List of variants in gene FBN1 reported as pathogenic by Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital

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: 10

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HGVS	dbSNP	gnomAD frequency
NM_000138.5(FBN1):c.7339G>A (p.Glu2447Lys)	rs137854464	0.00001
NM_000138.5(FBN1):c.1468+5G>A	rs397515757
NM_000138.5(FBN1):c.1659del (p.His554fs)	rs1566915277
NM_000138.5(FBN1):c.2269del (p.Asp757fs)	rs1064793636
NM_000138.5(FBN1):c.3081del (p.Asp1028fs)	rs1555398774
NM_000138.5(FBN1):c.3217G>A (p.Glu1073Lys)	rs137854478
NM_000138.5(FBN1):c.3513C>G (p.Cys1171Trp)	rs775417975
NM_000138.5(FBN1):c.4088-2A>C	rs1555397671
NM_000138.5(FBN1):c.7649G>A (p.Cys2550Tyr)	rs1555394196
NM_000138.5(FBN1):c.8059_8060del (p.Val2687fs)	rs2042873946

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