ClinVar Miner

List of variants in gene FBN2 reported by CeGaT Praxis fuer Humangenetik Tuebingen

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Gene type:
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Total variants: 50
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HGVS dbSNP
NM_001999.4(FBN2):c.1079-8A>T rs761013637
NM_001999.4(FBN2):c.1140G>A (p.Pro380=) rs532059159
NM_001999.4(FBN2):c.1466-4G>A rs371636769
NM_001999.4(FBN2):c.1899del (p.Asn634fs) rs1581250307
NM_001999.4(FBN2):c.202G>T (p.Ala68Ser) rs767317022
NM_001999.4(FBN2):c.2199A>G (p.Pro733=)
NM_001999.4(FBN2):c.2308A>C (p.Asn770His) rs772662395
NM_001999.4(FBN2):c.2457G>A (p.Leu819=)
NM_001999.4(FBN2):c.2753C>A (p.Ser918Tyr) rs761190567
NM_001999.4(FBN2):c.2941G>A (p.Glu981Lys) rs758694112
NM_001999.4(FBN2):c.3003G>A (p.Glu1001=) rs1064797312
NM_001999.4(FBN2):c.3136A>G (p.Lys1046Glu)
NM_001999.4(FBN2):c.313C>T (p.Pro105Ser) rs1581379020
NM_001999.4(FBN2):c.3394G>A (p.Val1132Ile) rs138834515
NM_001999.4(FBN2):c.3420C>T (p.Cys1140=) rs756541654
NM_001999.4(FBN2):c.3481G>A (p.Glu1161Lys) rs1554123065
NM_001999.4(FBN2):c.3709C>T (p.Arg1237Cys) rs746570981
NM_001999.4(FBN2):c.3722C>T (p.Thr1241Ile) rs1171139646
NM_001999.4(FBN2):c.3839C>T (p.Ser1280Leu) rs200481467
NM_001999.4(FBN2):c.4102G>A (p.Val1368Met) rs762139261
NM_001999.4(FBN2):c.419C>T (p.Thr140Ile)
NM_001999.4(FBN2):c.4363G>A (p.Glu1455Lys)
NM_001999.4(FBN2):c.4727T>C (p.Val1576Ala) rs1581208599
NM_001999.4(FBN2):c.4762G>T (p.Asp1588Tyr) rs1581208564
NM_001999.4(FBN2):c.4983C>T (p.Cys1661=) rs143907156
NM_001999.4(FBN2):c.5118G>A (p.Gly1706=) rs1284156837
NM_001999.4(FBN2):c.533-4G>T rs372596001
NM_001999.4(FBN2):c.5446C>G (p.Pro1816Ala) rs1561760487
NM_001999.4(FBN2):c.5495G>A (p.Arg1832His) rs140276399
NM_001999.4(FBN2):c.58G>T (p.Val20Leu) rs756126862
NM_001999.4(FBN2):c.595G>A (p.Val199Ile) rs1561495409
NM_001999.4(FBN2):c.5984G>C (p.Gly1995Ala) rs762268575
NM_001999.4(FBN2):c.5990T>C (p.Phe1997Ser) rs754066538
NM_001999.4(FBN2):c.6291T>G (p.Phe2097Leu) rs898218975
NM_001999.4(FBN2):c.6414C>G (p.Asp2138Glu)
NM_001999.4(FBN2):c.6628C>T (p.Arg2210Cys) rs200158069
NM_001999.4(FBN2):c.6848A>G (p.Tyr2283Cys)
NM_001999.4(FBN2):c.6946A>T (p.Ile2316Phe) rs201220519
NM_001999.4(FBN2):c.6982G>T (p.Ala2328Ser) rs199910288
NM_001999.4(FBN2):c.6986G>T (p.Arg2329Leu) rs370804151
NM_001999.4(FBN2):c.7622_7629del (p.His2541fs)
NM_001999.4(FBN2):c.7767A>G (p.Gln2589=)
NM_001999.4(FBN2):c.7808T>C (p.Phe2603Ser) rs374507398
NM_001999.4(FBN2):c.7886A>G (p.Gln2629Arg) rs768750542
NM_001999.4(FBN2):c.803A>G (p.Asn268Ser) rs760817242
NM_001999.4(FBN2):c.8082C>A (p.His2694Gln) rs142755118
NM_001999.4(FBN2):c.8192+7C>T rs376135657
NM_001999.4(FBN2):c.8282C>T (p.Ala2761Val) rs201962592
NM_001999.4(FBN2):c.8376C>G (p.Ile2792Met) rs142747169
NM_001999.4(FBN2):c.866G>A (p.Gly289Glu)

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