ClinVar Miner

List of variants in gene SLF2 reported as pathogenic for chromosomal disorder

Included ClinVar conditions (212):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_018121.4(SLF2):c.568C>T (p.Arg190Ter) rs1212696529 0.00001
NM_018121.4(SLF2):c.1006dup (p.Arg336fs) rs2493361251
NM_018121.4(SLF2):c.2347_2348del (p.Asp783fs) rs2493386649
NM_018121.4(SLF2):c.2582A>T (p.Asn861Ile) rs1266675910
NM_018121.4(SLF2):c.2719dup (p.Ser907fs) rs2493419778

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.