ClinVar Miner

List of variants reported as pathogenic for Temple-Baraitser syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_172362.3(KCNH1):c.1069C>T (p.Arg357Trp) rs2102561827
NM_172362.3(KCNH1):c.1070G>A (p.Arg357Gln) rs886041300
NM_172362.3(KCNH1):c.1480A>G (p.Ile494Val) rs727502819
NM_172362.3(KCNH1):c.1486G>A (p.Gly496Arg) rs730882175
NM_172362.3(KCNH1):c.1508A>G (p.Gln503Arg) rs727502821
NM_172362.3(KCNH1):c.1546C>T (p.Leu516Phe) rs727502820
NM_172362.3(KCNH1):c.651G>C (p.Lys217Asn) rs727502822

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.