ClinVar Miner

List of variants in gene KCNQ1 reported as uncertain significance

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Gene type:
ClinVar version:
Total variants: 229
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HGVS dbSNP
NC_000011.10:g.(?_2570608)_(2573006_?)dup
NM_000218.2(KCNQ1):c.*1025G>C rs181226788
NM_000218.2(KCNQ1):c.*1055C>T rs375155898
NM_000218.2(KCNQ1):c.*1088G>C rs886048177
NM_000218.2(KCNQ1):c.*160C>A rs886048167
NM_000218.2(KCNQ1):c.*171G>A rs886048168
NM_000218.2(KCNQ1):c.*26C>A rs886048166
NM_000218.2(KCNQ1):c.*292C>A rs886048169
NM_000218.2(KCNQ1):c.*391G>A rs774059974
NM_000218.2(KCNQ1):c.*392A>C rs868129989
NM_000218.2(KCNQ1):c.*398C>T rs886048170
NM_000218.2(KCNQ1):c.*47A>C rs754931159
NM_000218.2(KCNQ1):c.*539G>C rs886048171
NM_000218.2(KCNQ1):c.*554T>G rs886048172
NM_000218.2(KCNQ1):c.*581T>C rs765566577
NM_000218.2(KCNQ1):c.*633G>A rs886048173
NM_000218.2(KCNQ1):c.*652G>A rs886048174
NM_000218.2(KCNQ1):c.*712G>A rs745447199
NM_000218.2(KCNQ1):c.*877C>G rs763163556
NM_000218.2(KCNQ1):c.*887_*889delTCA rs886048175
NM_000218.2(KCNQ1):c.*897G>T rs561861522
NM_000218.2(KCNQ1):c.-38C>T rs886048160
NM_000218.2(KCNQ1):c.-5T>C rs532941548
NM_000218.2(KCNQ1):c.-69G>A rs886048159
NM_000218.2(KCNQ1):c.1011C>G (p.Ile337Met) rs794728521
NM_000218.2(KCNQ1):c.1016T>A (p.Phe339Tyr) rs199472759
NM_000218.2(KCNQ1):c.1025T>A (p.Leu342His) rs794728522
NM_000218.2(KCNQ1):c.1029_1031dupAGC (p.Ala344_Gly345insAla) rs794728559
NM_000218.2(KCNQ1):c.1031C>A (p.Ala344Glu) rs199472763
NM_000218.2(KCNQ1):c.1032+5dupG rs794728560
NM_000218.2(KCNQ1):c.1069C>G (p.Gln357Glu) rs1554894743
NM_000218.2(KCNQ1):c.1105C>G (p.Pro369Ala) rs794728525
NM_000218.2(KCNQ1):c.1109C>T (p.Ala370Val)
NM_000218.2(KCNQ1):c.1111G>C (p.Ala371Pro) rs199473412
NM_000218.2(KCNQ1):c.1121T>A (p.Leu374His) rs199472767
NM_000218.2(KCNQ1):c.1128+4C>T rs201590918
NM_000218.2(KCNQ1):c.1128+5G>A rs76735093
NM_000218.2(KCNQ1):c.1128+5G>T
NM_000218.2(KCNQ1):c.1129-8G>A rs200612600
NM_000218.2(KCNQ1):c.1135T>C (p.Trp379Arg) rs199472768
NM_000218.2(KCNQ1):c.1138A>T (p.Arg380Trp)
NM_000218.2(KCNQ1):c.114G>A (p.Leu38=)
NM_000218.2(KCNQ1):c.1165T>G (p.Ser389Ala)
NM_000218.2(KCNQ1):c.1165_1166invTC (p.Ser389Asp)
NM_000218.2(KCNQ1):c.1170_1171insTCC (p.Ser390_Thr391insSer) rs1064793160
NM_000218.2(KCNQ1):c.1178A>T (p.Lys393Met) rs199472775
NM_000218.2(KCNQ1):c.1179G>T (p.Lys393Asn) rs12720457
NM_000218.2(KCNQ1):c.1189C>T (p.Arg397Trp) rs199472776
NM_000218.2(KCNQ1):c.1193A>G (p.Lys398Arg) rs199472777
NM_000218.2(KCNQ1):c.1196C>G (p.Ala399Gly) rs876657836
NM_000218.2(KCNQ1):c.1198C>G (p.Pro400Ala) rs1489132337
NM_000218.2(KCNQ1):c.1201C>T (p.Arg401Trp) rs766616232
NM_000218.2(KCNQ1):c.1202G>A (p.Arg401Gln) rs542628042
NM_000218.2(KCNQ1):c.1205G>A (p.Ser402Asn) rs878853753
NM_000218.2(KCNQ1):c.1251+13C>T rs201364493
NM_000218.2(KCNQ1):c.1251+5G>A
NM_000218.2(KCNQ1):c.1256A>G (p.Lys419Arg)
NM_000218.2(KCNQ1):c.1286A>G (p.Asn429Ser)
NM_000218.2(KCNQ1):c.1295C>T (p.Thr432Ile) rs751644427
NM_000218.2(KCNQ1):c.1321C>T (p.Pro441Ser) rs199473475
NM_000218.2(KCNQ1):c.1340C>A (p.Pro447His) rs143149582
NM_000218.2(KCNQ1):c.1343C>A (p.Pro448Gln) rs12720449
NM_000218.2(KCNQ1):c.1343C>T (p.Pro448Leu) rs12720449
NM_000218.2(KCNQ1):c.1349A>G (p.Glu450Gly) rs1057518902
NM_000218.2(KCNQ1):c.1351C>T (p.Arg451Trp) rs199472782
NM_000218.2(KCNQ1):c.1352G>A (p.Arg451Gln) rs199472781
NM_000218.2(KCNQ1):c.1354C>T (p.Arg452Trp) rs140452381
NM_000218.2(KCNQ1):c.1355G>A (p.Arg452Gln) rs145229963
NM_000218.2(KCNQ1):c.136G>A (p.Ala46Thr) rs199473671
NM_000218.2(KCNQ1):c.1375G>A (p.Asp459Asn)
NM_000218.2(KCNQ1):c.1378G>A (p.Gly460Ser) rs199472783
NM_000218.2(KCNQ1):c.1388G>C (p.Ser463Thr) rs184636161
NM_000218.2(KCNQ1):c.1515-7_1515-6insGC rs1554919460
NM_000218.2(KCNQ1):c.1520G>A (p.Arg507Gln) rs369571296
NM_000218.2(KCNQ1):c.1532G>A (p.Arg511Gln) rs753962384
NM_000218.2(KCNQ1):c.1537A>T (p.Thr513Ser) rs778975231
NM_000218.2(KCNQ1):c.1541T>C (p.Ile514Thr) rs199472786
NM_000218.2(KCNQ1):c.1552C>G (p.Arg518Gly) rs17215500
NM_000218.2(KCNQ1):c.1552C>T (p.Arg518Ter) rs17215500
NM_000218.2(KCNQ1):c.1553G>A (p.Arg518Gln) rs145974930
NM_000218.2(KCNQ1):c.1553G>C (p.Arg518Pro) rs145974930
NM_000218.2(KCNQ1):c.1555C>T (p.Arg519Cys) rs199472787
NM_000218.2(KCNQ1):c.1556G>A (p.Arg519His) rs199472788
NM_000218.2(KCNQ1):c.1576A>G (p.Lys526Glu) rs199472792
NM_000218.2(KCNQ1):c.1578G>T (p.Lys526Asn) rs1554919483
NM_000218.2(KCNQ1):c.1589A>C (p.Gln530Pro) rs1057524487
NM_000218.2(KCNQ1):c.1597C>T (p.Arg533Trp) rs199472793
NM_000218.2(KCNQ1):c.1598G>A (p.Arg533Gln) rs574321120
NM_000218.2(KCNQ1):c.160_168dupATCGCGCCC (p.Pro56_Gly57insIleAlaPro) rs397515877
NM_000218.2(KCNQ1):c.1616G>A (p.Arg539Gln) rs199472794
NM_000218.2(KCNQ1):c.1621G>A (p.Val541Ile) rs199472796
NM_000218.2(KCNQ1):c.1631A>T (p.Gln544Leu) rs794728574
NM_000218.2(KCNQ1):c.1685+9G>A rs545535640
NM_000218.2(KCNQ1):c.1697C>A (p.Ser566Tyr) rs199472804
NM_000218.2(KCNQ1):c.1709C>T (p.Pro570Leu)
NM_000218.2(KCNQ1):c.1720A>G (p.Ile574Val)
NM_000218.2(KCNQ1):c.1726G>A (p.Val576Ile) rs750409379
NM_000218.2(KCNQ1):c.1732G>A (p.Glu578Lys) rs1057517750
NM_000218.2(KCNQ1):c.1733-7C>G
NM_000218.2(KCNQ1):c.1748G>A (p.Arg583His) rs199473482
NM_000218.2(KCNQ1):c.175C>G (p.Pro59Ala) rs1554958059
NM_000218.2(KCNQ1):c.1768G>A (p.Ala590Thr) rs199472813
NM_000218.2(KCNQ1):c.1768G>C (p.Ala590Pro) rs199472813
NM_000218.2(KCNQ1):c.1781G>C (p.Arg594Pro) rs199472815
NM_000218.2(KCNQ1):c.1794+12C>T rs727505084
NM_000218.2(KCNQ1):c.1795_1803dup (p.Gln601_Leu602insValThrGln) rs1554932647
NM_000218.2(KCNQ1):c.1799C>T (p.Thr600Met) rs34516117
NM_000218.2(KCNQ1):c.1811A>T (p.Gln604Leu) rs794728541
NM_000218.2(KCNQ1):c.181C>A (p.Pro61Thr) rs1273257287
NM_000218.2(KCNQ1):c.1822C>G (p.Leu608Val) rs1554932663
NM_000218.2(KCNQ1):c.1826_1828delTCA (p.Ile609del) rs1554932667
NM_000218.2(KCNQ1):c.1829C>A (p.Thr610Asn) rs794728542
NM_000218.2(KCNQ1):c.1831G>A (p.Asp611Asn) rs147445322
NM_000218.2(KCNQ1):c.1836G>A (p.Met612Ile) rs878853756
NM_000218.2(KCNQ1):c.1855T>A (p.Leu619Met) rs199472819
NM_000218.2(KCNQ1):c.1861G>A (p.Gly621Ser) rs199472820
NM_000218.2(KCNQ1):c.1875C>T (p.Pro625=) rs112113213
NM_000218.2(KCNQ1):c.1876G>A (p.Gly626Ser) rs199472821
NM_000218.2(KCNQ1):c.1885G>A (p.Gly629Ser) rs775608046
NM_000218.2(KCNQ1):c.1902C>T (p.Gly634=) rs774046442
NM_000218.2(KCNQ1):c.1903G>A (p.Gly635Arg) rs199473484
NM_000218.2(KCNQ1):c.190C>T (p.Pro64Ser) rs1554958062
NM_000218.2(KCNQ1):c.1926C>G (p.Cys642Trp) rs12720454
NM_000218.2(KCNQ1):c.192_200dup (p.Ala68_Ala69insSerProAla)
NM_000218.2(KCNQ1):c.192_221del30 (p.Ala65_Pro74del) rs781335353
NM_000218.2(KCNQ1):c.1970A>G (p.Asn657Ser) rs552087428
NM_000218.2(KCNQ1):c.1973C>A (p.Thr658Asn) rs377661455
NM_000218.2(KCNQ1):c.1979C>A (p.Pro660His) rs886048165
NM_000218.2(KCNQ1):c.1986C>G (p.Tyr662Ter) rs11601907
NM_000218.2(KCNQ1):c.1996A>C (p.Thr666Pro)
NM_000218.2(KCNQ1):c.1999G>A (p.Val667Met) rs776119582
NM_000218.2(KCNQ1):c.19C>T (p.Pro7Ser) rs199473443
NM_000218.2(KCNQ1):c.2011G>A (p.Gly671Ser)
NM_000218.2(KCNQ1):c.2017G>A (p.Asp673Asn) rs866169644
NM_000218.2(KCNQ1):c.208C>A (p.Pro70Thr) rs794728548
NM_000218.2(KCNQ1):c.211_219delGCCGCGCCC (p.Ala71_Pro73del) rs397508107
NM_000218.2(KCNQ1):c.217C>A (p.Pro73Thr) rs199472676
NM_000218.2(KCNQ1):c.230C>T (p.Ser77Phe) rs774349962
NM_000218.2(KCNQ1):c.242C>T (p.Pro81Leu) rs771921468
NM_000218.2(KCNQ1):c.251C>G (p.Pro84Arg) rs794728551
NM_000218.2(KCNQ1):c.274T>C (p.Ser92Pro)
NM_000218.2(KCNQ1):c.296C>G (p.Pro99Arg) rs370435862
NM_000218.2(KCNQ1):c.29C>A (p.Ala10Asp) rs886048161
NM_000218.2(KCNQ1):c.317T>A (p.Val106Asp)
NM_000218.2(KCNQ1):c.31G>A (p.Glu11Lys) rs959449103
NM_000218.2(KCNQ1):c.328G>A (p.Val110Ile) rs199472677
NM_000218.2(KCNQ1):c.347G>A (p.Arg116His) rs727504506
NM_000218.2(KCNQ1):c.355G>C (p.Gly119Arg)
NM_000218.2(KCNQ1):c.377A>T (p.His126Leu) rs794728579
NM_000218.2(KCNQ1):c.386+14C>T rs370023636
NM_000218.2(KCNQ1):c.386+16216G>A rs201090517
NM_000218.2(KCNQ1):c.387-5T>A rs794728549
NM_000218.2(KCNQ1):c.387-7C>T rs201682200
NM_000218.2(KCNQ1):c.38A>G (p.Lys13Arg) rs1060500622
NM_000218.2(KCNQ1):c.392T>C (p.Leu131Pro) rs794728550
NM_000218.2(KCNQ1):c.420C>T (p.Ser140=)
NM_000218.2(KCNQ1):c.428C>T (p.Ser143Phe) rs786204083
NM_000218.2(KCNQ1):c.430A>G (p.Thr144Ala) rs199473451
NM_000218.2(KCNQ1):c.458C>T (p.Thr153Met) rs143709408
NM_000218.2(KCNQ1):c.484G>A (p.Val162Met) rs199472692
NM_000218.2(KCNQ1):c.493G>A (p.Val165Met) rs1085307580
NM_000218.2(KCNQ1):c.493_495dupGTG (p.Val165_Phe166insVal) rs1554892886
NM_000218.2(KCNQ1):c.506C>T (p.Thr169Met) rs199472693
NM_000218.2(KCNQ1):c.514G>A (p.Val172Met) rs199472694
NM_000218.2(KCNQ1):c.523C>T (p.Leu175Phe) rs1131692322
NM_000218.2(KCNQ1):c.532G>A (p.Ala178Thr) rs120074177
NM_000218.2(KCNQ1):c.535G>A (p.Gly179Ser) rs199473394
NM_000218.2(KCNQ1):c.541C>T (p.Arg181Cys) rs199473395
NM_000218.2(KCNQ1):c.556G>A (p.Gly186Ser) rs199473398
NM_000218.2(KCNQ1):c.560T>C (p.Leu187Pro) rs199473399
NM_000218.2(KCNQ1):c.569G>C (p.Arg190Pro) rs120074178
NM_000218.2(KCNQ1):c.574C>T (p.Arg192Cys)
NM_000218.2(KCNQ1):c.575G>A (p.Arg192His) rs199472698
NM_000218.2(KCNQ1):c.580G>C (p.Ala194Pro) rs199472699
NM_000218.2(KCNQ1):c.583C>T (p.Arg195Trp) rs150172393
NM_000218.2(KCNQ1):c.584G>A (p.Arg195Gln) rs138362632
NM_000218.2(KCNQ1):c.587A>C (p.Lys196Thr) rs794728509
NM_000218.2(KCNQ1):c.590C>A (p.Pro197His) rs200108320
NM_000218.2(KCNQ1):c.590C>T (p.Pro197Leu) rs200108320
NM_000218.2(KCNQ1):c.5C>T (p.Ala2Val) rs199473442
NM_000218.2(KCNQ1):c.629T>C (p.Met210Thr) rs886038994
NM_000218.2(KCNQ1):c.642C>T (p.Cys214=) rs775479779
NM_000218.2(KCNQ1):c.643G>A (p.Val215Met) rs17215479
NM_000218.2(KCNQ1):c.644T>G (p.Val215Gly) rs368011737
NM_000218.2(KCNQ1):c.648C>A (p.Gly216=) rs146350010
NM_000218.2(KCNQ1):c.64G>C (p.Gly22Arg) rs794728545
NM_000218.2(KCNQ1):c.650C>T (p.Ser217Phe) rs886048163
NM_000218.2(KCNQ1):c.652A>G (p.Lys218Glu) rs36210419
NM_000218.2(KCNQ1):c.66C>T (p.Gly22=) rs886048162
NM_000218.2(KCNQ1):c.677C>T (p.Ala226Val) rs199472707
NM_000218.2(KCNQ1):c.701A>C (p.Gln234Pro) rs794728570
NM_000218.2(KCNQ1):c.701A>G (p.Gln234Arg) rs794728570
NM_000218.2(KCNQ1):c.701A>T (p.Gln234Leu) rs794728570
NM_000218.2(KCNQ1):c.721G>A (p.Val241Ile) rs199956744
NM_000218.2(KCNQ1):c.721G>T (p.Val241Phe) rs199956744
NM_000218.2(KCNQ1):c.727C>A (p.Arg243Ser) rs199472713
NM_000218.2(KCNQ1):c.742T>C (p.Trp248Arg) rs199473459
NM_000218.2(KCNQ1):c.757T>C (p.Ser253Pro) rs764781840
NM_000218.2(KCNQ1):c.759C>T (p.Ser253=) rs752457145
NM_000218.2(KCNQ1):c.781-6G>T rs886048164
NM_000218.2(KCNQ1):c.796C>A (p.Leu266Met)
NM_000218.2(KCNQ1):c.800A>T (p.Tyr267Phe) rs886039033
NM_000218.2(KCNQ1):c.802A>G (p.Ile268Val) rs757421492
NM_000218.2(KCNQ1):c.803T>G (p.Ile268Ser) rs199472725
NM_000218.2(KCNQ1):c.818T>C (p.Leu273Pro) rs199472727
NM_000218.2(KCNQ1):c.81C>A (p.Ser27Arg) rs794728546
NM_000218.2(KCNQ1):c.820A>G (p.Ile274Val) rs199472728
NM_000218.2(KCNQ1):c.839T>A (p.Val280Glu) rs199473462
NM_000218.2(KCNQ1):c.847G>C (p.Ala283Pro) rs1060500627
NM_000218.2(KCNQ1):c.848C>G (p.Ala283Gly) rs199473463
NM_000218.2(KCNQ1):c.850G>A (p.Glu284Lys) rs199472734
NM_000218.2(KCNQ1):c.860C>A (p.Ala287Glu) rs199472735
NM_000218.2(KCNQ1):c.862G>A (p.Val288Met) rs946704016
NM_000218.2(KCNQ1):c.868G>A (p.Glu290Lys) rs199473464
NM_000218.2(KCNQ1):c.875G>A (p.Gly292Asp) rs199472736
NM_000218.2(KCNQ1):c.877C>T (p.Arg293Cys) rs199472737
NM_000218.2(KCNQ1):c.879C>A (p.Arg293=) rs181106858
NM_000218.2(KCNQ1):c.880G>A (p.Val294Met)
NM_000218.2(KCNQ1):c.898G>A (p.Ala300Thr) rs120074187
NM_000218.2(KCNQ1):c.899C>A (p.Ala300Glu) rs1001293702
NM_000218.2(KCNQ1):c.8C>G (p.Ala3Gly) rs794728543
NM_000218.2(KCNQ1):c.905C>A (p.Ala302Glu) rs193922365
NM_000218.2(KCNQ1):c.922-3C>A rs794728515
NM_000218.2(KCNQ1):c.935_937delCCA (p.Thr312del)
NM_000218.2(KCNQ1):c.953A>C (p.Lys318Thr) rs794728516
NM_000218.2(KCNQ1):c.958C>T (p.Pro320Ser) rs199472753
NM_000218.2(KCNQ1):c.962A>C (p.Gln321Pro) rs794728518
NM_000218.2(KCNQ1):c.985G>A (p.Ala329Thr) rs543428644
NM_181798.1(KCNQ1):c.875A>C (p.Lys292Thr) rs757328965

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