ClinVar Miner

List of variants in gene KCNQ1, KCNQ1OT1 studied for Jervell and Lange-Nielsen syndrome 1

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000218.3(KCNQ1):c.1455C>T (p.Phe485=) rs17215465 0.01545
NM_000218.3(KCNQ1):c.1394-14C>T rs28730758 0.01027
NM_000218.3(KCNQ1):c.1431C>T (p.Pro477=) rs137887424 0.00050
NM_000218.3(KCNQ1):c.1476A>G (p.Glu492=) rs370676650 0.00011
NM_000218.3(KCNQ1):c.1458C>T (p.Ala486=) rs200275211 0.00009
NM_000218.3(KCNQ1):c.1456G>A (p.Ala486Thr) rs753256800 0.00004
NM_000218.3(KCNQ1):c.1501A>G (p.Thr501Ala) rs749196110 0.00001
NM_000218.3(KCNQ1):c.1514+9C>T rs770840921 0.00001
NM_000218.3(KCNQ1):c.1394-13A>G rs747187696
NM_000218.3(KCNQ1):c.1394-8C>T rs371488379
NM_000218.3(KCNQ1):c.1426_1429del (p.Met476fs) rs1554903804

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.