ClinVar Miner

List of variants in gene FBN2 reported by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

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Gene type:
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Total variants: 11
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NM_001999.4(FBN2):c.1799_1800delinsTT (p.Cys600Phe) rs1581251031
NM_001999.4(FBN2):c.2536G>A (p.Glu846Lys) rs375666281
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.3514G>T (p.Gly1172Cys) rs138303817
NM_001999.4(FBN2):c.3584G>A (p.Arg1195His) rs751600209
NM_001999.4(FBN2):c.5494C>T (p.Arg1832Cys) rs778519094
NM_001999.4(FBN2):c.5855T>C (p.Val1952Ala) rs372879535
NM_001999.4(FBN2):c.6511+5G>A rs200608284
NM_001999.4(FBN2):c.8547A>G (p.Gln2849=) rs1561733846

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