List of variants in gene FBN2 reported as likely benign by Genome Diagnostics Laboratory, University Medical Center Utrecht

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: 22

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HGVS	dbSNP	gnomAD frequency
NM_001999.4(FBN2):c.4312G>A (p.Glu1438Lys)	rs56168072	0.00832
NM_001999.4(FBN2):c.1040G>A (p.Arg347His)	rs112428886	0.00427
NM_001999.4(FBN2):c.6511+5G>A	rs200608284	0.00363
NM_001999.4(FBN2):c.4141C>A (p.His1381Asn)	rs78727187	0.00327
NM_001999.4(FBN2):c.7181T>C (p.Ile2394Thr)	rs28763926	0.00287
NM_001999.4(FBN2):c.829G>A (p.Val277Ile)	rs146849637	0.00210
NM_001999.4(FBN2):c.953-8T>G	rs201818403	0.00152
NM_001999.4(FBN2):c.2260G>A (p.Gly754Ser)	rs145259927	0.00137
NM_001999.4(FBN2):c.2555-7A>G	rs28763949	0.00137
NM_001999.4(FBN2):c.8304C>T (p.Asn2768=)	rs28763920	0.00120
NM_001999.4(FBN2):c.2427T>A (p.Ile809=)	rs139686090	0.00081
NM_001999.4(FBN2):c.6841A>T (p.Ile2281Phe)	rs115223340	0.00047
NM_001999.4(FBN2):c.7012+7G>A	rs199735209	0.00042
NM_001999.4(FBN2):c.8257G>A (p.Glu2753Lys)	rs146781484	0.00042
NM_001999.4(FBN2):c.6666G>A (p.Pro2222=)	rs192923239	0.00034
NM_001999.4(FBN2):c.4983C>T (p.Cys1661=)	rs143907156	0.00033
NM_001999.4(FBN2):c.1850-9C>T	rs199937209	0.00026
NM_001999.4(FBN2):c.2625T>C (p.Cys875=)	rs371502563	0.00012
NM_001999.4(FBN2):c.3609A>G (p.Glu1203=)	rs941219425	0.00001
NM_001999.4(FBN2):c.4472-12del	rs758812755
NM_001999.4(FBN2):c.6948C>T (p.Ile2316=)	rs17608368
NM_001999.4(FBN2):c.8082C>A (p.His2694Gln)	rs142755118

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