ClinVar Miner

List of variants in gene KCNH2 reported as likely pathogenic by Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
Download table as spreadsheet
NM_000238.4(KCNH2):c.1052C>T (p.Ser351Leu)
NM_000238.4(KCNH2):c.146G>T (p.Cys49Phe)
NM_172056.2(KCNH2):c.1238T>G (p.Leu413Arg) rs199472893
NM_172056.2(KCNH2):c.139G>T (p.Gly47Cys) rs794728409
NM_172056.2(KCNH2):c.1525G>A (p.Asp509Asn) rs370637245
NM_172056.2(KCNH2):c.1910_1912AGA[1] (p.Lys638del) rs794728442
NM_172056.2(KCNH2):c.2053C>T (p.Arg685Cys) rs778135438
NM_172056.2(KCNH2):c.92T>A (p.Ile31Asn) rs199472833

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.