List of variants in gene combination FBN1, LOC113939944 reported as uncertain significance by Color Diagnostics, LLC DBA Color Health

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

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000138.5(FBN1):c.1027G>A (p.Gly343Arg)	rs146726731	0.00021
NM_000138.5(FBN1):c.1087G>A (p.Gly363Ser)	rs363855	0.00004
NM_000138.5(FBN1):c.1030C>T (p.Arg344Cys)	rs752010116	0.00001
NM_000138.5(FBN1):c.1031G>A (p.Arg344His)	rs200388305	0.00001
NM_000138.5(FBN1):c.1108G>T (p.Val370Phe)	rs1191931914	0.00001
NM_000138.5(FBN1):c.1117G>A (p.Ala373Thr)	rs766162654	0.00001
NM_000138.5(FBN1):c.1118C>T (p.Ala373Val)	rs762598979	0.00001
NM_000138.5(FBN1):c.1057A>T (p.Ile353Leu)	rs750653834
NM_000138.5(FBN1):c.1082A>T (p.Asp361Val)	rs2043845991
NM_000138.5(FBN1):c.1090C>G (p.Arg364Gly)	rs794728165
NM_000138.5(FBN1):c.1114G>C (p.Val372Leu)	rs2141336011
NM_000138.5(FBN1):c.1145C>G (p.Thr382Ser)	rs2043844619
NM_000138.5(FBN1):c.1147+4A>G	rs2043844451
NM_000138.5(FBN1):c.989-6C>A
NM_000138.5(FBN1):c.989A>T (p.Asp330Val)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.