ClinVar Miner

List of variants in gene KCNQ1 studied for Jervell and Lange-Nielsen syndrome 1

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
Download table as spreadsheet
NM_000218.2(KCNQ1):c.1149dup (p.Ala384fs) rs397508079
NM_000218.2(KCNQ1):c.115G>T (p.Glu39Ter) rs1554958045
NM_000218.2(KCNQ1):c.1189del (p.Arg397fs) rs397508081
NM_000218.2(KCNQ1):c.1534del (p.Ala512fs) rs1554919471
NM_000218.2(KCNQ1):c.1630_1635delCAGTACinsGTTGAGA (p.Gln544Valfs) rs397515637
NM_000218.2(KCNQ1):c.1686-1G>A rs397508098
NM_000218.2(KCNQ1):c.1732+5delG rs1554920833
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.573_577del (p.Arg192fs) rs397508118
NM_000218.2(KCNQ1):c.733_734del (p.Gly245fs) rs1554893092
NM_000218.2(KCNQ1):c.743_744delinsTC (p.Trp248Phe) rs397508123
NM_000218.2(KCNQ1):c.914G>C (p.Trp305Ser) rs120074186

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.