ClinVar Miner

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

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Gene type:
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Total variants: 10
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HGVS dbSNP
NM_001999.4(FBN2):c.1466-4G>A rs371636769
NM_001999.4(FBN2):c.2199A>G (p.Pro733=)
NM_001999.4(FBN2):c.2457G>A (p.Leu819=)
NM_001999.4(FBN2):c.3420C>T (p.Cys1140=) rs756541654
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.6291T>G (p.Phe2097Leu) rs898218975
NM_001999.4(FBN2):c.6982G>T (p.Ala2328Ser) rs199910288
NM_001999.4(FBN2):c.7767A>G (p.Gln2589=)

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