ClinVar Miner

List of variants reported as benign for Andersen-Tawil syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
Download table as spreadsheet
NM_000891.2(KCNJ2):c.*1069C>T rs45603434
NM_000891.2(KCNJ2):c.*1198A>G rs9895478
NM_000891.2(KCNJ2):c.*1251C>T rs9894661
NM_000891.2(KCNJ2):c.*1267A>G rs236514
NM_000891.2(KCNJ2):c.*136G>A rs73998781
NM_000891.2(KCNJ2):c.*1678dup rs145779709
NM_000891.2(KCNJ2):c.*558C>T rs9302914
NM_000891.2(KCNJ2):c.*624G>A rs9302915
NM_000891.2(KCNJ2):c.*646_*648dupGTT rs397705636
NM_000891.2(KCNJ2):c.*832G>A rs10083831
NM_000891.2(KCNJ2):c.1035C>T (p.His345=) rs201747514
NM_000891.2(KCNJ2):c.1044C>T (p.Tyr348=) rs146330042
NM_000891.2(KCNJ2):c.1146C>T (p.Leu382=) rs173135
NM_000891.2(KCNJ2):c.372C>T (p.Ser124=) rs138877244
NM_000891.2(KCNJ2):c.531C>T (p.Gly177=) rs544384907
NM_000891.2(KCNJ2):c.660C>T (p.Ser220=) rs7221086
NM_000891.2(KCNJ2):c.96C>T (p.Asn32=) rs67120636

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.