ClinVar Miner

List of variants in gene KCNQ1 reported by ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP
NM_000218.2(KCNQ1):c.1179G>T (p.Lys393Asn) rs12720457
NM_000218.2(KCNQ1):c.1343C>G (p.Pro448Arg) rs12720449
NM_000218.2(KCNQ1):c.1552C>T (p.Arg518Ter) rs17215500
NM_000218.2(KCNQ1):c.1851C>T (p.Leu617=) rs962199389
NM_000218.2(KCNQ1):c.1986C>T (p.Tyr662=) rs11601907
NM_000218.2(KCNQ1):c.477+5G>A rs397508111
NM_000218.2(KCNQ1):c.590C>T (p.Pro197Leu) rs200108320
NM_000218.2(KCNQ1):c.642C>A (p.Cys214Ter) rs775479779
NM_000218.2(KCNQ1):c.720C>T (p.His240=) rs28730754
NM_000218.2(KCNQ1):c.806G>A (p.Gly269Asp) rs120074194

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.