ClinVar Miner

List of variants in gene FBN2 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_001999.4(FBN2):c.6946A>T (p.Ile2316Phe) rs201220519 0.00029
NM_001999.4(FBN2):c.3394G>A (p.Val1132Ile) rs138834515 0.00021
NM_001999.4(FBN2):c.8282C>T (p.Ala2761Val) rs201962592 0.00021
NM_001999.4(FBN2):c.157G>A (p.Gly53Ser) rs146807421 0.00010
NM_001999.4(FBN2):c.3296G>A (p.Arg1099His) rs202050092 0.00009
NM_001999.4(FBN2):c.3839C>T (p.Ser1280Leu) rs200481467 0.00007
NM_001999.4(FBN2):c.5495G>A (p.Arg1832His) rs140276399 0.00007
NM_001999.4(FBN2):c.7808T>C (p.Phe2603Ser) rs374507398 0.00006
NM_001999.4(FBN2):c.803A>G (p.Asn268Ser) rs760817242 0.00006
NM_001999.4(FBN2):c.4102G>A (p.Val1368Met) rs762139261 0.00005
NM_001999.4(FBN2):c.1140G>A (p.Pro380=) rs532059159 0.00004
NM_001999.4(FBN2):c.202G>T (p.Ala68Ser) rs767317022 0.00004
NM_001999.4(FBN2):c.6628C>T (p.Arg2210Cys) rs200158069 0.00004
NM_001999.4(FBN2):c.8168C>T (p.Pro2723Leu) rs746473847 0.00004
NM_001999.4(FBN2):c.3709C>T (p.Arg1237Cys) rs746570981 0.00003
NM_001999.4(FBN2):c.8192+7C>T rs376135657 0.00003
NM_001999.4(FBN2):c.101C>T (p.Pro34Leu) rs368006487 0.00002
NM_001999.4(FBN2):c.1238A>G (p.Tyr413Cys) rs576123258 0.00002
NM_001999.4(FBN2):c.2941G>A (p.Glu981Lys) rs758694112 0.00002
NM_001999.4(FBN2):c.3349G>A (p.Asp1117Asn) rs537477883 0.00002
NM_001999.4(FBN2):c.5678G>A (p.Arg1893His) rs368384428 0.00002
NM_001999.4(FBN2):c.5819G>A (p.Arg1940Gln) rs749907917 0.00002
NM_001999.4(FBN2):c.6910G>A (p.Asp2304Asn) rs368802769 0.00002
NM_001999.4(FBN2):c.2308A>C (p.Asn770His) rs772662395 0.00001
NM_001999.4(FBN2):c.419C>T (p.Thr140Ile) rs779952945 0.00001
NM_001999.4(FBN2):c.5426T>C (p.Ile1809Thr) rs766034866 0.00001
NM_001999.4(FBN2):c.574G>A (p.Gly192Arg) rs376398925 0.00001
NM_001999.4(FBN2):c.680G>A (p.Gly227Glu) rs760247833 0.00001
NM_001999.4(FBN2):c.7886A>G (p.Gln2629Arg) rs768750542 0.00001
NM_001999.4(FBN2):c.1079-8A>T rs761013637
NM_001999.4(FBN2):c.1899del (p.Asn634fs) rs1581250307
NM_001999.4(FBN2):c.2753C>A (p.Ser918Tyr) rs761190567
NM_001999.4(FBN2):c.2918A>G (p.Asn973Ser) rs2126919826
NM_001999.4(FBN2):c.313C>T (p.Pro105Ser) rs1581379020
NM_001999.4(FBN2):c.3351C>G (p.Asp1117Glu)
NM_001999.4(FBN2):c.3481G>A (p.Glu1161Lys) rs1554123065
NM_001999.4(FBN2):c.3490C>T (p.Arg1164Cys) rs886039059
NM_001999.4(FBN2):c.3722C>T (p.Thr1241Ile) rs1171139646
NM_001999.4(FBN2):c.3856G>C (p.Glu1286Gln) rs2126896995
NM_001999.4(FBN2):c.3890G>A (p.Gly1297Asp)
NM_001999.4(FBN2):c.4070C>T (p.Ser1357Leu) rs1750790386
NM_001999.4(FBN2):c.4363G>A (p.Glu1455Lys) rs756212784
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.5446C>G (p.Pro1816Ala) rs1561760487
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.6152G>T (p.Ser2051Ile)
NM_001999.4(FBN2):c.6167A>G (p.Asp2056Gly)
NM_001999.4(FBN2):c.6349A>G (p.Lys2117Glu) rs2126821327
NM_001999.4(FBN2):c.6414C>G (p.Asp2138Glu) rs1449873424
NM_001999.4(FBN2):c.6848A>G (p.Tyr2283Cys) rs1749183860
NM_001999.4(FBN2):c.6881-3T>C
NM_001999.4(FBN2):c.697G>A (p.Val233Ile)
NM_001999.4(FBN2):c.6986G>T (p.Arg2329Leu) rs370804151
NM_001999.4(FBN2):c.866G>A (p.Gly289Glu) rs1754069364

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