ClinVar Miner

List of variants in gene ASAH1 reported as pathogenic for Farber lipogranulomatosis

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP
NM_004315.5(ASAH1):c.1006A>G (p.Asn336Asp) rs137853596
NM_004315.5(ASAH1):c.155A>G (p.Tyr52Cys) rs137853595
NM_004315.5(ASAH1):c.461A>T (p.Glu154Val) rs137853594
NM_004315.5(ASAH1):c.592C>G (p.Leu198Val) rs137853597
NM_004315.5(ASAH1):c.713C>A (p.Thr238Lys) rs137853593
NM_177924.4(ASAH1):c.126-3941_382+1358del
NM_177924.4(ASAH1):c.703G>C (p.Gly235Arg) rs1554808625
NM_177924.4(ASAH1):c.917+4A>G rs397509415

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.