ClinVar Miner

List of variants in gene FBN2 reported by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001999.4(FBN2):c.6982G>T (p.Ala2328Ser) rs199910288 0.00006
NM_001999.4(FBN2):c.3709C>T (p.Arg1237Cys) rs746570981 0.00003
NM_001999.4(FBN2):c.2200G>C (p.Asp734His) rs1751863483
NM_001999.4(FBN2):c.3592T>C (p.Cys1198Arg) rs1750891403
NM_001999.4(FBN2):c.4055G>C (p.Cys1352Ser) rs1750790929
NM_001999.4(FBN2):c.4712G>C (p.Cys1571Ser) rs1750262781
NM_001999.4(FBN2):c.7663A>G (p.Thr2555Ala) rs1765343397

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