ClinVar Miner

List of variants in gene FBN2 reported as pathogenic by Invitae

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Total variants: 6
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HGVS dbSNP
NC_000005.10:g.(?_128328686)_(128330705_?)del
NM_001999.4(FBN2):c.3725-15A>G rs587776519
NM_001999.4(FBN2):c.3986G>A (p.Cys1329Tyr)
NM_001999.4(FBN2):c.4306T>C (p.Cys1436Arg) rs1060503510
NM_001999.4(FBN2):c.4346-2A>G
NM_001999.4(FBN2):c.5917+5G>A rs1561758622

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