ClinVar Miner

List of variants in gene DOLK reported as pathogenic for autosomal ichthyosis syndrome

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
Download table as spreadsheet
NM_014908.3(DOLK):c.1222C>G (p.His408Asp) rs387907030
NM_014908.3(DOLK):c.1322A>C (p.Tyr441Ser) rs137853110
NM_014908.3(DOLK):c.295T>A (p.Cys99Ser) rs137853109
NM_014908.3(DOLK):c.2T>C (p.Met1Thr) rs587777137
NM_014908.3(DOLK):c.3G>A (p.Met1Ile) rs1564546510
NM_014908.3(DOLK):c.912G>T (p.Trp304Cys) rs1564545929

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.