ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 180
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HGVS dbSNP gnomAD frequency
NM_000138.5(FBN1):c.4460-8G>A rs193922204 0.00001
NM_000138.5(FBN1):c.5512G>A (p.Gly1838Ser) rs397515823 0.00001
NM_000138.5(FBN1):c.6448C>T (p.Arg2150Cys) rs76702162 0.00001
NM_000138.5(FBN1):c.6772T>G (p.Cys2258Gly) rs1057520617 0.00001
NM_000138.5(FBN1):c.7339G>A (p.Glu2447Lys) rs137854464 0.00001
NM_000138.4:c.1783_1784insALU
NM_000138.5(FBN1):c.1148-1G>C
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.1427G>A (p.Cys476Tyr) rs2043792070
NM_000138.5(FBN1):c.1428C>G (p.Cys476Trp)
NM_000138.5(FBN1):c.1556A>G (p.Tyr519Cys) rs1555400278
NM_000138.5(FBN1):c.1600T>C (p.Cys534Arg)
NM_000138.5(FBN1):c.164+1G>C
NM_000138.5(FBN1):c.164G>C (p.Gly55Ala)
NM_000138.5(FBN1):c.1663T>C (p.Cys555Arg) rs2043746138
NM_000138.5(FBN1):c.1754G>A (p.Gly585Glu) rs1060501041
NM_000138.5(FBN1):c.1787G>A (p.Cys596Tyr) rs2043732180
NM_000138.5(FBN1):c.1837+5G>A rs1445085747
NM_000138.5(FBN1):c.1837G>A (p.Asp613Asn) rs1555399943
NM_000138.5(FBN1):c.1883G>C (p.Cys628Ser)
NM_000138.5(FBN1):c.1904A>G (p.Tyr635Cys) rs1555399816
NM_000138.5(FBN1):c.1909T>A (p.Cys637Ser)
NM_000138.5(FBN1):c.1948C>T (p.Arg650Cys) rs193922185
NM_000138.5(FBN1):c.202T>A (p.Cys68Ser) rs113604459
NM_000138.5(FBN1):c.2050T>C (p.Cys684Arg) rs1555399764
NM_000138.5(FBN1):c.2168A>C (p.Asp723Ala) rs137854463
NM_000138.5(FBN1):c.2200T>A (p.Cys734Ser)
NM_000138.5(FBN1):c.2201G>A (p.Cys734Tyr) rs794728187
NM_000138.5(FBN1):c.2287T>C (p.Cys763Arg) rs1555399361
NM_000138.5(FBN1):c.2294-1G>A
NM_000138.5(FBN1):c.2341T>C (p.Cys781Arg) rs397515766
NM_000138.5(FBN1):c.2342G>A (p.Cys781Tyr) rs1555399271
NM_000138.5(FBN1):c.2369G>A (p.Cys790Tyr) rs193922188
NM_000138.5(FBN1):c.2375G>T (p.Cys792Phe) rs886038984
NM_000138.5(FBN1):c.239G>A (p.Cys80Tyr) rs397515767
NM_000138.5(FBN1):c.2419+1G>A rs1555399257
NM_000138.5(FBN1):c.2432G>A (p.Cys811Tyr) rs1555399210
NM_000138.5(FBN1):c.2463C>G (p.Cys821Trp) rs1555399205
NM_000138.5(FBN1):c.247+1G>T rs25404
NM_000138.5(FBN1):c.2489G>C (p.Cys830Ser) rs397515774
NM_000138.5(FBN1):c.2489G>T (p.Cys830Phe)
NM_000138.5(FBN1):c.2624G>A (p.Cys875Tyr) rs886039038
NM_000138.5(FBN1):c.2639G>A (p.Gly880Asp) rs886038953
NM_000138.5(FBN1):c.2644G>A (p.Ala882Thr) rs2043594915
NM_000138.5(FBN1):c.2677G>A (p.Asp893Asn) rs193922193
NM_000138.5(FBN1):c.2728+2T>C rs886038898
NM_000138.5(FBN1):c.2729-2A>G rs113813525
NM_000138.5(FBN1):c.2740T>G (p.Cys914Gly) rs1555398994
NM_000138.5(FBN1):c.2855-1G>C rs112202622
NM_000138.5(FBN1):c.2860C>T (p.Arg954Cys) rs1555398835
NM_000138.5(FBN1):c.2954G>A (p.Gly985Glu) rs137854477
NM_000138.5(FBN1):c.3124G>A (p.Gly1042Ser) rs1555398681
NM_000138.5(FBN1):c.3125G>A (p.Gly1042Asp) rs1555398680
NM_000138.5(FBN1):c.3209-1G>A
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.3457T>C (p.Cys1153Arg) rs886038877
NM_000138.5(FBN1):c.3458G>A (p.Cys1153Tyr) rs140599
NM_000138.5(FBN1):c.3545G>A (p.Cys1182Tyr) rs1597562812
NM_000138.5(FBN1):c.3584G>A (p.Cys1195Tyr) rs886038802
NM_000138.5(FBN1):c.3632_3634del (p.Phe1211del) rs1555398404
NM_000138.5(FBN1):c.3676G>A (p.Gly1226Arg)
NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn) rs794728208
NM_000138.5(FBN1):c.3746G>C (p.Cys1249Ser) rs137854458
NM_000138.5(FBN1):c.3793T>G (p.Cys1265Gly)
NM_000138.5(FBN1):c.3794G>A (p.Cys1265Tyr)
NM_000138.5(FBN1):c.3833G>C (p.Cys1278Ser)
NM_000138.5(FBN1):c.3834T>G (p.Cys1278Trp) rs886039492
NM_000138.5(FBN1):c.3958T>A (p.Cys1320Ser)
NM_000138.5(FBN1):c.3963A>G (p.Thr1321=) rs140648
NM_000138.5(FBN1):c.4043G>A (p.Cys1348Tyr) rs1555397720
NM_000138.5(FBN1):c.408C>G (p.Cys136Trp) rs1555405039
NM_000138.5(FBN1):c.4100G>A (p.Cys1367Tyr) rs2141279869
NM_000138.5(FBN1):c.4204T>C (p.Cys1402Arg)
NM_000138.5(FBN1):c.4206T>G (p.Cys1402Trp)
NM_000138.5(FBN1):c.433T>C (p.Cys145Arg) rs1555405031
NM_000138.5(FBN1):c.434G>A (p.Cys145Tyr) rs878853682
NM_000138.5(FBN1):c.4366T>G (p.Cys1456Gly)
NM_000138.5(FBN1):c.4367G>A (p.Cys1456Tyr) rs397515805
NM_000138.5(FBN1):c.4459+1del
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.448T>C (p.Cys150Arg) rs1555404819
NM_000138.5(FBN1):c.4526A>G (p.Tyr1509Cys) rs730880102
NM_000138.5(FBN1):c.4531T>C (p.Cys1511Arg) rs397515811
NM_000138.5(FBN1):c.4537T>G (p.Cys1513Gly)
NM_000138.5(FBN1):c.4577G>A (p.Cys1526Tyr) rs886039120
NM_000138.5(FBN1):c.4589G>C (p.Arg1530Pro) rs778710767
NM_000138.5(FBN1):c.4601G>C (p.Cys1534Ser) rs112559031
NM_000138.5(FBN1):c.4684T>C (p.Cys1562Arg) rs193922207
NM_000138.5(FBN1):c.4817-2A>G rs1555397008
NM_000138.5(FBN1):c.4864T>C (p.Cys1622Arg)
NM_000138.5(FBN1):c.4937G>C (p.Cys1646Ser)
NM_000138.5(FBN1):c.496T>A (p.Cys166Ser) rs363852
NM_000138.5(FBN1):c.496T>C (p.Cys166Arg) rs363852
NM_000138.5(FBN1):c.5155T>C (p.Cys1719Arg) rs886038838
NM_000138.5(FBN1):c.5345G>A (p.Cys1782Tyr) rs1555396429
NM_000138.5(FBN1):c.5371T>A (p.Cys1791Ser)
NM_000138.5(FBN1):c.5371T>C (p.Cys1791Arg) rs1555396427
NM_000138.5(FBN1):c.5372G>A (p.Cys1791Tyr) rs886038848
NM_000138.5(FBN1):c.5417G>C (p.Cys1806Ser)
NM_000138.5(FBN1):c.5417G>T (p.Cys1806Phe) rs1555396418
NM_000138.5(FBN1):c.5431G>A (p.Glu1811Lys) rs761857514
NM_000138.5(FBN1):c.5452T>C (p.Cys1818Arg)
NM_000138.5(FBN1):c.5542_5545+11del
NM_000138.5(FBN1):c.5557T>C (p.Cys1853Arg) rs1555395990
NM_000138.5(FBN1):c.557G>A (p.Cys186Tyr)
NM_000138.5(FBN1):c.5626T>C (p.Cys1876Arg) rs1555395980
NM_000138.5(FBN1):c.5680G>A (p.Glu1894Lys) rs1057521101
NM_000138.5(FBN1):c.5683T>C (p.Cys1895Arg) rs878853686
NM_000138.5(FBN1):c.5698T>A (p.Cys1900Ser) rs1555395840
NM_000138.5(FBN1):c.5700T>G (p.Cys1900Trp)
NM_000138.5(FBN1):c.5726T>C (p.Ile1909Thr) rs794728333
NM_000138.5(FBN1):c.5741G>A (p.Cys1914Tyr)
NM_000138.5(FBN1):c.5743C>T (p.Arg1915Cys) rs1555395826
NM_000138.5(FBN1):c.5788G>A (p.Asp1930Asn) rs1555395820
NM_000138.5(FBN1):c.5911T>C (p.Cys1971Arg) rs1555395745
NM_000138.5(FBN1):c.5912G>A (p.Cys1971Tyr) rs111239111
NM_000138.5(FBN1):c.5912G>T (p.Cys1971Phe)
NM_000138.5(FBN1):c.5918-2A>G rs869025418
NM_000138.5(FBN1):c.5918A>G (p.Asp1973Gly) rs794728242
NM_000138.5(FBN1):c.5930G>A (p.Cys1977Tyr) rs1555395663
NM_000138.5(FBN1):c.5951G>A (p.Cys1984Tyr) rs1555395658
NM_000138.5(FBN1):c.5959G>C (p.Gly1987Arg) rs727504642
NM_000138.5(FBN1):c.5967T>G (p.Cys1989Trp) rs1555395652
NM_000138.5(FBN1):c.6032G>A (p.Cys2011Tyr) rs886038967
NM_000138.5(FBN1):c.6037+1G>A rs1064796636
NM_000138.5(FBN1):c.6046G>A (p.Glu2016Lys) rs2141245531
NM_000138.5(FBN1):c.6049T>G (p.Cys2017Gly)
NM_000138.5(FBN1):c.6119G>T (p.Cys2040Phe)
NM_000138.5(FBN1):c.6181T>C (p.Cys2061Arg) rs1555395267
NM_000138.5(FBN1):c.6209G>A (p.Cys2070Tyr) rs1060501044
NM_000138.5(FBN1):c.6247T>C (p.Cys2083Arg)
NM_000138.5(FBN1):c.6313+3A>T
NM_000138.5(FBN1):c.6314-1G>A
NM_000138.5(FBN1):c.641G>A (p.Gly214Asp)
NM_000138.5(FBN1):c.6425G>A (p.Cys2142Tyr) rs794728335
NM_000138.5(FBN1):c.6430A>C (p.Asn2144His) rs886038943
NM_000138.5(FBN1):c.6446A>G (p.Tyr2149Cys) rs113080385
NM_000138.5(FBN1):c.6466G>T (p.Gly2156Cys)
NM_000138.5(FBN1):c.6583G>A (p.Gly2195Arg) rs886038976
NM_000138.5(FBN1):c.6628T>C (p.Cys2210Arg) rs794728253
NM_000138.5(FBN1):c.6629G>A (p.Cys2210Tyr) rs2141235242
NM_000138.5(FBN1):c.6689G>A (p.Cys2230Tyr) rs1555394904
NM_000138.5(FBN1):c.6751T>A (p.Cys2251Ser) rs112836174
NM_000138.5(FBN1):c.6773G>A (p.Cys2258Tyr) rs886039047
NM_000138.5(FBN1):c.6821G>C (p.Cys2274Ser)
NM_000138.5(FBN1):c.6822C>G (p.Cys2274Trp)
NM_000138.5(FBN1):c.6866G>T (p.Cys2289Phe) rs1566894230
NM_000138.5(FBN1):c.6904T>A (p.Cys2302Ser) rs886039092
NM_000138.5(FBN1):c.6991T>A (p.Cys2331Ser) rs886038894
NM_000138.5(FBN1):c.7363T>C (p.Cys2455Arg) rs886038930
NM_000138.5(FBN1):c.7402T>C (p.Cys2468Arg) rs1085308004
NM_000138.5(FBN1):c.7403G>A (p.Cys2468Tyr) rs1555394400
NM_000138.5(FBN1):c.7408T>C (p.Cys2470Arg) rs1555394399
NM_000138.5(FBN1):c.7448G>A (p.Cys2483Tyr) rs1555394390
NM_000138.5(FBN1):c.7525T>G (p.Cys2509Gly) rs1060501055
NM_000138.5(FBN1):c.7533T>G (p.Cys2511Trp) rs750331217
NM_000138.5(FBN1):c.7649G>C (p.Cys2550Ser) rs1555394196
NM_000138.5(FBN1):c.7699+1G>A rs1555394189
NM_000138.5(FBN1):c.7742G>A (p.Cys2581Tyr) rs1555394149
NM_000138.5(FBN1):c.7742G>T (p.Cys2581Phe) rs1555394149
NM_000138.5(FBN1):c.7763A>G (p.Tyr2588Cys) rs1566891436
NM_000138.5(FBN1):c.7784G>A (p.Gly2595Asp) rs397515857
NM_000138.5(FBN1):c.7832G>A (p.Cys2611Tyr) rs794728337
NM_000138.5(FBN1):c.785G>T (p.Cys262Phe)
NM_000138.5(FBN1):c.7865G>A (p.Cys2622Tyr) rs1555393880
NM_000138.5(FBN1):c.7880G>A (p.Gly2627Glu) rs1555393875
NM_000138.5(FBN1):c.7886A>G (p.Tyr2629Cys)
NM_000138.5(FBN1):c.7897T>C (p.Cys2633Arg) rs1555393871
NM_000138.5(FBN1):c.8003G>A (p.Gly2668Asp) rs1555393837
NM_000138.5(FBN1):c.8005G>T (p.Gly2669Cys) rs794728281
NM_000138.5(FBN1):c.8006G>T (p.Gly2669Val) rs886038869
NM_000138.5(FBN1):c.8014T>G (p.Cys2672Gly) rs1555393833
NM_000138.5(FBN1):c.8038C>T (p.Arg2680Cys) rs794728283
NM_000138.5(FBN1):c.812G>A (p.Cys271Tyr)
NM_000138.5(FBN1):c.813C>G (p.Cys271Trp) rs765692335
NM_000138.5(FBN1):c.8436dup (p.Ser2813fs)
NM_000138.5(FBN1):c.8607del (p.Leu2869fs)

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