ClinVar Miner

List of variants in gene NFIX reported as pathogenic by OMIM

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001365902.3(NFIX):c.1008_1012del (p.Ser337fs) rs398122871
NM_001365902.3(NFIX):c.1011_1012del (p.Gln338fs) rs398122869
NM_001365902.3(NFIX):c.1037dup (p.Thr347fs) rs398122870
NM_001365902.3(NFIX):c.1049dup (p.Leu351fs) rs398122872
NM_001365902.3(NFIX):c.1243del (p.Ala415fs) rs398122873
NM_001365902.3(NFIX):c.1456del (p.Arg486fs) rs2018058219
NM_001365902.3(NFIX):c.179T>C (p.Leu60Pro) rs387907254
NM_001365902.3(NFIX):c.362G>C (p.Arg121Pro) rs387907255
NM_001365902.3(NFIX):c.568C>T (p.Gln190Ter) rs387907253
NM_001365902.3(NFIX):c.818+561_956-804del
NM_001365902.3(NFIX):c.819-484_1079-700del
NM_001365902.3(NFIX):c.955+1G>A rs398122876
NM_001365902.3(NFIX):c.955+1G>T rs398122876
NM_001365902.3(NFIX):c.959dup (p.Ala321fs) rs398122875
NM_001365902.3(NFIX):c.994dup (p.Cys332fs) rs398122874

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.