ClinVar Miner

List of variants in gene FBN2 reported as uncertain significance for Congenital contractural arachnodactyly; Macular degeneration, early-onset

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Total variants: 15
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HGVS dbSNP
NM_001999.4(FBN2):c.1720A>G (p.Ile574Val) rs768073096
NM_001999.4(FBN2):c.1799_1800delinsTT (p.Cys600Phe) rs1581251031
NM_001999.4(FBN2):c.2252A>C (p.Glu751Ala) rs147610681
NM_001999.4(FBN2):c.2536G>A (p.Glu846Lys) rs375666281
NM_001999.4(FBN2):c.2557A>C (p.Ile853Leu) rs148598779
NM_001999.4(FBN2):c.3394G>A (p.Val1132Ile) rs138834515
NM_001999.4(FBN2):c.3481G>A (p.Glu1161Lys) rs1554123065
NM_001999.4(FBN2):c.3495C>A (p.Asn1165Lys) rs774250442
NM_001999.4(FBN2):c.3584G>A (p.Arg1195His) rs751600209
NM_001999.4(FBN2):c.5855T>C (p.Val1952Ala) rs372879535
NM_001999.4(FBN2):c.6077C>T (p.Ser2026Phe) rs139668142
NM_001999.4(FBN2):c.6511+5G>A rs200608284
NM_001999.4(FBN2):c.8376C>G (p.Ile2792Met) rs142747169
NM_001999.4(FBN2):c.8444A>C (p.Lys2815Thr) rs757028268
NM_001999.4(FBN2):c.8547A>G (p.Gln2849=) rs1561733846

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