ClinVar Miner

List of variants in gene KCNQ1 reported as uncertain significance for Long QT syndrome

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 401
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HGVS dbSNP gnomAD frequency
NM_000218.3(KCNQ1):c.1799C>T (p.Thr600Met) rs34516117 0.00062
NM_000218.3(KCNQ1):c.1179G>T (p.Lys393Asn) rs12720457 0.00053
NM_000218.3(KCNQ1):c.458C>T (p.Thr153Met) rs143709408 0.00036
NM_000218.3(KCNQ1):c.1355G>A (p.Arg452Gln) rs145229963 0.00025
NM_000218.3(KCNQ1):c.1352G>A (p.Arg451Gln) rs199472781 0.00020
NM_000218.3(KCNQ1):c.1354C>T (p.Arg452Trp) rs140452381 0.00016
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.1388G>C (p.Ser463Thr) rs184636161 0.00011
NM_000218.3(KCNQ1):c.328G>A (p.Val110Ile) rs199472677 0.00009
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.1831G>A (p.Asp611Asn) rs147445322 0.00007
NM_000218.3(KCNQ1):c.493G>A (p.Val165Met) rs1085307580 0.00007
NM_000218.3(KCNQ1):c.*897G>T rs561861522 0.00006
NM_000218.3(KCNQ1):c.1733-3T>C rs372912362 0.00006
NM_000218.3(KCNQ1):c.1888C>T (p.Pro630Ser) rs199472822 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.1903G>A (p.Gly635Arg) rs199473484 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.868G>A (p.Glu290Lys) rs199473464 0.00005
NM_000218.3(KCNQ1):c.*554T>G rs886048172 0.00004
NM_000218.3(KCNQ1):c.1748G>A (p.Arg583His) rs199473482 0.00004
NM_000218.3(KCNQ1):c.1750G>A (p.Gly584Ser) rs199472811 0.00004
NM_000218.3(KCNQ1):c.1945G>A (p.Asp649Asn) rs781333509 0.00004
NM_000218.3(KCNQ1):c.230C>T (p.Ser77Phe) rs774349962 0.00004
NM_000218.3(KCNQ1):c.242C>T (p.Pro81Leu) rs771921468 0.00004
NM_000218.3(KCNQ1):c.385G>A (p.Val129Ile) rs199472683 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.603C>T (p.Ile201=) rs146190510 0.00004
NM_000218.3(KCNQ1):c.889G>A (p.Gly297Ser) rs34320941 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.1552C>T (p.Arg518Ter) rs17215500 0.00003
NM_000218.3(KCNQ1):c.1555C>T (p.Arg519Cys) rs199472787 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.1321C>T (p.Pro441Ser) rs199473475 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.1892C>G (p.Pro631Arg) rs1432436411 0.00002
NM_000218.3(KCNQ1):c.2020G>A (p.Glu674Lys) rs762122463 0.00002
NM_000218.3(KCNQ1):c.274T>C (p.Ser92Pro) rs764455359 0.00002
NM_000218.3(KCNQ1):c.448G>A (p.Ala150Thr) rs794728577 0.00002
NM_000218.3(KCNQ1):c.553G>A (p.Val185Met) rs749351255 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.878G>A (p.Arg293His) rs199473465 0.00002
NM_000218.3(KCNQ1):c.1109C>T (p.Ala370Val) rs775362401 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.1153G>A (p.Glu385Lys) rs199473473 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.1202G>A (p.Arg401Gln) rs542628042 0.00001
NM_000218.3(KCNQ1):c.1285A>G (p.Asn429Asp) rs778979075 0.00001
NM_000218.3(KCNQ1):c.1286A>G (p.Asn429Ser) rs1464968488 0.00001
NM_000218.3(KCNQ1):c.1351C>T (p.Arg451Trp) rs199472782 0.00001
NM_000218.3(KCNQ1):c.137C>A (p.Ala46Glu) rs1194125121 0.00001
NM_000218.3(KCNQ1):c.1384G>A (p.Asp462Asn) rs776205380 0.00001
NM_000218.3(KCNQ1):c.1520G>A (p.Arg507Gln) rs369571296 0.00001
NM_000218.3(KCNQ1):c.1532G>A (p.Arg511Gln) rs753962384 0.00001
NM_000218.3(KCNQ1):c.1556G>A (p.Arg519His) rs199472788 0.00001
NM_000218.3(KCNQ1):c.1576A>G (p.Lys526Glu) rs199472792 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.1794+6C>T rs1481251308 0.00001
NM_000218.3(KCNQ1):c.1864G>A (p.Gly622Ser) rs1225780996 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.1925G>T (p.Cys642Phe) rs1456989889 0.00001
NM_000218.3(KCNQ1):c.1973C>A (p.Thr658Asn) rs377661455 0.00001
NM_000218.3(KCNQ1):c.1978C>T (p.Pro660Ser) rs867880610 0.00001
NM_000218.3(KCNQ1):c.1999G>A (p.Val667Met) rs776119582 0.00001
NM_000218.3(KCNQ1):c.2009G>A (p.Arg670Lys) rs763389576 0.00001
NM_000218.3(KCNQ1):c.232G>C (p.Asp78His) rs1846020954 0.00001
NM_000218.3(KCNQ1):c.287C>G (p.Thr96Arg) rs1337409061 0.00001
NM_000218.3(KCNQ1):c.343G>A (p.Glu115Lys) rs794728553 0.00001
NM_000218.3(KCNQ1):c.38A>G (p.Lys13Arg) rs1060500622 0.00001
NM_000218.3(KCNQ1):c.394A>C (p.Ile132Leu) rs199472684 0.00001
NM_000218.3(KCNQ1):c.475A>T (p.Met159Leu) rs1589931165 0.00001
NM_000218.3(KCNQ1):c.477+4C>T rs763599970 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.574C>T (p.Arg192Cys) rs775059928 0.00001
NM_000218.3(KCNQ1):c.575G>A (p.Arg192His) rs199472698 0.00001
NM_000218.3(KCNQ1):c.592A>G (p.Ile198Val) rs199472700 0.00001
NM_000218.3(KCNQ1):c.62C>T (p.Pro21Leu) rs1589884196 0.00001
NM_000218.3(KCNQ1):c.64G>C (p.Gly22Arg) rs794728545 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.802A>G (p.Ile268Val) rs757421492 0.00001
NM_000218.3(KCNQ1):c.880G>A (p.Val294Met) rs749073770 0.00001
NM_000218.3(KCNQ1):c.985G>A (p.Ala329Thr) rs543428644 0.00001
NC_000011.9:g.(?_2591838)_(2594236_?)dup
NC_000011.9:g.(?_2591838)_(2604795_?)dup
NM_000218.2(KCNQ1):c.1795_1803dup (p.Gln601_Leu602insValThrGln)
NM_000218.3(KCNQ1):c.*160C>A rs886048167
NM_000218.3(KCNQ1):c.*19G>A
NM_000218.3(KCNQ1):c.*26C>A rs886048166
NM_000218.3(KCNQ1):c.*292C>A rs886048169
NM_000218.3(KCNQ1):c.*398C>T rs886048170
NM_000218.3(KCNQ1):c.*887_*889del rs886048175
NM_000218.3(KCNQ1):c.1004T>G (p.Phe335Cys) rs2133750895
NM_000218.3(KCNQ1):c.1009A>T (p.Ile337Phe) rs794728520
NM_000218.3(KCNQ1):c.1025T>A (p.Leu342His) rs794728522
NM_000218.3(KCNQ1):c.1029_1031dup (p.Ala344_Gly345insAla) rs794728559
NM_000218.3(KCNQ1):c.1030G>A (p.Ala344Thr) rs1554894481
NM_000218.3(KCNQ1):c.1031C>G (p.Ala344Gly) rs199472763
NM_000218.3(KCNQ1):c.1032+3A>T
NM_000218.3(KCNQ1):c.1032+4G>C
NM_000218.3(KCNQ1):c.1032+5G>T rs397508071
NM_000218.3(KCNQ1):c.1049G>T (p.Gly350Val) rs794728524
NM_000218.3(KCNQ1):c.104C>G (p.Pro35Arg)
NM_000218.3(KCNQ1):c.104C>T (p.Pro35Leu) rs1373379406
NM_000218.3(KCNQ1):c.1054G>C (p.Ala352Pro)
NM_000218.3(KCNQ1):c.1055C>A (p.Ala352Asp)
NM_000218.3(KCNQ1):c.1058T>C (p.Leu353Pro) rs199473403
NM_000218.3(KCNQ1):c.1066_1071del (p.Gln356_Gln357del) rs397508073
NM_000218.3(KCNQ1):c.1069C>G (p.Gln357Glu) rs1554894743
NM_000218.3(KCNQ1):c.1070A>G (p.Gln357Arg) rs199473405
NM_000218.3(KCNQ1):c.1076A>C (p.Gln359Pro) rs1085307965
NM_000218.3(KCNQ1):c.1079_1084dup (p.Gln361_Lys362insArgGln) rs1848576084
NM_000218.3(KCNQ1):c.1081C>G (p.Gln361Glu) rs794728571
NM_000218.3(KCNQ1):c.1087C>A (p.His363Asn) rs199473408
NM_000218.3(KCNQ1):c.1092C>T (p.Phe364=) rs2133754700
NM_000218.3(KCNQ1):c.1126C>G (p.Gln376Glu) rs1564825414
NM_000218.3(KCNQ1):c.1127A>G (p.Gln376Arg) rs2133754848
NM_000218.3(KCNQ1):c.1128+5G>C
NM_000218.3(KCNQ1):c.1128+6G>A rs558595162
NM_000218.3(KCNQ1):c.1132G>T (p.Ala378Ser) rs756571615
NM_000218.3(KCNQ1):c.1143C>G (p.Cys381Trp) rs1848610060
NM_000218.3(KCNQ1):c.1150G>A (p.Ala384Thr) rs1848610150
NM_000218.3(KCNQ1):c.1158C>A (p.Asn386Lys)
NM_000218.3(KCNQ1):c.1165T>G (p.Ser389Ala) rs199472772
NM_000218.3(KCNQ1):c.1165_1166inv (p.Ser389Asp)
NM_000218.3(KCNQ1):c.1171A>C (p.Thr391Pro)
NM_000218.3(KCNQ1):c.1178A>T (p.Lys393Met) rs199472775
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.1196C>T (p.Ala399Val) rs876657836
NM_000218.3(KCNQ1):c.1202G>C (p.Arg401Pro)
NM_000218.3(KCNQ1):c.1205G>A (p.Ser402Asn) rs878853753
NM_000218.3(KCNQ1):c.1223C>G (p.Pro408Arg)
NM_000218.3(KCNQ1):c.1251+13C>T rs201364493
NM_000218.3(KCNQ1):c.1251+5G>A rs1564826087
NM_000218.3(KCNQ1):c.1251G>T (p.Val417=)
NM_000218.3(KCNQ1):c.1290_1301del (p.Val431_Gly434del) rs750178990
NM_000218.3(KCNQ1):c.1301G>A (p.Gly434Glu)
NM_000218.3(KCNQ1):c.130G>A (p.Gly44Ser)
NM_000218.3(KCNQ1):c.1322C>T (p.Pro441Leu) rs1848630761
NM_000218.3(KCNQ1):c.1324C>G (p.His442Asp) rs72549409
NM_000218.3(KCNQ1):c.1327A>G (p.Ile443Val) rs1848631038
NM_000218.3(KCNQ1):c.1331C>T (p.Thr444Met)
NM_000218.3(KCNQ1):c.1349A>G (p.Glu450Gly) rs1057518902
NM_000218.3(KCNQ1):c.134C>G (p.Pro45Arg) rs1173954679
NM_000218.3(KCNQ1):c.134C>T (p.Pro45Leu)
NM_000218.3(KCNQ1):c.1355G>T (p.Arg452Leu) rs145229963
NM_000218.3(KCNQ1):c.136_147dup (p.Ala49_Leu50insAlaGlyGlyAla)
NM_000218.3(KCNQ1):c.1375G>T (p.Asp459Tyr)
NM_000218.3(KCNQ1):c.1377C>G (p.Asp459Glu) rs200418488
NM_000218.3(KCNQ1):c.1515-7_1515-6insGC rs1554919460
NM_000218.3(KCNQ1):c.1527C>A (p.His509Gln)
NM_000218.3(KCNQ1):c.152A>G (p.Tyr51Cys)
NM_000218.3(KCNQ1):c.1531C>T (p.Arg511Trp) rs199472785
NM_000218.3(KCNQ1):c.1537A>T (p.Thr513Ser) rs778975231
NM_000218.3(KCNQ1):c.1540A>G (p.Ile514Val)
NM_000218.3(KCNQ1):c.1545G>T (p.Lys515Asn) rs794728532
NM_000218.3(KCNQ1):c.1546G>A (p.Val516Ile)
NM_000218.3(KCNQ1):c.1560G>A (p.Met520Ile) rs1846543163
NM_000218.3(KCNQ1):c.1574C>T (p.Ala525Val) rs199472791
NM_000218.3(KCNQ1):c.1576A>C (p.Lys526Gln) rs199472792
NM_000218.3(KCNQ1):c.1587C>A (p.Phe529Leu)
NM_000218.3(KCNQ1):c.1589A>C (p.Gln530Pro) rs1057524487
NM_000218.3(KCNQ1):c.1590G>A (p.Gln530=) rs1846543956
NM_000218.3(KCNQ1):c.1591-4G>T rs555518358
NM_000218.3(KCNQ1):c.1595C>T (p.Ala532Val) rs867549263
NM_000218.3(KCNQ1):c.1597C>G (p.Arg533Gly)
NM_000218.3(KCNQ1):c.1603C>A (p.Pro535Thr) rs2133989242
NM_000218.3(KCNQ1):c.1634A>T (p.Tyr545Phe)
NM_000218.3(KCNQ1):c.1640A>G (p.Gln547Arg) rs199472798
NM_000218.3(KCNQ1):c.1643G>A (p.Gly548Asp) rs199472799
NM_000218.3(KCNQ1):c.1664G>T (p.Arg555Leu) rs199472800
NM_000218.3(KCNQ1):c.1672G>A (p.Glu558Lys)
NM_000218.3(KCNQ1):c.1673A>G (p.Glu558Gly)
NM_000218.3(KCNQ1):c.1676T>C (p.Leu559Pro)
NM_000218.3(KCNQ1):c.1685G>T (p.Arg562Met) rs199472802
NM_000218.3(KCNQ1):c.1686G>T (p.Arg562Ser) rs794728535
NM_000218.3(KCNQ1):c.1690G>A (p.Asp564Asn)
NM_000218.3(KCNQ1):c.1691A>G (p.Asp564Gly) rs1554920808
NM_000218.3(KCNQ1):c.1694A>C (p.Gln565Pro) rs1846716972
NM_000218.3(KCNQ1):c.1699A>G (p.Ile567Val)
NM_000218.3(KCNQ1):c.170G>A (p.Gly57Asp) rs199473445
NM_000218.3(KCNQ1):c.1712C>T (p.Ser571Leu) rs199472809
NM_000218.3(KCNQ1):c.1714C>G (p.Leu572Val)
NM_000218.3(KCNQ1):c.1720A>G (p.Ile574Val) rs761947465
NM_000218.3(KCNQ1):c.1739G>A (p.Ser580Asn)
NM_000218.3(KCNQ1):c.1747C>A (p.Arg583Ser) rs17221854
NM_000218.3(KCNQ1):c.1754G>A (p.Ser585Asn) rs751125725
NM_000218.3(KCNQ1):c.1755C>G (p.Ser585Arg) rs1564889912
NM_000218.3(KCNQ1):c.1762A>T (p.Ile588Phe) rs794728536
NM_000218.3(KCNQ1):c.1772G>C (p.Arg591Pro) rs199472814
NM_000218.3(KCNQ1):c.1779C>G (p.Asn593Lys) rs1421636319
NM_000218.3(KCNQ1):c.1780C>A (p.Arg594=) rs794728537
NM_000218.3(KCNQ1):c.1783G>A (p.Val595Ile)
NM_000218.3(KCNQ1):c.1783G>T (p.Val595Leu)
NM_000218.3(KCNQ1):c.1786G>A (p.Glu596Lys) rs199472816
NM_000218.3(KCNQ1):c.1794+2_1794+5del rs1846743506
NM_000218.3(KCNQ1):c.1794+5G>A
NM_000218.3(KCNQ1):c.1794G>A (p.Lys598=) rs794728539
NM_000218.3(KCNQ1):c.1795-2A>G rs867564993
NM_000218.3(KCNQ1):c.1795-3C>T
NM_000218.3(KCNQ1):c.1795-5C>A
NM_000218.3(KCNQ1):c.1795G>C (p.Val599Leu)
NM_000218.3(KCNQ1):c.1809C>A (p.Asp603Glu) rs916154167
NM_000218.3(KCNQ1):c.1811A>T (p.Gln604Leu) rs794728541
NM_000218.3(KCNQ1):c.1817T>A (p.Leu606Gln)
NM_000218.3(KCNQ1):c.181C>T (p.Pro61Ser)
NM_000218.3(KCNQ1):c.1823TCA[1] (p.Ile609del) rs1554932667
NM_000218.3(KCNQ1):c.1826T>A (p.Ile609Asn)
NM_000218.3(KCNQ1):c.1836G>A (p.Met612Ile) rs878853756
NM_000218.3(KCNQ1):c.1838T>C (p.Leu613Pro) rs1848362479
NM_000218.3(KCNQ1):c.1844A>G (p.Gln615Arg) rs1848362662
NM_000218.3(KCNQ1):c.1845G>T (p.Gln615His)
NM_000218.3(KCNQ1):c.1849C>T (p.Leu617Phe)
NM_000218.3(KCNQ1):c.1867A>G (p.Ser623Gly)
NM_000218.3(KCNQ1):c.1870A>G (p.Thr624Ala) rs1590130223
NM_000218.3(KCNQ1):c.1871C>T (p.Thr624Ile)
NM_000218.3(KCNQ1):c.1876G>C (p.Gly626Arg)
NM_000218.3(KCNQ1):c.1877G>T (p.Gly626Val)
NM_000218.3(KCNQ1):c.1886G>T (p.Gly629Val) rs1848364650
NM_000218.3(KCNQ1):c.1888C>A (p.Pro630Thr)
NM_000218.3(KCNQ1):c.1888C>G (p.Pro630Ala) rs199472822
NM_000218.3(KCNQ1):c.1906dup (p.Ala636fs) rs1464992494
NM_000218.3(KCNQ1):c.190C>T (p.Pro64Ser) rs1554958062
NM_000218.3(KCNQ1):c.190_210del (p.Pro64_Pro70del) rs1233039294
NM_000218.3(KCNQ1):c.1924T>C (p.Cys642Arg) rs1410404016
NM_000218.3(KCNQ1):c.192_200dup (p.Ser66_Ala68dup) rs750499842
NM_000218.3(KCNQ1):c.1936G>T (p.Gly646Cys) rs763478809
NM_000218.3(KCNQ1):c.1947C>A (p.Asp649Glu)
NM_000218.3(KCNQ1):c.1949del (p.Pro650fs) rs2134097372
NM_000218.3(KCNQ1):c.194C>T (p.Ala65Val)
NM_000218.3(KCNQ1):c.1952A>C (p.Glu651Ala)
NM_000218.3(KCNQ1):c.1979C>A (p.Pro660His) rs886048165
NM_000218.3(KCNQ1):c.197C>G (p.Ser66Cys)
NM_000218.3(KCNQ1):c.197C>T (p.Ser66Phe) rs199473446
NM_000218.3(KCNQ1):c.197_198delinsTA (p.Ser66Leu) rs2133559832
NM_000218.3(KCNQ1):c.1986C>G (p.Tyr662Ter) rs11601907
NM_000218.3(KCNQ1):c.1987G>A (p.Glu663Lys)
NM_000218.3(KCNQ1):c.200C>G (p.Pro67Arg)
NM_000218.3(KCNQ1):c.2012G>A (p.Gly671Asp)
NM_000218.3(KCNQ1):c.2013_*7del (p.Pro672fs) rs2134097591
NM_000218.3(KCNQ1):c.2013_*7dup (p.Arg669_Ter677=) rs2134097591
NM_000218.3(KCNQ1):c.2014C>G (p.Pro672Ala)
NM_000218.3(KCNQ1):c.2021A>G (p.Glu674Gly)
NM_000218.3(KCNQ1):c.2021A>T (p.Glu674Val)
NM_000218.3(KCNQ1):c.2025dup (p.Ser676fs) rs397508106
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.214G>C (p.Ala72Pro)
NM_000218.3(KCNQ1):c.235C>T (p.Leu79Phe)
NM_000218.3(KCNQ1):c.239G>C (p.Gly80Ala) rs1846021110
NM_000218.3(KCNQ1):c.247C>T (p.Pro83Ser) rs772821418
NM_000218.3(KCNQ1):c.250C>T (p.Pro84Ser) rs1846021360
NM_000218.3(KCNQ1):c.251C>G (p.Pro84Arg) rs794728551
NM_000218.3(KCNQ1):c.265C>A (p.Pro89Thr)
NM_000218.3(KCNQ1):c.268C>T (p.Arg90Cys)
NM_000218.3(KCNQ1):c.285C>A (p.Ser95Arg) rs1589884451
NM_000218.3(KCNQ1):c.28G>A (p.Ala10Thr)
NM_000218.3(KCNQ1):c.296C>A (p.Pro99Gln) rs370435862
NM_000218.3(KCNQ1):c.296C>G (p.Pro99Arg) rs370435862
NM_000218.3(KCNQ1):c.296C>T (p.Pro99Leu)
NM_000218.3(KCNQ1):c.29C>A (p.Ala10Asp) rs886048161
NM_000218.3(KCNQ1):c.317T>A (p.Val106Asp) rs1565023268
NM_000218.3(KCNQ1):c.31G>A (p.Glu11Lys) rs959449103
NM_000218.3(KCNQ1):c.329_330delinsAG (p.Val110Glu) rs1846023075
NM_000218.3(KCNQ1):c.32A>G (p.Glu11Gly)
NM_000218.3(KCNQ1):c.342C>A (p.Leu114=) rs1442231737
NM_000218.3(KCNQ1):c.352A>C (p.Thr118Pro)
NM_000218.3(KCNQ1):c.356G>T (p.Gly119Val) rs199472680
NM_000218.3(KCNQ1):c.357C>T (p.Gly119=) rs8178998
NM_000218.3(KCNQ1):c.365G>A (p.Cys122Tyr) rs199472681
NM_000218.3(KCNQ1):c.370G>T (p.Val124Phe)
NM_000218.3(KCNQ1):c.377A>T (p.His126Leu) rs794728579
NM_000218.3(KCNQ1):c.382G>A (p.Ala128Thr)
NM_000218.3(KCNQ1):c.382G>C (p.Ala128Pro) rs2133560384
NM_000218.3(KCNQ1):c.386T>C (p.Val129Ala) rs1846024488
NM_000218.3(KCNQ1):c.386T>G (p.Val129Gly) rs1846024488
NM_000218.3(KCNQ1):c.392T>C (p.Leu131Pro) rs794728550
NM_000218.3(KCNQ1):c.397G>A (p.Val133Ile) rs199473449
NM_000218.3(KCNQ1):c.401T>C (p.Leu134Pro) rs199472685
NM_000218.3(KCNQ1):c.409C>T (p.Leu137Phe) rs199473450
NM_000218.3(KCNQ1):c.428C>T (p.Ser143Phe) rs786204083
NM_000218.3(KCNQ1):c.436G>A (p.Glu146Lys) rs199472688
NM_000218.3(KCNQ1):c.45G>T (p.Trp15Cys) rs2133559405
NM_000218.3(KCNQ1):c.470T>G (p.Phe157Cys) rs199472690
NM_000218.3(KCNQ1):c.474G>C (p.Trp158Cys)
NM_000218.3(KCNQ1):c.478G>A (p.Glu160Lys) rs199473453
NM_000218.3(KCNQ1):c.490GTG[3] (p.Val165_Phe166insVal) rs1554892886
NM_000218.3(KCNQ1):c.491T>C (p.Val164Ala) rs1848316801
NM_000218.3(KCNQ1):c.494T>C (p.Val165Ala) rs1848317004
NM_000218.3(KCNQ1):c.495_497del (p.Phe167del) rs1589956533
NM_000218.3(KCNQ1):c.496T>G (p.Phe166Val) rs768419064
NM_000218.3(KCNQ1):c.509A>G (p.Glu170Gly)
NM_000218.3(KCNQ1):c.511T>C (p.Tyr171His) rs1848317948
NM_000218.3(KCNQ1):c.514G>C (p.Val172Leu) rs199472694
NM_000218.3(KCNQ1):c.524T>C (p.Leu175Pro) rs1589956588
NM_000218.3(KCNQ1):c.526T>C (p.Trp176Arg) rs1554892900
NM_000218.3(KCNQ1):c.527G>C (p.Trp176Ser)
NM_000218.3(KCNQ1):c.532G>A (p.Ala178Thr) rs120074177
NM_000218.3(KCNQ1):c.553G>C (p.Val185Leu) rs749351255
NM_000218.3(KCNQ1):c.560T>G (p.Leu187Arg) rs199473399
NM_000218.3(KCNQ1):c.562T>C (p.Trp188Arg)
NM_000218.3(KCNQ1):c.563G>C (p.Trp188Ser) rs1240024663
NM_000218.3(KCNQ1):c.575G>C (p.Arg192Pro) rs199472698
NM_000218.3(KCNQ1):c.575G>T (p.Arg192Leu) rs199472698
NM_000218.3(KCNQ1):c.580G>C (p.Ala194Pro) rs199472699
NM_000218.3(KCNQ1):c.581C>T (p.Ala194Val) rs2133727494
NM_000218.3(KCNQ1):c.583C>G (p.Arg195Gly)
NM_000218.3(KCNQ1):c.584G>C (p.Arg195Pro) rs138362632
NM_000218.3(KCNQ1):c.587A>C (p.Lys196Thr) rs794728509
NM_000218.3(KCNQ1):c.590C>A (p.Pro197His) rs200108320
NM_000218.3(KCNQ1):c.599T>A (p.Ile200Asn) rs2133727600
NM_000218.3(KCNQ1):c.605A>T (p.Asp202Val) rs794728569
NM_000218.3(KCNQ1):c.630G>A (p.Met210Ile) rs776811872
NM_000218.3(KCNQ1):c.642C>G (p.Cys214Trp) rs775479779
NM_000218.3(KCNQ1):c.64G>T (p.Gly22Cys)
NM_000218.3(KCNQ1):c.650C>T (p.Ser217Phe) rs886048163
NM_000218.3(KCNQ1):c.652A>G (p.Lys218Glu) rs36210419
NM_000218.3(KCNQ1):c.653A>G (p.Lys218Arg) rs1848331549
NM_000218.3(KCNQ1):c.656G>A (p.Gly219Glu)
NM_000218.3(KCNQ1):c.661G>A (p.Val221Met)
NM_000218.3(KCNQ1):c.667G>A (p.Ala223Thr)
NM_000218.3(KCNQ1):c.66C>T (p.Gly22=) rs886048162
NM_000218.3(KCNQ1):c.677C>T (p.Ala226Val) rs199472707
NM_000218.3(KCNQ1):c.679A>G (p.Ile227Val) rs794728511
NM_000218.3(KCNQ1):c.682A>T (p.Arg228Trp)
NM_000218.3(KCNQ1):c.683+4C>T rs554698776
NM_000218.3(KCNQ1):c.683+5G>C rs397508122
NM_000218.3(KCNQ1):c.684-12T>A
NM_000218.3(KCNQ1):c.686G>A (p.Gly229Asp) rs199472708
NM_000218.3(KCNQ1):c.686G>T (p.Gly229Val) rs199472708
NM_000218.3(KCNQ1):c.687C>T (p.Gly229=)
NM_000218.3(KCNQ1):c.68C>T (p.Ala23Val)
NM_000218.3(KCNQ1):c.701A>G (p.Gln234Arg) rs794728570
NM_000218.3(KCNQ1):c.701A>T (p.Gln234Leu) rs794728570
NM_000218.3(KCNQ1):c.707T>C (p.Leu236Pro) rs794728512
NM_000218.3(KCNQ1):c.720C>A (p.His240Gln)
NM_000218.3(KCNQ1):c.733G>A (p.Gly245Arg) rs1060500628
NM_000218.3(KCNQ1):c.749T>C (p.Leu250Pro) rs199472715
NM_000218.3(KCNQ1):c.74G>C (p.Arg25Pro) rs1589884210
NM_000218.3(KCNQ1):c.757T>C (p.Ser253Pro) rs764781840
NM_000218.3(KCNQ1):c.770T>G (p.Ile257Ser) rs2133730726
NM_000218.3(KCNQ1):c.781-6G>T rs886048164
NM_000218.3(KCNQ1):c.787A>G (p.Ile263Val)
NM_000218.3(KCNQ1):c.791C>G (p.Thr264Ser) rs566907093
NM_000218.3(KCNQ1):c.7G>C (p.Ala3Pro)
NM_000218.3(KCNQ1):c.800A>T (p.Tyr267Phe) rs886039033
NM_000218.3(KCNQ1):c.804C>A (p.Ile268=) rs373227792
NM_000218.3(KCNQ1):c.836T>G (p.Phe279Cys) rs1589958473
NM_000218.3(KCNQ1):c.83C>G (p.Ala28Gly) rs767089696
NM_000218.3(KCNQ1):c.851A>G (p.Glu284Gly) rs1848362105
NM_000218.3(KCNQ1):c.858C>A (p.Asp286Glu) rs760047145
NM_000218.3(KCNQ1):c.859G>A (p.Ala287Thr) rs765665086
NM_000218.3(KCNQ1):c.859G>T (p.Ala287Ser) rs765665086
NM_000218.3(KCNQ1):c.85G>A (p.Gly29Ser)
NM_000218.3(KCNQ1):c.860C>T (p.Ala287Val) rs199472735
NM_000218.3(KCNQ1):c.865A>G (p.Asn289Asp)
NM_000218.3(KCNQ1):c.869A>G (p.Glu290Gly)
NM_000218.3(KCNQ1):c.889G>C (p.Gly297Arg) rs34320941
NM_000218.3(KCNQ1):c.89T>C (p.Leu30Pro) rs1846015467
NM_000218.3(KCNQ1):c.901G>T (p.Asp301Tyr)
NM_000218.3(KCNQ1):c.902A>T (p.Asp301Val) rs1554893260
NM_000218.3(KCNQ1):c.914G>T (p.Trp305Leu) rs120074186
NM_000218.3(KCNQ1):c.917G>A (p.Gly306Glu) rs199472742
NM_000218.3(KCNQ1):c.919G>T (p.Val307Leu) rs120074195
NM_000218.3(KCNQ1):c.920T>A (p.Val307Glu) rs1589958619
NM_000218.3(KCNQ1):c.921+4A>G rs2133733137
NM_000218.3(KCNQ1):c.922-3C>A rs794728515
NM_000218.3(KCNQ1):c.932C>T (p.Thr311Ile) rs199472746
NM_000218.3(KCNQ1):c.937A>T (p.Ile313Phe) rs1589965249
NM_000218.3(KCNQ1):c.955G>A (p.Val319Met) rs1310931869
NM_000218.3(KCNQ1):c.962A>C (p.Gln321Pro) rs794728518
NM_000218.3(KCNQ1):c.970G>A (p.Val324Ile) rs1848536066
NM_000218.3(KCNQ1):c.970G>T (p.Val324Phe) rs1848536066
NM_000218.3(KCNQ1):c.986C>T (p.Ala329Val) rs200436951
NM_000218.3(KCNQ1):c.992G>A (p.Cys331Tyr) rs1848536656
NM_001406838.1(KCNQ1):c.478-12807_478-12805del rs2133726899

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