ClinVar Miner

List of variants in gene FBN1 reported as pathogenic by Color Diagnostics, LLC DBA Color Health

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000138.5(FBN1):c.1879C>T (p.Arg627Cys) rs727503057 0.00001
NM_000138.5(FBN1):c.2920C>T (p.Arg974Cys) rs397514558 0.00001
NM_000138.5(FBN1):c.1633C>T (p.Arg545Cys) rs730880099
NM_000138.5(FBN1):c.177T>A (p.Cys59Ter) rs2044669557
NM_000138.5(FBN1):c.236dup (p.Cys80fs) rs1566938153
NM_000138.5(FBN1):c.4930C>T (p.Arg1644Ter) rs140630

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