List of variants in gene FBN1 reported as pathogenic by Institute of Human Genetics, University of Leipzig Medical Center

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000138.5(FBN1):c.1546C>T (p.Arg516Ter)	rs113812345
NM_000138.5(FBN1):c.3302A>G (p.Tyr1101Cys)	rs1555398625
NM_000138.5(FBN1):c.3539G>A (p.Cys1180Tyr)	rs1555398513
NM_000138.5(FBN1):c.4120T>G (p.Cys1374Gly)	rs2141279837
NM_000138.5(FBN1):c.5885dup (p.Tyr1962Ter)
NM_000138.5(FBN1):c.6431A>G (p.Asn2144Ser)	rs137854461

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