ClinVar Miner

List of variants in gene KCNH2 reported as likely benign by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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_000238.4(KCNH2):c.542G>A (p.Arg181Gln) rs41308954 0.00317
NM_000238.4(KCNH2):c.1129-18C>T rs78794789 0.00156
NM_000238.4(KCNH2):c.1581G>A (p.Ala527=) rs150275982 0.00096
NM_000238.4(KCNH2):c.51C>G (p.Thr17=) rs144338227 0.00083
NM_000238.4(KCNH2):c.2454G>A (p.Ser818=) rs72549418 0.00029
NM_000238.4(KCNH2):c.1471G>A (p.Val491Ile) rs374376640 0.00004
NM_000238.4(KCNH2):c.76+18C>T rs749396597 0.00002
NM_000238.4(KCNH2):c.473-5C>T rs1181633993 0.00001
NM_000238.4(KCNH2):c.2398+105del rs546898924
NM_000238.4(KCNH2):c.551GCGCGGGCG[1] (p.184GAG[1]) rs551056698
NM_000238.4(KCNH2):c.77-5C>G rs72549419

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.