List of variants in gene FBN1 reported as uncertain significance by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

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.3509G>A (p.Arg1170His)	rs137854475	0.00168
NM_000138.5(FBN1):c.902G>T (p.Gly301Val)	rs142888621	0.00018
NM_000138.5(FBN1):c.3026C>G (p.Pro1009Arg)	rs148076256	0.00002
NM_000138.5(FBN1):c.6244G>C (p.Glu2082Gln)	rs1052480459	0.00001
NM_000138.5(FBN1):c.6845G>A (p.Arg2282Gln)	rs759696323	0.00001
NM_000138.5(FBN1):c.8189G>A (p.Arg2730Gln)	rs200231626	0.00001
NM_000138.5(FBN1):c.164+3A>G
NM_000138.5(FBN1):c.1964C>T (p.Thr655Ile)
NM_000138.5(FBN1):c.2419G>A (p.Asp807Asn)	rs1566911886
NM_000138.5(FBN1):c.3578T>C (p.Leu1193Pro)	rs2141293110
NM_000138.5(FBN1):c.4462G>T (p.Val1488Leu)	rs1566904712
NM_000138.5(FBN1):c.6037+9G>A
NM_000138.5(FBN1):c.6164-5T>C	rs2043085940
NM_000138.5(FBN1):c.6403G>C (p.Asp2135His)	rs746167150
NM_000138.5(FBN1):c.6957T>C (p.Asn2319=)	rs1290478839

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