List of variants in gene FBN2 reported as likely benign by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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: 44

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HGVS	dbSNP	gnomAD frequency
NM_001999.4(FBN2):c.4141C>A (p.His1381Asn)	rs78727187	0.00327
NM_001999.4(FBN2):c.7471+6G>A	rs200998513	0.00205
NM_001999.4(FBN2):c.2940C>T (p.Cys980=)	rs143255082	0.00158
NM_001999.4(FBN2):c.1592G>C (p.Gly531Ala)	rs34450503	0.00117
NM_001999.4(FBN2):c.5353+10C>T	rs113589974	0.00110
NM_001999.4(FBN2):c.6655A>G (p.Ile2219Val)	rs140821039	0.00102
NM_001999.4(FBN2):c.3767A>G (p.Gln1256Arg)	rs139052603	0.00100
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.209T>C (p.Val70Ala)	rs144149249	0.00039
NM_001999.4(FBN2):c.5031C>T (p.Cys1677=)	rs147452231	0.00035
NM_001999.4(FBN2):c.339G>A (p.Pro113=)	rs144540627	0.00032
NM_001999.4(FBN2):c.4454A>G (p.Asp1485Gly)	rs199665922	0.00029
NM_001999.4(FBN2):c.2249-19A>G	rs193091226	0.00026
NM_001999.4(FBN2):c.7013-7T>A	rs191729449	0.00022
NM_001999.4(FBN2):c.6253C>G (p.Pro2085Ala)	rs34845843	0.00018
NM_001999.4(FBN2):c.4902C>T (p.Pro1634=)	rs201071253	0.00013
NM_001999.4(FBN2):c.195G>A (p.Glu65=)	rs750055830	0.00003
NM_001999.4(FBN2):c.3279C>T (p.Ile1093=)	rs142809999	0.00003
NM_001999.4(FBN2):c.5814C>T (p.Cys1938=)	rs753556200	0.00003
NM_001999.4(FBN2):c.1194C>T (p.Ile398=)	rs766004910	0.00002
NM_001999.4(FBN2):c.4779C>T (p.Cys1593=)	rs780191346	0.00002
NM_001999.4(FBN2):c.533-6A>G	rs56400997	0.00002
NM_001999.4(FBN2):c.1431G>A (p.Gly477=)	rs759633050	0.00001
NM_001999.4(FBN2):c.1604-5C>T	rs530806742	0.00001
NM_001999.4(FBN2):c.2042G>A (p.Arg681His)	rs548605398	0.00001
NM_001999.4(FBN2):c.2428+9T>C	rs368374358	0.00001
NM_001999.4(FBN2):c.2554+18C>T	rs778973357	0.00001
NM_001999.4(FBN2):c.4134C>T (p.Cys1378=)	rs775405425	0.00001
NM_001999.4(FBN2):c.5354-14T>C	rs756825167	0.00001
NM_001999.4(FBN2):c.573C>T (p.Ile191=)	rs370698125	0.00001
NM_001999.4(FBN2):c.7308A>T (p.Ile2436=)	rs1005611432	0.00001
NM_001999.4(FBN2):c.1078+18A>C
NM_001999.4(FBN2):c.1263T>G (p.Leu421=)
NM_001999.4(FBN2):c.1543T>A (p.Ser515Thr)	rs528255772
NM_001999.4(FBN2):c.1945T>C (p.Leu649=)
NM_001999.4(FBN2):c.4472-12del	rs758812755
NM_001999.4(FBN2):c.4472-18T>A	rs200285828
NM_001999.4(FBN2):c.518C>T (p.Thr173Ile)	rs147157552
NM_001999.4(FBN2):c.5200+15C>T	rs1749988266
NM_001999.4(FBN2):c.5354-4A>G	rs2126840686
NM_001999.4(FBN2):c.7594+10G>A	rs1437523141
NM_001999.4(FBN2):c.7A>C (p.Arg3=)	rs1466844222

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