ClinVar Miner

List of variants reported as likely pathogenic for Ichthyosis vulgaris by Genome-Nilou Lab

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002016.2(FLG):c.9947C>G (p.Ser3316Ter) rs149484917 0.00246
NM_002016.2(FLG):c.9740C>A (p.Ser3247Ter) rs150597413 0.00144
NM_002016.2(FLG):c.94G>T (p.Glu32Ter) rs114733570 0.00021
NM_002016.2(FLG):c.7031C>G (p.Ser2344Ter) rs372754256 0.00015
NM_002016.2(FLG):c.2362C>T (p.Arg788Ter) rs183942200 0.00012
NM_002016.2(FLG):c.7487del (p.Thr2496fs) rs774362740 0.00005
NM_002016.2(FLG):c.2218C>T (p.Arg740Ter) rs777181377 0.00004
NM_002016.2(FLG):c.10225C>T (p.Arg3409Ter) rs201356558 0.00003
NM_002016.2(FLG):c.138+1G>C rs756254959 0.00003
NM_002016.2(FLG):c.7661C>G (p.Ser2554Ter) rs121909626 0.00003
NM_002016.2(FLG):c.4808_4812dup (p.Glu1605fs) rs775716153 0.00001
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter) rs61816761
NM_002016.2(FLG):c.1714C>T (p.Arg572Ter) rs200601767
NM_002016.2(FLG):c.4785_4788del (p.Ser1595fs) rs761519693
NM_002016.2(FLG):c.6950_6957del (p.Ala2316_Ser2317insTer) rs578184315
NM_002016.2(FLG):c.7339C>T (p.Arg2447Ter) rs138726443
NM_002016.2(FLG):c.7945del (p.Ser2649fs) rs538406713

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.