ClinVar Miner

List of variants in gene KCNQ1 reported as pathogenic for Cardiovascular phenotype

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 38
Download table as spreadsheet
HGVS dbSNP
NM_000218.2(KCNQ1):c.200_210del (p.Pro67fs) rs1435990592
NM_181798.1(KCNQ1):c.107del (p.Leu36fs) rs397508112
NM_181798.1(KCNQ1):c.1171C>T (p.Arg391Ter) rs17215500
NM_181798.1(KCNQ1):c.1207C>T (p.Gln403Ter) rs397508097
NM_181798.1(KCNQ1):c.121G>A (p.Gly41Arg) rs179489
NM_181798.1(KCNQ1):c.121G>C (p.Gly41Arg) rs179489
NM_181798.1(KCNQ1):c.1282C>T (p.Arg428Cys) rs120074185
NM_181798.1(KCNQ1):c.129del (p.Glu43fs) rs1554892895
NM_181798.1(KCNQ1):c.132C>A (p.Tyr44Ter) rs139042529
NM_181798.1(KCNQ1):c.1379C>T (p.Thr460Met) rs120074189
NM_181798.1(KCNQ1):c.1385G>A (p.Gly462Asp) rs120074190
NM_181798.1(KCNQ1):c.1400G>A (p.Arg467Gln) rs199472815
NM_181798.1(KCNQ1):c.143_153del (p.Leu48fs) rs763462603
NM_181798.1(KCNQ1):c.183G>A (p.Trp61Ter) rs530612385
NM_181798.1(KCNQ1):c.186dup (p.Arg63fs) rs397508117
NM_181798.1(KCNQ1):c.188G>A (p.Arg63Gln) rs120074178
NM_181798.1(KCNQ1):c.192_196del (p.Arg65fs) rs397508118
NM_181798.1(KCNQ1):c.223G>A (p.Asp75Asn) rs199472702
NM_181798.1(KCNQ1):c.232G>A (p.Val78Met) rs151344631
NM_181798.1(KCNQ1):c.349C>T (p.Gln117Ter) rs1554893091
NM_181798.1(KCNQ1):c.379G>A (p.Val127Met) rs120074179
NM_181798.1(KCNQ1):c.394C>T (p.Arg132Cys) rs199472719
NM_181798.1(KCNQ1):c.40G>A (p.Val14Met) rs199472687
NM_181798.1(KCNQ1):c.436C>T (p.Leu146Phe) rs120074180
NM_181798.1(KCNQ1):c.449C>T (p.Ser150Leu) rs199472730
NM_181798.1(KCNQ1):c.533G>A (p.Trp178Ter) rs120074186
NM_181798.1(KCNQ1):c.559G>C (p.Gly187Arg) rs120074184
NM_181798.1(KCNQ1):c.563A>G (p.Tyr188Cys) rs74462309
NM_181798.1(KCNQ1):c.568G>A (p.Asp190Asn) rs199472751
NM_181798.1(KCNQ1):c.584C>T (p.Thr195Met) rs199472755
NM_181798.1(KCNQ1):c.633_635CTT[1] (p.Phe213del) rs397508068
NM_181798.1(KCNQ1):c.641C>A (p.Ala214Glu) rs12720459
NM_181798.1(KCNQ1):c.641C>T (p.Ala214Val) rs12720459
NM_181798.1(KCNQ1):c.651G>A (p.Ala217=) rs1800171
NM_181798.1(KCNQ1):c.694C>T (p.Gln232Ter) rs397508075
NM_181798.1(KCNQ1):c.700C>T (p.Gln234Ter) rs794728571
NM_181798.1(KCNQ1):c.743_746del (p.Ile248fs) rs397508077
NM_181798.1(KCNQ1):c.820dup (p.Arg274fs) rs397508082

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.