140593
NM_000138.5(FBN1):c.3081A>T (p.Lys1027Asn) rs1555398771
NM_000138.5(FBN1):c.3082+9T>G rs746303949
NM_000138.5(FBN1):c.3152T>C (p.Phe1051Ser) rs1555398668
NM_000138.5(FBN1):c.3208+5G>A rs1555398657
NM_000138.5(FBN1):c.3209-7T>A rs1459153455
NM_000138.5(FBN1):c.3212T>G (p.Ile1071Ser) rs1555398647
NM_000138.5(FBN1):c.3263A>G (p.Asn1088Ser) rs1555398635
NM_000138.5(FBN1):c.32T>A (p.Leu11Gln) rs1555407429
NM_000138.5(FBN1):c.32T>G (p.Leu11Arg) rs1555407429
NM_000138.5(FBN1):c.3382G>C (p.Val1128Leu) rs1555398573
NM_000138.5(FBN1):c.3464-16_3464-14del rs775944757
NM_000138.5(FBN1):c.3554G>A (p.Gly1185Asp) rs1555398512
NM_000138.5(FBN1):c.3650G>A (p.Gly1217Asp) rs1555398397
NM_000138.5(FBN1):c.372G>A (p.Met124Ile) rs1555405050
NM_000138.5(FBN1):c.3748G>T (p.Asp1250Tyr) rs1555398288
NM_000138.5(FBN1):c.3815C>A (p.Ser1272Tyr) rs1555398270
NM_000138.5(FBN1):c.3838+3A>T rs1555398265
NM_000138.5(FBN1):c.4009G>C (p.Ala1337Pro) rs753648789
NM_000138.5(FBN1):c.4125C>G (p.Ser1375Arg) rs1555397666
NM_000138.5(FBN1):c.4183T>C (p.Tyr1395His) rs1555397653
NM_000138.5(FBN1):c.4210+11G>A rs148057138
NM_000138.5(FBN1):c.425G>A (p.Gly142Glu) rs1555405036
NM_000138.5(FBN1):c.4347G>T (p.Glu1449Asp) rs1555397423
NM_000138.5(FBN1):c.4389C>A (p.Asn1463Lys) rs1555397412
NM_000138.5(FBN1):c.4460A>C (p.Asp1487Ala) rs1555397216
NM_000138.5(FBN1):c.4467T>A (p.Asn1489Lys) rs193922205
NM_000138.5(FBN1):c.4468G>A (p.Glu1490Lys) rs1060501076
NM_000138.5(FBN1):c.4511A>G (p.Asn1504Ser) rs1555397209
NM_000138.5(FBN1):c.4582+5G>C rs140633
NM_000138.5(FBN1):c.4748-3T>G rs770762644
NM_000138.5(FBN1):c.4787G>C (p.Arg1596Pro) rs769588424
NM_000138.5(FBN1):c.4795C>A (p.Pro1599Thr) rs1555397018
NM_000138.5(FBN1):c.5073AAG[1] (p.Arg1692del) rs1555396789
NM_000138.5(FBN1):c.5587G>A (p.Gly1863Arg) rs1555395987
NM_000138.5(FBN1):c.5722A>C (p.Thr1908Pro) rs1555395834
NM_000138.5(FBN1):c.5726T>C (p.Ile1909Thr) rs794728333
NM_000138.5(FBN1):c.5735T>C (p.Phe1912Ser) rs1555395830
NM_000138.5(FBN1):c.5743C>A (p.Arg1915Ser) rs1555395826
NM_000138.5(FBN1):c.5743C>T (p.Arg1915Cys) rs1555395826
NM_000138.5(FBN1):c.5788+36C>A rs1555395814
NM_000138.5(FBN1):c.5788+4C>A rs577301285
NM_000138.5(FBN1):c.5788+5G>T rs193922219
NM_000138.5(FBN1):c.5795A>C (p.Asp1932Ala) rs1329934461
NM_000138.5(FBN1):c.5834G>A (p.Gly1945Asp) rs1555395760
NM_000138.5(FBN1):c.5917+3A>C rs202158568
NM_000138.5(FBN1):c.5917+5G>T rs1555395743
NM_000138.5(FBN1):c.5927A>G (p.Glu1976Gly) rs1555395665
NM_000138.5(FBN1):c.5983T>C (p.Ser1995Pro) rs1555395649
NM_000138.5(FBN1):c.640G>A (p.Gly214Ser) rs794728162
NM_000138.5(FBN1):c.6453C>T (p.Cys2151=) rs794728251
NM_000138.5(FBN1):c.6496+5G>C rs1555395186
NM_000138.5(FBN1):c.6496G>A (p.Asp2166Asn) rs794728252
NM_000138.5(FBN1):c.6554T>C (p.Ile2185Thr) rs910656654
NM_000138.5(FBN1):c.6554T>G (p.Ile2185Ser) rs910656654
NM_000138.5(FBN1):c.6583G>A (p.Gly2195Arg) rs886038976
NM_000138.5(FBN1):c.6667A>C (p.Asn2223His) rs1555394919
NM_000138.5(FBN1):c.6678_6680del (p.Ser2227del) rs1555394913
NM_000138.5(FBN1):c.6697C>T (p.Pro2233Ser) rs794728255
NM_000138.5(FBN1):c.6740A>G (p.Asp2247Gly) rs1060501032
NM_000138.5(FBN1):c.6872-14A>G rs1064793119
NM_000138.5(FBN1):c.7003C>T (p.Arg2335Trp) rs794728262
NM_000138.5(FBN1):c.701G>A (p.Gly234Asp) rs1555401670
NM_000138.5(FBN1):c.7042T>C (p.Cys2348Arg) rs1555394576
NM_000138.5(FBN1):c.7184G>T (p.Gly2395Val) rs397515849
NM_000138.5(FBN1):c.7201G>T (p.Ala2401Ser) rs771260695
NM_000138.5(FBN1):c.7208T>A (p.Ile2403Asn) rs1555394449
NM_000138.5(FBN1):c.7247G>T (p.Gly2416Val) rs1555394442
NM_000138.5(FBN1):c.7330G>T (p.Asp2444Tyr) rs1555394434
NM_000138.5(FBN1):c.7505A>T (p.Asn2502Ile) rs1555394243
NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg) rs363811
NM_000138.5(FBN1):c.7699+5G>A rs1555394187
NM_000138.5(FBN1):c.7726C>T (p.Arg2576Cys) rs147195031
NM_000138.5(FBN1):c.7817_7819del (p.Val2606del) rs1555394136
NM_000138.5(FBN1):c.7819+3A>C rs1555394135
NM_000138.5(FBN1):c.7819+4A>G rs794728278
NM_000138.5(FBN1):c.7871A>G (p.Asn2624Ser) rs113935744
NM_000138.5(FBN1):c.7879G>C (p.Gly2627Arg) rs193922239
NM_000138.5(FBN1):c.7880G>T (p.Gly2627Val) rs1555393875
NM_000138.5(FBN1):c.7972C>G (p.Pro2658Ala) rs1555393851
NM_000138.5(FBN1):c.7980C>G (p.Ser2660Arg) rs1060501030
NM_000138.5(FBN1):c.8002G>T (p.Gly2668Cys) rs1057521100
NM_000138.5(FBN1):c.8069T>C (p.Met2690Thr) rs747476726
NM_000138.5(FBN1):c.8188C>T (p.Arg2730Trp) rs1371152380
NM_000138.5(FBN1):c.8312dup (p.Ser2772fs) rs1555393560
NM_000138.5(FBN1):c.8330T>C (p.Ile2777Thr) rs1555393556
NM_000138.5(FBN1):c.8377T>C (p.Tyr2793His) rs113722038
NM_000138.5(FBN1):c.8396del (p.Asn2799fs) rs1555393540
NM_000138.5(FBN1):c.8416dup (p.Ile2806fs) rs1555393538
NM_000138.5(FBN1):c.8428del (p.Glu2810fs) rs1555393535
NM_000138.5(FBN1):c.8447A>C (p.His2816Pro) rs1555393532
NM_000138.5(FBN1):c.8477C>G (p.Thr2826Ser) rs748384979
NM_000138.5(FBN1):c.8488C>T (p.Gln2830Ter) rs886038795
NM_000138.5(FBN1):c.8516dup (p.Lys2840fs) rs1555393514
NM_000138.5(FBN1):c.8525_8529del (p.Leu2842fs) rs1064794130
NM_000138.5(FBN1):c.860A>G (p.Glu287Gly) rs1555401454
NM_000138.5(FBN1):c.939C>G (p.Cys313Trp) rs1555401007

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