ClinVar Miner

List of variants in gene FBN1 reported as likely pathogenic by Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili

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: 2

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HGVS	dbSNP	gnomAD frequency
NM_000138.5(FBN1):c.287G>C (p.Arg96Thr)	rs794728291	0.00001
NM_000138.5(FBN1):c.7699+5G>A	rs1555394187

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