ClinVar Miner

List of variants reported as likely pathogenic for Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections

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Total variants: 100
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HGVS dbSNP gnomAD frequency
NM_000138.4(FBN1):c.4812_4813delinsCT (p.Leu1604_Glu1605delinsPheTer) rs1566903995
NM_000138.4(FBN1):c.7491_7498delinsAGCAACACAACCAAACAACACAATG (p.Phe2498fs) rs1566891846
NM_000138.5(FBN1):c.1042C>T (p.Gln348Ter) rs886039550
NM_000138.5(FBN1):c.1088del (p.Gly363fs) rs1555400598
NM_000138.5(FBN1):c.1148-2A>G rs397515756
NM_000138.5(FBN1):c.1185dup (p.Pro396fs) rs2043801575
NM_000138.5(FBN1):c.1297G>T (p.Glu433Ter) rs2141330884
NM_000138.5(FBN1):c.1377_1378del (p.Cys460fs) rs1597581008
NM_000138.5(FBN1):c.1426T>C (p.Cys476Arg) rs794728326
NM_000138.5(FBN1):c.1459G>T (p.Glu487Ter) rs1555400374
NM_000138.5(FBN1):c.1511G>C (p.Cys504Ser) rs1156747241
NM_000138.5(FBN1):c.1520del (p.Asn507fs)
NM_000138.5(FBN1):c.164+2T>A rs727503058
NM_000138.5(FBN1):c.1710T>A (p.Cys570Ter) rs193922183
NM_000138.5(FBN1):c.1714+1G>T rs2043745437
NM_000138.5(FBN1):c.1846G>A (p.Glu616Lys) rs397515764
NM_000138.5(FBN1):c.1868G>T (p.Cys623Phe) rs1566914030
NM_000138.5(FBN1):c.18_31dup (p.Leu11fs) rs1890262867
NM_000138.5(FBN1):c.1916G>C (p.Cys639Ser) rs878853676
NM_000138.5(FBN1):c.1961-1G>A rs2043686634
NM_000138.5(FBN1):c.1A>C (p.Met1Leu) rs730880097
NM_000138.5(FBN1):c.2096_2097del (p.Cys699fs) rs1555399748
NM_000138.5(FBN1):c.2131T>C (p.Cys711Arg) rs1555399481
NM_000138.5(FBN1):c.2227C>T (p.Arg743Cys) rs794728188
NM_000138.5(FBN1):c.2237A>G (p.Tyr746Cys) rs1555399372
NM_000138.5(FBN1):c.2242T>C (p.Cys748Arg) rs397515765
NM_000138.5(FBN1):c.2306G>A (p.Cys769Tyr) rs794728190
NM_000138.5(FBN1):c.2381dup (p.Phe796fs) rs2141305022
NM_000138.5(FBN1):c.2557T>A (p.Cys853Ser) rs1555399165
NM_000138.5(FBN1):c.2800A>T (p.Lys934Ter)
NM_000138.5(FBN1):c.2837del (p.Thr946fs) rs2043568185
NM_000138.5(FBN1):c.2939G>T (p.Cys980Phe) rs1555398816
NM_000138.5(FBN1):c.2953G>A (p.Gly985Arg) rs794728199
NM_000138.5(FBN1):c.3024T>A (p.Cys1008Ter) rs1057523654
NM_000138.5(FBN1):c.3146G>A (p.Gly1049Asp) rs1555398670
NM_000138.5(FBN1):c.3187dup (p.Ser1063fs) rs1566909885
NM_000138.5(FBN1):c.3209A>G (p.Asp1070Gly) rs1555398648
NM_000138.5(FBN1):c.3413G>C (p.Cys1138Ser) rs397515791
NM_000138.5(FBN1):c.3487_3488dup (p.Leu1165fs) rs2043515102
NM_000138.5(FBN1):c.3513C>G (p.Cys1171Trp) rs775417975
NM_000138.5(FBN1):c.385T>A (p.Cys129Ser) rs199474693
NM_000138.5(FBN1):c.401G>A (p.Cys134Tyr) rs1555405043
NM_000138.5(FBN1):c.4060del (p.Trp1354fs) rs1555397707
NM_000138.5(FBN1):c.4155del (p.Ser1386fs) rs2043402071
NM_000138.5(FBN1):c.4190del (p.Gly1397fs) rs2043401531
NM_000138.5(FBN1):c.4226_4227del (p.Cys1408_Ser1409insTer) rs1566905976
NM_000138.5(FBN1):c.4243dup (p.Cys1415fs) rs2043386417
NM_000138.5(FBN1):c.4311del (p.Ser1438fs) rs2141277871
NM_000138.5(FBN1):c.441del (p.Gln147fs) rs1555405028
NM_000138.5(FBN1):c.4467T>A (p.Asn1489Lys) rs193922205
NM_000138.5(FBN1):c.4520G>A (p.Gly1507Asp) rs794728225
NM_000138.5(FBN1):c.4551del (p.Phe1517fs) rs1555397201
NM_000138.5(FBN1):c.4562del (p.Pro1521fs) rs886039035
NM_000138.5(FBN1):c.4607del (p.Leu1536fs) rs1555397173
NM_000138.5(FBN1):c.4640_4641del (p.Thr1547fs) rs1555397163
NM_000138.5(FBN1):c.497G>A (p.Cys166Tyr) rs397515818
NM_000138.5(FBN1):c.5014T>G (p.Cys1672Gly) rs112930491
NM_000138.5(FBN1):c.5021G>C (p.Cys1674Ser)
NM_000138.5(FBN1):c.5089A>T (p.Arg1697Ter) rs2141266739
NM_000138.5(FBN1):c.51_52del (p.Leu17fs) rs2140787769
NM_000138.5(FBN1):c.5309G>A (p.Cys1770Tyr) rs2043241537
NM_000138.5(FBN1):c.539-2A>G rs2141358521
NM_000138.5(FBN1):c.5417G>T (p.Cys1806Phe) rs1555396418
NM_000138.5(FBN1):c.5422+2T>C rs1555396417
NM_000138.5(FBN1):c.5431G>A (p.Glu1811Lys) rs761857514
NM_000138.5(FBN1):c.5452T>C (p.Cys1818Arg)
NM_000138.5(FBN1):c.5512G>T (p.Gly1838Cys) rs397515823
NM_000138.5(FBN1):c.5521_5528del (p.Phe1841fs) rs193922212
NM_000138.5(FBN1):c.5540G>A (p.Cys1847Tyr) rs1555396185
NM_000138.5(FBN1):c.5540G>C (p.Cys1847Ser) rs1555396185
NM_000138.5(FBN1):c.556T>C (p.Cys186Arg) rs193922215
NM_000138.5(FBN1):c.5587G>A (p.Gly1863Arg) rs1555395987
NM_000138.5(FBN1):c.5663del (p.Met1888fs) rs1555395972
NM_000138.5(FBN1):c.5671+1del rs2141252078
NM_000138.5(FBN1):c.5743C>T (p.Arg1915Cys) rs1555395826
NM_000138.5(FBN1):c.5824T>C (p.Cys1942Arg) rs1555395762
NM_000138.5(FBN1):c.5874C>A (p.Cys1958Ter) rs1555395750
NM_000138.5(FBN1):c.5885A>G (p.Tyr1962Cys) rs1346043320
NM_000138.5(FBN1):c.5943del (p.Arg1982fs) rs1555395661
NM_000138.5(FBN1):c.5951G>A (p.Cys1984Tyr) rs1555395658
NM_000138.5(FBN1):c.626G>T (p.Cys209Phe) rs1555401687
NM_000138.5(FBN1):c.6276G>A (p.Trp2092Ter) rs1555395260
NM_000138.5(FBN1):c.6354C>G (p.Ile2118Met) rs112989722
NM_000138.5(FBN1):c.6824_6842del (p.Ile2275fs)
NM_000138.5(FBN1):c.7070_7071dup (p.Val2358fs) rs1555394571
NM_000138.5(FBN1):c.7168T>C (p.Cys2390Arg) rs397515847
NM_000138.5(FBN1):c.7352dup (p.Pro2452fs)
NM_000138.5(FBN1):c.7387G>T (p.Glu2463Ter) rs1566892735
NM_000138.5(FBN1):c.7432_7435del (p.Glu2478fs) rs1057518012
NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg) rs363811
NM_000138.5(FBN1):c.7663G>A (p.Gly2555Arg) rs1566891655
NM_000138.5(FBN1):c.7732C>T (p.Gln2578Ter) rs765942432
NM_000138.5(FBN1):c.7785_7806dup (p.Asn2603fs)
NM_000138.5(FBN1):c.7833C>A (p.Cys2611Ter)
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.8359_8360del (p.Leu2787fs) rs1597506811
NM_000138.5(FBN1):c.8359_8360dup (p.Leu2787_Thr2788insTer) rs1597506811
NM_000138.5(FBN1):c.863-2A>G
NM_000138.5(FBN1):c.945T>A (p.Cys315Ter) rs2043912235

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