List of variants in gene FBN1 reported as likely pathogenic by Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute

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.1904A>G (p.Tyr635Cys)	rs1555399816
NM_000138.5(FBN1):c.2080G>T (p.Glu694Ter)	rs1060501024
NM_000138.5(FBN1):c.2114-2A>G	rs886041440
NM_000138.5(FBN1):c.2147G>A (p.Gly716Glu)	rs794728185
NM_000138.5(FBN1):c.2419+1G>A	rs1555399257
NM_000138.5(FBN1):c.2645C>T (p.Ala882Val)	rs794728195
NM_000138.5(FBN1):c.2696G>A (p.Gly899Glu)	rs1555399094
NM_000138.5(FBN1):c.2920dup (p.Arg974fs)	rs1555398825
NM_000138.5(FBN1):c.4192G>A (p.Asp1398Asn)	rs1597553721
NM_000138.5(FBN1):c.4629del (p.Asp1543fs)	rs2043337738
NM_000138.5(FBN1):c.4649del (p.Ser1550fs)	rs1597548716
NM_000138.5(FBN1):c.5016T>G (p.Cys1672Trp)	rs1555396848
NM_000138.5(FBN1):c.5073AAG[1] (p.Arg1692del)	rs1555396789
NM_000138.5(FBN1):c.8530C>T (p.Gln2844Ter)	rs1555393510

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