List of variants in gene ALOX12B reported as uncertain significance for Congenital ichthyosiform erythroderma

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: 6

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001139.3(ALOX12B):c.1276-13G>C	rs370659573	0.00003
NM_001139.3(ALOX12B):c.1541C>T (p.Thr514Met)	rs766621071	0.00002
NM_001139.3(ALOX12B):c.*118dup	rs558690816
NM_001139.3(ALOX12B):c.-157C>T	rs886053575
NM_001139.3(ALOX12B):c.1004A>G (p.His335Arg)	rs886053565
NM_001139.3(ALOX12B):c.46_48del (p.Ser16del)	rs886053573

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.