ClinVar Miner

List of variants studied for long QT syndrome by ClinVar Staff, National Center for Biotechnology Information (NCBI)

Included ClinVar conditions (78):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 30
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000218.3(KCNQ1):c.1018_1020del (p.Phe340del) rs397508069
NM_000218.3(KCNQ1):c.1032+5G>A rs397508071
NM_000218.3(KCNQ1):c.1066_1071del (p.Gln356_Gln357del) rs397508073
NM_000218.3(KCNQ1):c.1067AGCAGA[1] (p.Lys358_Gln359del) rs397508074
NM_000218.3(KCNQ1):c.1083_1088dup (p.Lys362_His363insGlnLys) rs397508076
NM_000218.3(KCNQ1):c.1128+1G>T rs397508078
NM_000218.3(KCNQ1):c.1149dup (p.Ala384fs) rs397508079
NM_000218.3(KCNQ1):c.1174_1176dup (p.Trp392_Lys393insTrp) rs397508080
NM_000218.3(KCNQ1):c.1189del (p.Arg397fs) rs397508081
NM_000218.3(KCNQ1):c.1291dup (p.Val431fs) rs397508085
NM_000218.3(KCNQ1):c.1293dup (p.Thr432fs) rs397508086
NM_000218.3(KCNQ1):c.1345dup (p.Glu449fs) rs397508089
NM_000218.3(KCNQ1):c.1513C>T (p.Gln505Ter) rs397508091
NM_000218.3(KCNQ1):c.1514+1G>A rs397508093
NM_000218.3(KCNQ1):c.151dup (p.Tyr51fs) rs397508094
NM_000218.3(KCNQ1):c.1539del (p.Ile514fs) rs397508095
NM_000218.3(KCNQ1):c.1686-1G>A rs397508098
NM_000218.3(KCNQ1):c.1710del (p.Ser571fs) rs397508099
NM_000218.3(KCNQ1):c.1725_1728del (p.Val576fs) rs397508100
NM_000218.3(KCNQ1):c.1876_1893del (p.Gly626_Pro631del) rs397508102
NM_000218.3(KCNQ1):c.202GCCGCGCCC[3] (p.68AAP[3]) rs397508107
NM_000218.3(KCNQ1):c.287del (p.Thr96fs) rs397508108
NM_000218.3(KCNQ1):c.363dup (p.Cys122fs) rs1554958119
NM_000218.3(KCNQ1):c.500_502del (p.Phe167_Gly168delinsTrp) rs397508113
NM_000218.3(KCNQ1):c.504del (p.Thr169fs) rs397508114
NM_000218.3(KCNQ1):c.577T>C (p.Phe193Leu) rs397508119
NM_000218.3(KCNQ1):c.663_664dup (p.Phe222fs) rs397508121
NM_000218.3(KCNQ1):c.743_744delinsTC (p.Trp248Phe) rs397508123
NM_000218.3(KCNQ1):c.921_921+2del rs397508132
NM_000218.3(KCNQ1):c.922-2A>C rs397508133

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.