ClinVar Miner

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

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
Download table as spreadsheet
NM_000218.2(KCNQ1):c.1630_1635delCAGTACinsGTTGAGA (p.Gln544Valfs) rs397515637
NM_000218.2(KCNQ1):c.1760C>T (p.Thr587Met) rs120074189
NM_000218.2(KCNQ1):c.1766G>A (p.Gly589Asp) rs120074190
NM_000218.2(KCNQ1):c.1892_1911del (p.Pro631fs) rs397508103
NM_000218.2(KCNQ1):c.451_452del (p.Leu151fs) rs397508110
NM_000218.2(KCNQ1):c.567dup (p.Arg190fs) rs397508117
NM_000218.2(KCNQ1):c.914G>C (p.Trp305Ser) rs120074186
NM_000219.4:c.[172A>C;176T>C] rs281865421
NM_000219.6(KCNE1):c.20C>T (p.Thr7Ile) rs28933384
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.