ClinVar Miner

List of variants in gene KCNQ1 reported as uncertain significance for Jervell and Lange-Nielsen syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
Download table as spreadsheet
HGVS dbSNP
NM_000218.2(KCNQ1):c.29C>A (p.Ala10Asp) rs886048161
NM_000218.2(KCNQ1):c.66C>T (p.Gly22=) rs886048162
NM_181798.1(KCNQ1):c.*160C>A rs886048167
NM_181798.1(KCNQ1):c.*26C>A rs886048166
NM_181798.1(KCNQ1):c.*292C>A rs886048169
NM_181798.1(KCNQ1):c.*398C>T rs886048170
NM_181798.1(KCNQ1):c.*554T>G rs886048172
NM_181798.1(KCNQ1):c.*887_*889del rs886048175
NM_181798.1(KCNQ1):c.*897G>T rs561861522
NM_181798.1(KCNQ1):c.1592C>A (p.Thr531Asn) rs377661455
NM_181798.1(KCNQ1):c.1598C>A (p.Pro533His) rs886048165
NM_181798.1(KCNQ1):c.269C>T (p.Ser90Phe) rs886048163
NM_181798.1(KCNQ1):c.400-6G>T rs886048164
NM_181798.1(KCNQ1):c.808C>T (p.Arg270Trp) rs199472776
NM_181798.1(KCNQ1):c.870+13C>T rs201364493
NM_181798.1(KCNQ1):c.974G>A (p.Arg325Gln) rs145229963

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.