List of variants in gene FBN2 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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: 49

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HGVS	dbSNP	gnomAD frequency
NM_001999.4(FBN2):c.976C>T (p.Pro326Ser)	rs28763954	0.00654
NM_001999.4(FBN2):c.5496C>T (p.Arg1832=)	rs35346129	0.00388
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.738G>A (p.Ala246=)	rs150087436	0.00200
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.1592G>C (p.Gly531Ala)	rs34450503	0.00117
NM_001999.4(FBN2):c.4791C>T (p.Ile1597=)	rs147040906	0.00115
NM_001999.4(FBN2):c.3351C>T (p.Asp1117=)	rs78484531	0.00102
NM_001999.4(FBN2):c.5674+7A>G	rs367877964	0.00049
NM_001999.4(FBN2):c.7380C>T (p.Cys2460=)	rs147102633	0.00046
NM_001999.4(FBN2):c.7012+7G>A	rs199735209	0.00042
NM_001999.4(FBN2):c.4246A>G (p.Thr1416Ala)	rs200837433	0.00040
NM_001999.4(FBN2):c.5031C>T (p.Cys1677=)	rs147452231	0.00035
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.297T>C (p.Pro99=)	rs79375977	0.00024
NM_001999.4(FBN2):c.8049G>A (p.Gly2683=)	rs138044126	0.00020
NM_001999.4(FBN2):c.1466-4G>A	rs371636769	0.00017
NM_001999.4(FBN2):c.2801G>A (p.Arg934Gln)	rs376194507	0.00014
NM_001999.4(FBN2):c.8376C>G (p.Ile2792Met)	rs142747169	0.00009
NM_001999.4(FBN2):c.5637C>T (p.Ala1879=)	rs367620361	0.00008
NM_001999.4(FBN2):c.6982G>T (p.Ala2328Ser)	rs199910288	0.00006
NM_001999.4(FBN2):c.8520C>T (p.Asn2840=)	rs139098335	0.00006
NM_001999.4(FBN2):c.1968T>C (p.Cys656=)	rs750685055	0.00004
NM_001999.4(FBN2):c.2555-6T>C	rs376507178	0.00004
NM_001999.4(FBN2):c.3404C>T (p.Pro1135Leu)	rs772041342	0.00002
NM_001999.4(FBN2):c.4779C>T (p.Cys1593=)	rs780191346	0.00002
NM_001999.4(FBN2):c.2283T>C (p.Gly761=)	rs1235214641	0.00001
NM_001999.4(FBN2):c.2487G>T (p.Thr829=)	rs779455710	0.00001
NM_001999.4(FBN2):c.3420C>T (p.Cys1140=)	rs756541654	0.00001
NM_001999.4(FBN2):c.4690T>C (p.Leu1564=)	rs886038504	0.00001
NM_001999.4(FBN2):c.5303T>C (p.Val1768Ala)	rs779202876	0.00001
NM_001999.4(FBN2):c.533-4G>T	rs372596001	0.00001
NM_001999.4(FBN2):c.6438C>T (p.Asp2146=)	rs772832233	0.00001
NM_001999.4(FBN2):c.7767A>G (p.Gln2589=)	rs777828326	0.00001
NM_001999.4(FBN2):c.2199A>G (p.Pro733=)	rs1751863542
NM_001999.4(FBN2):c.21G>A (p.Leu7=)	rs1002853093
NM_001999.4(FBN2):c.2249-7C>A
NM_001999.4(FBN2):c.2376T>C (p.Arg792=)
NM_001999.4(FBN2):c.2457G>A (p.Leu819=)	rs370465689
NM_001999.4(FBN2):c.5118G>A (p.Gly1706=)	rs1284156837
NM_001999.4(FBN2):c.518C>T (p.Thr173Ile)	rs147157552
NM_001999.4(FBN2):c.6291T>G (p.Phe2097Leu)	rs898218975
NM_001999.4(FBN2):c.7173G>A (p.Leu2391=)	rs1463009225
NM_001999.4(FBN2):c.8082C>A (p.His2694Gln)	rs142755118
NM_001999.4(FBN2):c.8536C>T (p.Arg2846Cys)

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