List of variants in gene FBN1 reported as pathogenic by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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: 15

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HGVS	dbSNP	gnomAD frequency
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr)	rs727503054	0.00002
NM_000138.5(FBN1):c.5788+5G>A	rs193922219	0.00001
NM_000138.5(FBN1):c.2111C>G (p.Ser704Ter)	rs2043683891
NM_000138.5(FBN1):c.3083-2A>G	rs2043529474
NM_000138.5(FBN1):c.3222C>A (p.Cys1074Ter)	rs2043525934
NM_000138.5(FBN1):c.364C>T (p.Arg122Cys)	rs137854467
NM_000138.5(FBN1):c.3757_3760del (p.Gln1253fs)	rs2043485390
NM_000138.5(FBN1):c.3856del (p.Asp1285_Leu1286insTer)	rs1555398170
NM_000138.5(FBN1):c.4388A>G (p.Asn1463Ser)	rs1555397413
NM_000138.5(FBN1):c.5183C>T (p.Ala1728Val)	rs1131691804
NM_000138.5(FBN1):c.526dup (p.Gln176fs)	rs2044514951
NM_000138.5(FBN1):c.5416del (p.Cys1806fs)	rs1057518912
NM_000138.5(FBN1):c.643C>T (p.Arg215Ter)	rs111687884
NM_000138.5(FBN1):c.6800A>T (p.Asn2267Ile)	rs1057518812
NM_000138.5(FBN1):c.840_843del (p.Asn280fs)	rs1057518909

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