ClinVar Miner

List of variants reported as pathogenic for Andersen-Tawil syndrome by Invitae

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
Download table as spreadsheet
HGVS dbSNP
NM_000891.2(KCNJ2):c.1102del (p.Leu368fs) rs1567823248
NM_000891.2(KCNJ2):c.199C>T (p.Arg67Trp) rs104894580
NM_000891.2(KCNJ2):c.224C>T (p.Thr75Met) rs104894585
NM_000891.2(KCNJ2):c.244C>T (p.Arg82Trp) rs199473373
NM_000891.2(KCNJ2):c.245G>A (p.Arg82Gln) rs199473653
NM_000891.2(KCNJ2):c.431G>A (p.Gly144Asp) rs199473377
NM_000891.2(KCNJ2):c.644G>A (p.Gly215Asp) rs199473383
NM_000891.2(KCNJ2):c.652C>T (p.Arg218Trp) rs104894578
NM_000891.2(KCNJ2):c.653G>A (p.Arg218Gln) rs199473384
NM_000891.2(KCNJ2):c.682C>T (p.Arg228Ter) rs1060500053
NM_000891.2(KCNJ2):c.715G>T (p.Glu239Ter) rs1555603974

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.