ClinVar Miner

List of variants in gene KCNQ1 reported as uncertain significance for Cardiovascular phenotype

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 155
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000218.3(KCNQ1):c.1861G>A (p.Gly621Ser) rs199472820 0.00024
NM_000218.3(KCNQ1):c.217C>A (p.Pro73Thr) rs199472676 0.00015
NM_000218.3(KCNQ1):c.1189C>T (p.Arg397Trp) rs199472776 0.00013
NM_000218.3(KCNQ1):c.584G>A (p.Arg195Gln) rs138362632 0.00008
NM_000218.3(KCNQ1):c.1201C>T (p.Arg401Trp) rs766616232 0.00007
NM_000218.3(KCNQ1):c.136G>A (p.Ala46Thr) rs199473671 0.00007
NM_000218.3(KCNQ1):c.1733-3T>C rs372912362 0.00006
NM_000218.3(KCNQ1):c.2017G>A (p.Asp673Asn) rs866169644 0.00006
NM_000218.3(KCNQ1):c.875G>A (p.Gly292Asp) rs199472736 0.00006
NM_000218.3(KCNQ1):c.1128+4C>T rs201590918 0.00005
NM_000218.3(KCNQ1):c.1553G>A (p.Arg518Gln) rs145974930 0.00005
NM_000218.3(KCNQ1):c.1885G>A (p.Gly629Ser) rs775608046 0.00005
NM_000218.3(KCNQ1):c.197C>A (p.Ser66Tyr) rs199473446 0.00005
NM_000218.3(KCNQ1):c.860C>A (p.Ala287Glu) rs199472735 0.00005
NM_000218.3(KCNQ1):c.1033-5C>G rs764094211 0.00004
NM_000218.3(KCNQ1):c.1345G>A (p.Glu449Lys) rs372583676 0.00004
NM_000218.3(KCNQ1):c.1748G>A (p.Arg583His) rs199473482 0.00004
NM_000218.3(KCNQ1):c.242C>T (p.Pro81Leu) rs771921468 0.00004
NM_000218.3(KCNQ1):c.41G>T (p.Arg14Leu) rs1424013094 0.00004
NM_000218.3(KCNQ1):c.583C>T (p.Arg195Trp) rs150172393 0.00004
NM_000218.3(KCNQ1):c.1238A>G (p.Lys413Arg) rs1351149628 0.00003
NM_000218.3(KCNQ1):c.1375G>A (p.Asp459Asn) rs747704276 0.00003
NM_000218.3(KCNQ1):c.1378G>A (p.Gly460Ser) rs199472783 0.00003
NM_000218.3(KCNQ1):c.1555C>T (p.Arg519Cys) rs199472787 0.00003
NM_000218.3(KCNQ1):c.1936G>A (p.Gly646Ser) rs763478809 0.00003
NM_000218.3(KCNQ1):c.233A>C (p.Asp78Ala) rs1846021008 0.00003
NM_000218.3(KCNQ1):c.484G>A (p.Val162Met) rs199472692 0.00003
NM_000218.3(KCNQ1):c.683+3G>A rs1025802726 0.00003
NM_000218.3(KCNQ1):c.1252G>A (p.Val418Ile) rs777347006 0.00002
NM_000218.3(KCNQ1):c.1621G>A (p.Val541Ile) rs199472796 0.00002
NM_000218.3(KCNQ1):c.1726G>A (p.Val576Ile) rs750409379 0.00002
NM_000218.3(KCNQ1):c.187C>T (p.Pro63Ser) rs1280717988 0.00002
NM_000218.3(KCNQ1):c.1882G>A (p.Gly628Ser) rs745990205 0.00002
NM_000218.3(KCNQ1):c.1892C>G (p.Pro631Arg) rs1432436411 0.00002
NM_000218.3(KCNQ1):c.590C>T (p.Pro197Leu) rs200108320 0.00002
NM_000218.3(KCNQ1):c.877C>T (p.Arg293Cys) rs199472737 0.00002
NM_000218.3(KCNQ1):c.898G>A (p.Ala300Thr) rs120074187 0.00002
NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg) rs12720458 0.00001
NM_000218.3(KCNQ1):c.1132G>A (p.Ala378Thr) rs756571615 0.00001
NM_000218.3(KCNQ1):c.1142G>A (p.Cys381Tyr) rs368507376 0.00001
NM_000218.3(KCNQ1):c.1190G>A (p.Arg397Gln) rs374090960 0.00001
NM_000218.3(KCNQ1):c.1198C>G (p.Pro400Ala) rs1489132337 0.00001
NM_000218.3(KCNQ1):c.1286A>G (p.Asn429Ser) rs1464968488 0.00001
NM_000218.3(KCNQ1):c.1336G>A (p.Asp446Asn) rs149089817 0.00001
NM_000218.3(KCNQ1):c.1348G>A (p.Glu450Lys) rs148266527 0.00001
NM_000218.3(KCNQ1):c.1351C>T (p.Arg451Trp) rs199472782 0.00001
NM_000218.3(KCNQ1):c.1520G>A (p.Arg507Gln) rs369571296 0.00001
NM_000218.3(KCNQ1):c.1597C>T (p.Arg533Trp) rs199472793 0.00001
NM_000218.3(KCNQ1):c.1598G>A (p.Arg533Gln) rs574321120 0.00001
NM_000218.3(KCNQ1):c.1876G>A (p.Gly626Ser) rs199472821 0.00001
NM_000218.3(KCNQ1):c.1904G>A (p.Gly635Glu) rs939431028 0.00001
NM_000218.3(KCNQ1):c.1999G>A (p.Val667Met) rs776119582 0.00001
NM_000218.3(KCNQ1):c.287C>G (p.Thr96Arg) rs1337409061 0.00001
NM_000218.3(KCNQ1):c.437A>G (p.Glu146Gly) rs914460959 0.00001
NM_000218.3(KCNQ1):c.506C>T (p.Thr169Met) rs199472693 0.00001
NM_000218.3(KCNQ1):c.514G>A (p.Val172Met) rs199472694 0.00001
NM_000218.3(KCNQ1):c.541C>T (p.Arg181Cys) rs199473395 0.00001
NM_000218.3(KCNQ1):c.559C>T (p.Leu187Phe) rs1282771390 0.00001
NM_000218.3(KCNQ1):c.574C>T (p.Arg192Cys) rs775059928 0.00001
NM_000218.3(KCNQ1):c.575G>A (p.Arg192His) rs199472698 0.00001
NM_000218.3(KCNQ1):c.64G>C (p.Gly22Arg) rs794728545 0.00001
NM_000218.3(KCNQ1):c.684-5C>T rs1212611138 0.00001
NM_000218.3(KCNQ1):c.698T>C (p.Leu233Pro) rs780236727 0.00001
NM_000218.3(KCNQ1):c.70C>T (p.Arg24Trp) rs990778345 0.00001
NM_000218.3(KCNQ1):c.721G>A (p.Val241Ile) rs199956744 0.00001
NM_000218.3(KCNQ1):c.827C>T (p.Ser276Phe) rs794728514 0.00001
NM_000218.3(KCNQ1):c.985G>A (p.Ala329Thr) rs543428644 0.00001
NM_000218.3(KCNQ1):c.-3G>A
NM_000218.3(KCNQ1):c.-3G>C
NM_000218.3(KCNQ1):c.-4C>A
NM_000218.3(KCNQ1):c.1021G>A (p.Ala341Thr)
NM_000218.3(KCNQ1):c.1032+3A>G
NM_000218.3(KCNQ1):c.1073A>C (p.Lys358Thr)
NM_000218.3(KCNQ1):c.1128+5G>C
NM_000218.3(KCNQ1):c.1138A>G (p.Arg380Gly) rs199472770
NM_000218.3(KCNQ1):c.1162G>A (p.Asp388Asn) rs537637760
NM_000218.3(KCNQ1):c.1165TCC[3] (p.Ser390_Thr391insSer) rs1064793160
NM_000218.3(KCNQ1):c.1171A>C (p.Thr391Pro)
NM_000218.3(KCNQ1):c.1193A>G (p.Lys398Arg) rs199472777
NM_000218.3(KCNQ1):c.1196C>G (p.Ala399Gly) rs876657836
NM_000218.3(KCNQ1):c.1211C>T (p.Thr404Ile)
NM_000218.3(KCNQ1):c.1259A>G (p.Lys420Arg)
NM_000218.3(KCNQ1):c.1290_1301del (p.Val431_Gly434del) rs750178990
NM_000218.3(KCNQ1):c.1327A>G (p.Ile443Val) rs1848631038
NM_000218.3(KCNQ1):c.1340C>A (p.Pro447His) rs143149582
NM_000218.3(KCNQ1):c.1343C>A (p.Pro448Gln) rs12720449
NM_000218.3(KCNQ1):c.1355G>T (p.Arg452Leu) rs145229963
NM_000218.3(KCNQ1):c.152A>G (p.Tyr51Cys)
NM_000218.3(KCNQ1):c.1537A>G (p.Thr513Ala)
NM_000218.3(KCNQ1):c.1578G>T (p.Lys526Asn) rs1554919483
NM_000218.3(KCNQ1):c.1591-4G>T rs555518358
NM_000218.3(KCNQ1):c.1595C>T (p.Ala532Val) rs867549263
NM_000218.3(KCNQ1):c.1603C>A (p.Pro535Thr) rs2133989242
NM_000218.3(KCNQ1):c.160ATCGCGCCC[3] (p.Pro56_Gly57insIleAlaProIleAlaPro)
NM_000218.3(KCNQ1):c.160_168dup (p.Ile54_Pro56dup) rs397515877
NM_000218.3(KCNQ1):c.1670A>G (p.Lys557Arg)
NM_000218.3(KCNQ1):c.1685+3G>A
NM_000218.3(KCNQ1):c.1703G>A (p.Gly568Glu)
NM_000218.3(KCNQ1):c.1720A>G (p.Ile574Val) rs761947465
NM_000218.3(KCNQ1):c.1724C>T (p.Ser575Phe)
NM_000218.3(KCNQ1):c.172G>A (p.Ala58Thr)
NM_000218.3(KCNQ1):c.1738A>G (p.Ser580Gly)
NM_000218.3(KCNQ1):c.175C>G (p.Pro59Ala) rs1554958059
NM_000218.3(KCNQ1):c.1768G>C (p.Ala590Pro) rs199472813
NM_000218.3(KCNQ1):c.1779C>G (p.Asn593Lys) rs1421636319
NM_000218.3(KCNQ1):c.1785AGA[1] (p.Glu596del)
NM_000218.3(KCNQ1):c.1794+3A>T
NM_000218.3(KCNQ1):c.1794G>A (p.Lys598=) rs794728539
NM_000218.3(KCNQ1):c.1819G>T (p.Ala607Ser)
NM_000218.3(KCNQ1):c.1822C>G (p.Leu608Val) rs1554932663
NM_000218.3(KCNQ1):c.1826T>A (p.Ile609Asn)
NM_000218.3(KCNQ1):c.1841A>T (p.His614Leu)
NM_000218.3(KCNQ1):c.1862G>A (p.Gly621Asp) rs1590130205
NM_000218.3(KCNQ1):c.1922C>T (p.Pro641Leu)
NM_000218.3(KCNQ1):c.192_221del (p.Ala65_Pro74del) rs781335353
NM_000218.3(KCNQ1):c.1987G>A (p.Glu663Lys)
NM_000218.3(KCNQ1):c.1990C>T (p.Gln664Ter)
NM_000218.3(KCNQ1):c.2023G>A (p.Gly675Arg)
NM_000218.3(KCNQ1):c.202GCCGCGCCC[1] (p.68AAP[1]) rs397508107
NM_000218.3(KCNQ1):c.202GCCGCGCCC[3] (p.68AAP[3]) rs397508107
NM_000218.3(KCNQ1):c.209C>T (p.Pro70Leu)
NM_000218.3(KCNQ1):c.275C>G (p.Ser92Cys) rs752170852
NM_000218.3(KCNQ1):c.293G>A (p.Arg98His)
NM_000218.3(KCNQ1):c.296C>G (p.Pro99Arg) rs370435862
NM_000218.3(KCNQ1):c.31G>A (p.Glu11Lys) rs959449103
NM_000218.3(KCNQ1):c.383C>T (p.Ala128Val)
NM_000218.3(KCNQ1):c.420C>A (p.Ser140Arg)
NM_000218.3(KCNQ1):c.430A>G (p.Thr144Ala) rs199473451
NM_000218.3(KCNQ1):c.467T>G (p.Leu156Arg)
NM_000218.3(KCNQ1):c.511T>C (p.Tyr171His) rs1848317948
NM_000218.3(KCNQ1):c.542G>A (p.Arg181His)
NM_000218.3(KCNQ1):c.553G>C (p.Val185Leu) rs749351255
NM_000218.3(KCNQ1):c.566G>C (p.Gly189Ala)
NM_000218.3(KCNQ1):c.581C>T (p.Ala194Val) rs2133727494
NM_000218.3(KCNQ1):c.586A>C (p.Lys196Gln) rs1589956747
NM_000218.3(KCNQ1):c.598A>G (p.Ile200Val)
NM_000218.3(KCNQ1):c.605-5C>T
NM_000218.3(KCNQ1):c.629T>C (p.Met210Thr) rs886038994
NM_000218.3(KCNQ1):c.683+4C>T rs554698776
NM_000218.3(KCNQ1):c.684-4G>A rs750965939
NM_000218.3(KCNQ1):c.701A>G (p.Gln234Arg) rs794728570
NM_000218.3(KCNQ1):c.797T>G (p.Leu266Arg) rs199473460
NM_000218.3(KCNQ1):c.800A>T (p.Tyr267Phe) rs886039033
NM_000218.3(KCNQ1):c.847G>T (p.Ala283Ser)
NM_000218.3(KCNQ1):c.848C>T (p.Ala283Val)
NM_000218.3(KCNQ1):c.850_852del (p.Glu284del) rs1064796353
NM_000218.3(KCNQ1):c.851A>G (p.Glu284Gly) rs1848362105
NM_000218.3(KCNQ1):c.860C>T (p.Ala287Val) rs199472735
NM_000218.3(KCNQ1):c.86G>T (p.Gly29Val)
NM_000218.3(KCNQ1):c.889G>C (p.Gly297Arg) rs34320941
NM_000218.3(KCNQ1):c.894C>A (p.Ser298Arg)
NM_000218.3(KCNQ1):c.914G>T (p.Trp305Leu) rs120074186
NM_000218.3(KCNQ1):c.922-3C>A rs794728515
NM_000218.3(KCNQ1):c.970G>T (p.Val324Phe) rs1848536066
NM_000218.3(KCNQ1):c.989C>A (p.Ser330Tyr)

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.