ClinVar Miner

List of variants in gene FBN1 reported as uncertain significance by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Gene type:
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Total variants: 68
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HGVS dbSNP gnomAD frequency
NM_000138.5(FBN1):c.6700G>A (p.Val2234Met) rs112084407 0.00078
NM_000138.5(FBN1):c.7346A>G (p.Asn2449Ser) rs146166400 0.00049
NM_000138.5(FBN1):c.4640C>T (p.Thr1547Ile) rs183306990 0.00030
NM_000138.5(FBN1):c.4750G>A (p.Glu1584Lys) rs148888513 0.00029
NM_000138.5(FBN1):c.6314-15G>A rs200841830 0.00023
NM_000138.5(FBN1):c.7852G>A (p.Gly2618Arg) rs141133182 0.00019
NM_000138.5(FBN1):c.4727T>C (p.Met1576Thr) rs776625874 0.00018
NM_000138.5(FBN1):c.902G>T (p.Gly301Val) rs142888621 0.00018
NM_000138.5(FBN1):c.3514G>A (p.Val1172Met) rs200125037 0.00017
NM_000138.5(FBN1):c.3423G>A (p.Pro1141=) rs140396599 0.00015
NM_000138.5(FBN1):c.1571C>T (p.Thr524Met) rs370575495 0.00014
NM_000138.5(FBN1):c.4001G>A (p.Gly1334Asp) rs191989961 0.00014
NM_000138.5(FBN1):c.7661G>A (p.Arg2554Gln) rs199522781 0.00014
NM_000138.5(FBN1):c.185G>A (p.Arg62His) rs145942328 0.00012
NM_000138.5(FBN1):c.1345G>A (p.Val449Ile) rs139058991 0.00009
NM_000138.5(FBN1):c.7379A>G (p.Lys2460Arg) rs144189837 0.00008
NM_000138.5(FBN1):c.7999G>A (p.Glu2667Lys) rs149062442 0.00006
NM_000138.5(FBN1):c.8071G>A (p.Gly2691Ser) rs145105768 0.00006
NM_000138.5(FBN1):c.2927G>A (p.Arg976His) rs140954477 0.00005
NM_000138.5(FBN1):c.3503A>G (p.Asn1168Ser) rs776667707 0.00004
NM_000138.5(FBN1):c.164+5A>G rs397515760 0.00003
NM_000138.5(FBN1):c.378A>G (p.Gly126=) rs149611106 0.00003
NM_000138.5(FBN1):c.8219A>G (p.Asn2740Ser) rs193922242 0.00003
NM_000138.5(FBN1):c.165-7G>A rs397515761 0.00001
NM_000138.5(FBN1):c.1676C>T (p.Ala559Val) rs141551765 0.00001
NM_000138.5(FBN1):c.1844A>G (p.Asn615Ser) rs397515763 0.00001
NM_000138.5(FBN1):c.2188G>A (p.Asp730Asn) rs199625633 0.00001
NM_000138.5(FBN1):c.3209-3C>A rs397515787 0.00001
NM_000138.5(FBN1):c.3560A>G (p.His1187Arg) rs193922200 0.00001
NM_000138.5(FBN1):c.370A>G (p.Met124Val) rs764224168 0.00001
NM_000138.5(FBN1):c.4106A>G (p.Asn1369Ser) rs370923981 0.00001
NM_000138.5(FBN1):c.5509C>T (p.Pro1837Ser) rs755430984 0.00001
NM_000138.5(FBN1):c.7082C>T (p.Ser2361Leu) rs397515844 0.00001
NM_000138.5(FBN1):c.8218A>G (p.Asn2740Asp) rs397515860 0.00001
NM_000138.5(FBN1):c.8543A>C (p.Lys2848Thr) rs765839151 0.00001
NM_000138.5(FBN1):c.1453C>T (p.Arg485Cys) rs137854485
NM_000138.5(FBN1):c.1846G>A (p.Glu616Lys) rs397515764
NM_000138.5(FBN1):c.2519C>T (p.Pro840Leu) rs397515777
NM_000138.5(FBN1):c.2537T>C (p.Ile846Thr) rs876657809
NM_000138.5(FBN1):c.2743G>A (p.Glu915Lys) rs746834413
NM_000138.5(FBN1):c.2757A>G (p.Gly919=) rs397515780
NM_000138.5(FBN1):c.3589G>A (p.Asp1197Asn) rs397515793
NM_000138.5(FBN1):c.3772C>T (p.Pro1258Ser) rs397515795
NM_000138.5(FBN1):c.415G>C (p.Gly139Arg) rs397515800
NM_000138.5(FBN1):c.4202C>A (p.Thr1401Asn) rs1555397648
NM_000138.5(FBN1):c.4337A>T (p.Asp1446Val) rs397515806
NM_000138.5(FBN1):c.4459+3A>T rs397515809
NM_000138.5(FBN1):c.4467T>A (p.Asn1489Lys) rs193922205
NM_000138.5(FBN1):c.4942+4A>G rs397515815
NM_000138.5(FBN1):c.5225-3C>A rs876657810
NM_000138.5(FBN1):c.5719A>G (p.Asn1907Asp) rs397515824
NM_000138.5(FBN1):c.5959G>C (p.Gly1987Arg) rs727504642
NM_000138.5(FBN1):c.6446A>G (p.Tyr2149Cys) rs113080385
NM_000138.5(FBN1):c.6690C>G (p.Cys2230Trp) rs727504931
NM_000138.5(FBN1):c.6746A>G (p.Asp2249Gly) rs397515838
NM_000138.5(FBN1):c.697C>T (p.Arg233Cys) rs397515841
NM_000138.5(FBN1):c.6992G>A (p.Cys2331Tyr) rs397515842
NM_000138.5(FBN1):c.6997+4A>G rs727503055
NM_000138.5(FBN1):c.7184G>T (p.Gly2395Val) rs397515849
NM_000138.5(FBN1):c.7203A>G (p.Ala2401=) rs397515850
NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg) rs363811
NM_000138.5(FBN1):c.7640G>T (p.Ser2547Ile) rs397515855
NM_000138.5(FBN1):c.7699+5del rs397515856
NM_000138.5(FBN1):c.7784G>T (p.Gly2595Val) rs397515857
NM_000138.5(FBN1):c.787A>G (p.Ile263Val) rs876657811
NM_000138.5(FBN1):c.7892G>A (p.Cys2631Tyr) rs111856492
NM_000138.5(FBN1):c.8362_8386delinsGA (p.Thr2788fs) rs397515862
NM_000138.5(FBN1):c.8378A>G (p.Tyr2793Cys) rs397515863

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