List of variants in gene FBN1 reported as likely pathogenic by Mendelics

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: 14

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HGVS	dbSNP	gnomAD frequency
NM_000138.5(FBN1):c.1679G>T (p.Gly560Val)	rs1555400052
NM_000138.5(FBN1):c.1754G>A (p.Gly585Glu)	rs1060501041
NM_000138.5(FBN1):c.4022A>G (p.Asn1341Ser)	rs140638
NM_000138.5(FBN1):c.4048T>C (p.Cys1350Arg)	rs397515799
NM_000138.5(FBN1):c.4048T>G (p.Cys1350Gly)	rs397515799
NM_000138.5(FBN1):c.4687T>A (p.Cys1563Ser)	rs1597548672
NM_000138.5(FBN1):c.496T>C (p.Cys166Arg)	rs363852
NM_000138.5(FBN1):c.4988G>C (p.Cys1663Ser)	rs1555396853
NM_000138.5(FBN1):c.5083T>G (p.Cys1695Gly)	rs1597545345
NM_000138.5(FBN1):c.6079G>T (p.Gly2027Cys)	rs1566897404
NM_000138.5(FBN1):c.6508T>C (p.Cys2170Arg)	rs1597523873
NM_000138.5(FBN1):c.6610T>C (p.Cys2204Arg)	rs1555395001
NM_000138.5(FBN1):c.7623C>G (p.Cys2541Trp)	rs2141221899
NM_000138.5(FBN1):c.8596dup (p.Ile2866fs)	rs1597506547

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