ClinVar Miner

List of variants in gene ABHD5, ANO10 studied for autosomal ichthyosis syndrome

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
Download table as spreadsheet
HGVS dbSNP
NM_001365650.1(ABHD5):c.-114A>G rs74845403
NM_001365650.1(ABHD5):c.-64G>A rs564192984
NM_001365650.1(ABHD5):c.-65G>C rs186175534
NM_001365650.1(ABHD5):c.-68C>G rs561357404
NM_001365650.1(ABHD5):c.-91C>G rs886058487
NM_001365650.1(ABHD5):c.-98C>A rs886058486
NM_016006.6(ABHD5):c.-19C>T rs117630969
NM_016006.6(ABHD5):c.-24C>T rs189850893
NM_016006.6(ABHD5):c.-30A>G rs367627114
NM_016006.6(ABHD5):c.-48C>T
NM_016006.6(ABHD5):c.11A>C (p.Glu4Ala)
NM_016006.6(ABHD5):c.12G>A (p.Glu4=) rs141365045
NM_016006.6(ABHD5):c.19G>A (p.Glu7Lys) rs104893676
NM_016006.6(ABHD5):c.26A>G (p.Asp9Gly) rs144420157
NM_016006.6(ABHD5):c.39C>T (p.Thr13=) rs140969259
NM_016006.6(ABHD5):c.43G>A (p.Glu15Lys)
NM_016006.6(ABHD5):c.46_47del (p.Arg16fs) rs387906336

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.