List of variants in gene FLG reported as uncertain significance for not provided

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: 17

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_002016.2(FLG):c.1018G>C (p.Asp340His)	rs145070318	0.00055
NM_002016.2(FLG):c.1020T>A (p.Asp340Glu)	rs140261784	0.00040
NM_002016.2(FLG):c.7243C>A (p.Leu2415Ile)	rs766035407	0.00001
GRCh37/hg19 1q21.3(chr1:152203257-152318885)x1
GRCh37/hg19 1q21.3(chr1:152227976-152312326)x1
NM_002016.2(FLG):c.10287G>T (p.Glu3429Asp)
NM_002016.2(FLG):c.1293C>A (p.Asn431Lys)
NM_002016.2(FLG):c.1369C>T (p.Arg457Trp)
NM_002016.2(FLG):c.440C>T (p.Thr147Ile)
NM_002016.2(FLG):c.4960G>C (p.Gly1654Arg)	rs1652272332
NM_002016.2(FLG):c.5618A>G (p.Gln1873Arg)
NM_002016.2(FLG):c.5839_5840inv (p.Trp1947Gln)
NM_002016.2(FLG):c.5871_5872inv (p.Gly1958Arg)
NM_002016.2(FLG):c.7634G>T (p.Gly2545Val)
NM_002016.2(FLG):c.8509G>C (p.Ala2837Pro)	rs751798732
NM_002016.2(FLG):c.9395G>C (p.Ser3132Thr)
NM_002016.2(FLG):c.9433T>G (p.Ser3145Ala)	rs551170840

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.