List of variants in gene FBN1 reported by Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000138.5(FBN1):c.3082+6A>G	rs79321504	0.01406
NM_000138.5(FBN1):c.3294C>T (p.Asp1098=)	rs140587	0.01051
NM_000138.5(FBN1):c.5343G>A (p.Val1781=)	rs140649	0.00561
NM_000138.5(FBN1):c.2055C>T (p.Cys685=)	rs140603	0.00304
NM_000138.5(FBN1):c.1786T>G (p.Cys596Gly)	rs1057520131
NM_000138.5(FBN1):c.2964_2971del (p.Trp988_Glu991delinsTer)	rs878853095
NM_000138.5(FBN1):c.3563C>A (p.Ser1188Ter)	rs1057520181
NM_000138.5(FBN1):c.6832C>T (p.Pro2278Ser)	rs363835
NM_000138.5(FBN1):c.8520_8523del (p.Lys2840fs)	rs1555393513

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