ClinVar Miner

List of variants in gene FBN3 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_032447.5(FBN3):c.3875A>G (p.Asp1292Gly) rs146679363 0.00653
NM_032447.5(FBN3):c.1466-6C>T rs151062338 0.00549
NM_032447.5(FBN3):c.7846G>A (p.Gly2616Arg) rs142418616 0.00503
NM_032447.5(FBN3):c.4738G>A (p.Val1580Ile) rs151274163 0.00451
NM_032447.5(FBN3):c.3426C>T (p.Ala1142=) rs139062839 0.00447
NM_032447.5(FBN3):c.1466-8C>T rs201449200 0.00308
NM_032447.5(FBN3):c.6604G>A (p.Gly2202Arg) rs138457751 0.00299
NM_032447.5(FBN3):c.3141G>A (p.Thr1047=) rs114688628 0.00262
NM_032447.5(FBN3):c.4020T>C (p.Asn1340=) rs141016150 0.00249
NM_032447.5(FBN3):c.1783C>T (p.Arg595Cys) rs61729592 0.00220
NM_032447.5(FBN3):c.8366C>A (p.Pro2789Gln) rs35794930 0.00218
NM_032447.5(FBN3):c.4056C>T (p.Gly1352=) rs138217583 0.00198
NM_032447.5(FBN3):c.6444C>T (p.Phe2148=) rs148013574 0.00190
NM_032447.5(FBN3):c.7269G>T (p.Thr2423=) rs150192643 0.00166
NM_032447.5(FBN3):c.5223C>T (p.Ile1741=) rs138444808 0.00089
NM_032447.5(FBN3):c.8199A>G (p.Leu2733=) rs148313867 0.00063
NM_032447.5(FBN3):c.5796G>A (p.Glu1932=) rs147423270 0.00049
NM_032447.5(FBN3):c.4440C>T (p.Ser1480=) rs373066640 0.00047
NM_032447.5(FBN3):c.1121C>G (p.Pro374Arg) rs142847357 0.00043
NM_032447.5(FBN3):c.1734G>A (p.Thr578=)
NM_032447.5(FBN3):c.2394C>T (p.Asp798=)
NM_032447.5(FBN3):c.3098G>T (p.Arg1033Leu)
NM_032447.5(FBN3):c.3099C>T (p.Arg1033=)
NM_032447.5(FBN3):c.4488G>A (p.Thr1496=) rs143694434
NM_032447.5(FBN3):c.531A>G (p.Gln177=)
NM_032447.5(FBN3):c.5547C>T (p.Asp1849=)
NM_032447.5(FBN3):c.6832G>C (p.Asp2278His) rs144887983
NM_032447.5(FBN3):c.6930G>A (p.Arg2310=)
NM_032447.5(FBN3):c.7731C>G (p.Pro2577=)
NM_032447.5(FBN3):c.7780G>A (p.Val2594Ile) rs35318692

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