ClinVar Miner

List of variants studied for short QT syndrome by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000238.4(KCNH2):c.621C>T (p.Ser207=) rs41314417 0.00289
NM_000238.4(KCNH2):c.355G>C (p.Asp119His) rs376308069 0.00015
NM_000238.4(KCNH2):c.1341C>T (p.Tyr447=) rs367570298 0.00008
NM_000238.4(KCNH2):c.3139C>T (p.Arg1047Cys) rs377095107 0.00002
NM_000218.3(KCNQ1):c.1781G>A (p.Arg594Gln) rs199472815 0.00001
NM_000238.4(KCNH2):c.1713C>T (p.Ile571=) rs768652751 0.00001
NM_000218.3(KCNQ1):c.387-6394G>C
NM_000218.3(KCNQ1):c.899C>A (p.Ala300Glu) rs1001293702
NM_000238.4(KCNH2):c.1325C>T (p.Ala442Val) rs1554426225
NM_000238.4(KCNH2):c.1582_1603del (p.Arg528fs) rs2116964263
NM_000238.4(KCNH2):c.2050A>G (p.Ile684Val) rs2116955179
NM_000238.4(KCNH2):c.2592+3G>A rs906562788
NM_000238.4(KCNH2):c.2959_2960del (p.Leu987fs) rs748706373
NM_000238.4(KCNH2):c.3017del (p.Gly1006fs) rs794728504
NM_000238.4(KCNH2):c.551GCGCGGGCG[1] (p.184GAG[1]) rs551056698

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.