List of variants in gene FBN1 reported as benign by CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario

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: 33

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HGVS	dbSNP	gnomAD frequency
NM_000138.5(FBN1):c.3464-5G>A	rs11853943	0.16287
NM_000138.5(FBN1):c.156G>T (p.Ala52=)	rs25398	0.06859
NM_000138.5(FBN1):c.5672-63G>T	rs363800	0.01987
NM_000138.5(FBN1):c.3442C>G (p.Pro1148Ala)	rs140598	0.01315
NM_000138.5(FBN1):c.3294C>T (p.Asp1098=)	rs140587	0.01051
NM_000138.5(FBN1):c.3965-8T>C	rs140637	0.00859
NM_000138.5(FBN1):c.986T>C (p.Ile329Thr)	rs12324002	0.00737
NM_000138.5(FBN1):c.5343G>A (p.Val1781=)	rs140649	0.00561
NM_000138.5(FBN1):c.2855-9C>T	rs140590	0.00556
NM_000138.5(FBN1):c.6594C>T (p.Pro2198=)	rs111844882	0.00439
NM_000138.5(FBN1):c.1746C>T (p.Cys582=)	rs112366266	0.00436
NM_000138.5(FBN1):c.4905C>G (p.Thr1635=)	rs113115949	0.00435
NM_000138.5(FBN1):c.306C>T (p.Cys102=)	rs25388	0.00372
NM_000138.5(FBN1):c.3082+8del	rs193922196	0.00359
NM_000138.5(FBN1):c.2678-15C>T	rs181681840	0.00324
NM_000138.5(FBN1):c.2055C>T (p.Cys685=)	rs140603	0.00304
NM_000138.5(FBN1):c.7497A>G (p.Leu2499=)	rs148516442	0.00268
NM_000138.5(FBN1):c.2420-8T>C	rs140582	0.00163
NM_000138.5(FBN1):c.3463+3A>G	rs80344206	0.00128
NM_000138.5(FBN1):c.6073G>T (p.Ala2025Ser)	rs113577372	0.00115
NM_000138.5(FBN1):c.4441A>G (p.Ser1481Gly)	rs61730054	0.00113
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr)	rs112287730	0.00107
NM_000138.5(FBN1):c.783T>C (p.Asn261=)	rs113721547	0.00091
NM_000138.5(FBN1):c.6987C>G (p.Asp2329Glu)	rs363831	0.00089
NM_000138.5(FBN1):c.6700G>A (p.Val2234Met)	rs112084407	0.00078
NM_000138.5(FBN1):c.510C>T (p.Tyr170=)	rs111671429	0.00076
NM_000138.5(FBN1):c.3422C>T (p.Pro1141Leu)	rs2228241	0.00054
NM_000138.5(FBN1):c.7098C>T (p.Asp2366=)	rs1005074	0.00044
NM_000138.5(FBN1):c.2175T>C (p.Asn725=)	rs140606	0.00029
NM_000138.5(FBN1):c.4443C>T (p.Ser1481=)	rs145040593	0.00026
NM_000138.5(FBN1):c.6302C>T (p.Thr2101Met)	rs200816828	0.00006
NM_000138.5(FBN1):c.3969C>T (p.Ile1323=)	rs536546914	0.00001
NM_000138.5(FBN1):c.6832C>G (p.Pro2278Ala)	rs363835

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