ClinVar Miner

List of variants in gene FBN2 reported as likely pathogenic by Ambry Genetics

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Gene type:
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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001999.4(FBN2):c.3466T>C (p.Cys1156Arg) rs1750917259
NM_001999.4(FBN2):c.3486T>G (p.Cys1162Trp) rs1554123064
NM_001999.4(FBN2):c.3719G>A (p.Cys1240Tyr) rs1554122896
NM_001999.4(FBN2):c.3724+1G>A
NM_001999.4(FBN2):c.3724+2T>G
NM_001999.4(FBN2):c.4340G>T (p.Cys1447Phe)
NM_001999.4(FBN2):c.4346-2A>C
NM_001999.4(FBN2):c.523T>C (p.Cys175Arg) rs886038942
NM_001999.4(FBN2):c.539G>A (p.Cys180Tyr) rs1554075372
NM_001999.4(FBN2):c.6638-2A>C rs886039200

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