ClinVar Miner

List of variants in gene FBN2 reported as likely pathogenic by Invitae

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Total variants: 14
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HGVS dbSNP
NC_000005.10:g.(?_128300797)_(128303109_?)del
NC_000005.10:g.(?_128318149)_(128319001_?)del
NC_000005.9:g.(?_127653831)_(127654703_?)del
NM_001999.4(FBN2):c.2384G>A (p.Cys795Tyr)
NM_001999.4(FBN2):c.3259G>C (p.Gly1087Arg) rs1581230766
NM_001999.4(FBN2):c.3467G>T (p.Cys1156Phe) rs1206843725
NM_001999.4(FBN2):c.3472+1G>A rs1554123136
NM_001999.4(FBN2):c.3484T>C (p.Cys1162Arg)
NM_001999.4(FBN2):c.3769T>G (p.Cys1257Gly)
NM_001999.4(FBN2):c.3967T>G (p.Cys1323Gly) rs1581223990
NM_001999.4(FBN2):c.4222+1G>A rs1060503498
NM_001999.4(FBN2):c.4285C>A (p.Pro1429Thr) rs1060503511
NM_001999.4(FBN2):c.6028G>C (p.Asp2010His)
NM_001999.4(FBN2):c.6122G>A (p.Cys2041Tyr)

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