ClinVar Miner

List of variants in gene FBN2 reported as pathogenic by GeneDx

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Gene type:
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Total variants: 7
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GRCh37/hg19 5q23.3(chr5:127744084-127866529)x1
GRCh38/hg38 5q23.3(chr5:128434801-128486349)x1
NM_001999.4(FBN2):c.3593G>A (p.Cys1198Tyr) rs863223567
NM_001999.4(FBN2):c.3724+2T>C rs863223570
NM_001999.4(FBN2):c.4222+5G>A rs1554122550
NM_001999.4(FBN2):c.525T>A (p.Cys175Ter) rs863223547
NM_001999.4(FBN2):c.6512-2A>G rs863223580

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