ClinVar Miner

List of variants reported for Chédiak-Higashi syndrome by Genome Diagnostics Laboratory, University Medical Center Utrecht

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000081.4(LYST):c.10941-7C>A rs72761794 0.00614
NM_000081.4(LYST):c.5518T>G (p.Ser1840Ala) rs115330112 0.00485
NM_000081.4(LYST):c.10800+4G>T rs41308172 0.00441
NM_000081.4(LYST):c.7506A>G (p.Gln2502=) rs140434436 0.00106
NM_000081.4(LYST):c.3507C>T (p.Leu1169=) rs74861744 0.00083
NM_000081.4(LYST):c.2363+10dup rs760632806 0.00058
NM_000081.4(LYST):c.11268-5del rs36014994
NM_000081.4(LYST):c.8980G>A (p.Glu2994Lys)

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.