List of variants in gene FBN1 reported as not provided for immune system disorder

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: 8

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HGVS	dbSNP	gnomAD frequency
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His)	rs137854475	0.00168
NM_000138.5(FBN1):c.3026C>G (p.Pro1009Arg)	rs148076256	0.00002
NM_000138.5(FBN1):c.1373A>G (p.Tyr458Cys)	rs749133312	0.00001
NM_000138.5(FBN1):c.2055C>G (p.Cys685Trp)	rs140603
NM_000138.5(FBN1):c.229G>A (p.Gly77Arg)	rs794728290
NM_000138.5(FBN1):c.5018T>C (p.Ile1673Thr)	rs2043300504
NM_000138.5(FBN1):c.5485G>C (p.Gly1829Arg)	rs1597537835
NM_000138.5(FBN1):c.8014T>G (p.Cys2672Gly)	rs1555393833

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