ClinVar Miner

List of variants reported as likely pathogenic for Jervell-Lange Nielsen syndrome

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
Download table as spreadsheet
NM_000218.2(KCNQ1):c.1747C>T (p.Arg583Cys) rs17221854
NM_000218.2(KCNQ1):c.403del (p.Val135fs) rs794728565
NM_000218.2(KCNQ1):c.488del (p.Leu163fs) rs397508112
NM_000218.2(KCNQ1):c.585del (p.Lys196fs) rs397508120
NM_000218.2(KCNQ1):c.826del (p.Ser276fs) rs786204778
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) rs74315445

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.