ClinVar Miner

List of variants in gene FBN2 reported as uncertain significance for Connective tissue disease

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Total variants: 8
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HGVS dbSNP
NM_001999.4(FBN2):c.1897A>G (p.Ile633Val) rs748419325
NM_001999.4(FBN2):c.2507C>T (p.Thr836Met) rs957177447
NM_001999.4(FBN2):c.3061C>T (p.Arg1021Cys) rs541842635
NM_001999.4(FBN2):c.3430G>A (p.Glu1144Lys) rs200060005
NM_001999.4(FBN2):c.3883G>A (p.Asp1295Asn) rs759131544
NM_001999.4(FBN2):c.4454A>G (p.Asp1485Gly) rs199665922
NM_001999.4(FBN2):c.5267A>G (p.Asn1756Ser) rs760065931
NM_001999.4(FBN2):c.5495G>A (p.Arg1832His) rs140276399

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