ClinVar Miner

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

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Total variants: 8
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HGVS dbSNP
NM_001999.4(FBN2):c.1339AATGGC[3] (p.447NG[3]) rs863223593
NM_001999.4(FBN2):c.3456G>A (p.Met1152Ile) rs863223565
NM_001999.4(FBN2):c.3566A>C (p.His1189Pro) rs863223566
NM_001999.4(FBN2):c.3725-2del rs1554122858
NM_001999.4(FBN2):c.3847+1G>T rs863223604
NM_001999.4(FBN2):c.4249C>T (p.His1417Tyr) rs863223572
NM_001999.4(FBN2):c.4550G>A (p.Cys1517Tyr) rs1057521951
NM_001999.4(FBN2):c.4594G>A (p.Asp1532Asn) rs863223574

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