ClinVar Miner

List of variants in gene KCNQ1 reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 277
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HGVS dbSNP
NC_000011.9:g.(?_2549138)_(2549268_?)del
NC_000011.9:g.(?_2591838)_(2594236_?)del
NC_000011.9:g.(?_2591838)_(2594236_?)dup
NC_000011.9:g.(?_2591858)_(2594216_?)del
NC_000011.9:g.(?_2604645)_(2610104_?)del
NC_000011.9:g.(?_2604665)_(2604775_?)del
NC_000011.9:g.(?_2606442)_(2608922_?)del
NC_000011.9:g.(?_2608790)_(2608932_?)del
NC_000011.9:g.(?_2797184)_(2798268_?)del
NC_000011.9:g.(?_2797190)_(2798262_?)del
NM_000218.2(KCNQ1):c.105C>A (p.Pro35=) rs968695655
NM_000218.2(KCNQ1):c.114G>A (p.Leu38=) rs1386513213
NM_000218.2(KCNQ1):c.144C>G (p.Gly48=) rs1060503985
NM_000218.2(KCNQ1):c.153C>G (p.Tyr51Ter) rs397508096
NM_000218.2(KCNQ1):c.160_168dup (p.Ile54_Pro56dup) rs397515877
NM_000218.2(KCNQ1):c.1686delG rs794728562
NM_000218.2(KCNQ1):c.1795_1803dup (p.Gln601_Leu602insValThrGln) rs1554932647
NM_000218.2(KCNQ1):c.192_200dup (p.Ser66_Ala68dup) rs750499842
NM_000218.2(KCNQ1):c.1A>T (p.Met1Leu) rs199473441
NM_000218.2(KCNQ1):c.200_210del (p.Pro67fs) rs1435990592
NM_000218.2(KCNQ1):c.200del (p.Pro67fs) rs1060500623
NM_000218.2(KCNQ1):c.202_210GCCGCGCCC[1] (p.68_70AAP[1]) rs397508107
NM_000218.2(KCNQ1):c.207G>T (p.Ala69=) rs587781009
NM_000218.2(KCNQ1):c.225T>C (p.Val75=) rs367817352
NM_000218.2(KCNQ1):c.255G>A (p.Val85=) rs766078716
NM_000218.2(KCNQ1):c.274T>C (p.Ser92Pro)
NM_000218.2(KCNQ1):c.296C>G (p.Pro99Arg) rs370435862
NM_000218.2(KCNQ1):c.317T>A (p.Val106Asp) rs1565023268
NM_000218.2(KCNQ1):c.328G>A (p.Val110Ile) rs199472677
NM_000218.2(KCNQ1):c.355G>C (p.Gly119Arg) rs1325525794
NM_000218.2(KCNQ1):c.377A>T (p.His126Leu) rs794728579
NM_000218.2(KCNQ1):c.382_383dup (p.Val129fs) rs1554958132
NM_000218.2(KCNQ1):c.38A>G (p.Lys13Arg) rs1060500622
NM_000218.2(KCNQ1):c.51G>A (p.Trp17Ter)
NM_000218.2(KCNQ1):c.64G>C (p.Gly22Arg) rs794728545
NM_000218.2(KCNQ1):c.94A>T (p.Lys32Ter) rs1554958043
NM_181798.1(KCNQ1):c.1002T>C (p.Tyr334=) rs794728527
NM_181798.1(KCNQ1):c.1005C>T (p.Asp335=) rs749631604
NM_181798.1(KCNQ1):c.1007G>C (p.Ser336Thr) rs184636161
NM_181798.1(KCNQ1):c.103G>A (p.Val35Met) rs199472692
NM_181798.1(KCNQ1):c.109_111GTG[3] (p.Val38dup) rs1554892886
NM_181798.1(KCNQ1):c.1134-2_1134-1del rs1564886323
NM_181798.1(KCNQ1):c.1134-7_1134-6insGC rs1554919460
NM_181798.1(KCNQ1):c.1139G>A (p.Arg380Gln) rs369571296
NM_181798.1(KCNQ1):c.114_116del (p.Phe40del)
NM_181798.1(KCNQ1):c.1151G>A (p.Arg384Gln) rs753962384
NM_181798.1(KCNQ1):c.1171C>G (p.Arg391Gly) rs17215500
NM_181798.1(KCNQ1):c.1171C>T (p.Arg391Ter) rs17215500
NM_181798.1(KCNQ1):c.1175G>A (p.Arg392His) rs199472788
NM_181798.1(KCNQ1):c.1178T>G (p.Met393Arg) rs199473479
NM_181798.1(KCNQ1):c.1190T>G (p.Val397Gly) rs199472790
NM_181798.1(KCNQ1):c.1207C>T (p.Gln403Ter) rs397508097
NM_181798.1(KCNQ1):c.1210-5C>T rs1311166904
NM_181798.1(KCNQ1):c.1215G>A (p.Ala405=) rs558452873
NM_181798.1(KCNQ1):c.1216C>T (p.Arg406Trp) rs199472793
NM_181798.1(KCNQ1):c.121G>A (p.Gly41Arg) rs179489
NM_181798.1(KCNQ1):c.1227C>T (p.Tyr409=) rs138551008
NM_181798.1(KCNQ1):c.1234C>T (p.Arg412Trp) rs199472795
NM_181798.1(KCNQ1):c.1235G>A (p.Arg412Gln) rs199472794
NM_181798.1(KCNQ1):c.1256C>T (p.Ser419Leu) rs199473480
NM_181798.1(KCNQ1):c.125C>T (p.Thr42Met) rs199472693
NM_181798.1(KCNQ1):c.1282C>T (p.Arg428Cys) rs120074185
NM_181798.1(KCNQ1):c.1283G>A (p.Arg428His) rs199472800
NM_181798.1(KCNQ1):c.1284C>T (p.Arg428=) rs878853755
NM_181798.1(KCNQ1):c.1304+1G>A rs794728531
NM_181798.1(KCNQ1):c.1305-2A>G rs878854350
NM_181798.1(KCNQ1):c.1316C>A (p.Ser439Tyr) rs199472804
NM_181798.1(KCNQ1):c.1316C>T (p.Ser439Phe) rs199472804
NM_181798.1(KCNQ1):c.1319T>C (p.Ile440Thr) rs199472805
NM_181798.1(KCNQ1):c.1321G>C (p.Gly441Arg)
NM_181798.1(KCNQ1):c.1326G>A (p.Lys442=) rs1288914203
NM_181798.1(KCNQ1):c.132C>A (p.Tyr44Ter) rs139042529
NM_181798.1(KCNQ1):c.132C>G (p.Tyr44Ter) rs139042529
NM_181798.1(KCNQ1):c.132C>T (p.Tyr44=) rs139042529
NM_181798.1(KCNQ1):c.1335G>A (p.Leu445=) rs886039093
NM_181798.1(KCNQ1):c.1339A>G (p.Ile447Val) rs761947465
NM_181798.1(KCNQ1):c.133G>A (p.Val45Met) rs199472694
NM_181798.1(KCNQ1):c.133G>C (p.Val45Leu)
NM_181798.1(KCNQ1):c.1352-1G>C rs878854348
NM_181798.1(KCNQ1):c.1352-7C>G
NM_181798.1(KCNQ1):c.1367G>A (p.Arg456His) rs199473482
NM_181798.1(KCNQ1):c.1368C>T (p.Arg456=) rs200670744
NM_181798.1(KCNQ1):c.1379C>T (p.Thr460Met) rs120074189
NM_181798.1(KCNQ1):c.1380G>A (p.Thr460=) rs148794853
NM_181798.1(KCNQ1):c.1385G>A (p.Gly462Asp) rs120074190
NM_181798.1(KCNQ1):c.1399C>T (p.Arg467Ter) rs794728537
NM_181798.1(KCNQ1):c.139C>T (p.Arg47Cys) rs199472696
NM_181798.1(KCNQ1):c.1400G>A (p.Arg467Gln) rs199472815
NM_181798.1(KCNQ1):c.1400G>C (p.Arg467Pro) rs199472815
NM_181798.1(KCNQ1):c.1402del (p.Arg467_Val468insTer) rs765169367
NM_181798.1(KCNQ1):c.1413+10C>G rs558507741
NM_181798.1(KCNQ1):c.1413+10C>T rs558507741
NM_181798.1(KCNQ1):c.1413G>A (p.Lys471=)
NM_181798.1(KCNQ1):c.1414-4G>A rs769865006
NM_181798.1(KCNQ1):c.1418C>T (p.Thr473Met) rs34516117
NM_181798.1(KCNQ1):c.1419G>A (p.Thr473=) rs147091980
NM_181798.1(KCNQ1):c.143T>C (p.Leu48Pro)
NM_181798.1(KCNQ1):c.143_153del (p.Leu48fs) rs763462603
NM_181798.1(KCNQ1):c.144C>T (p.Leu48=) rs751902200
NM_181798.1(KCNQ1):c.1450G>A (p.Asp484Asn) rs147445322
NM_181798.1(KCNQ1):c.1455G>A (p.Met485Ile) rs878853756
NM_181798.1(KCNQ1):c.1479C>T (p.His493=) rs139893266
NM_181798.1(KCNQ1):c.1480G>A (p.Gly494Ser) rs199472820
NM_181798.1(KCNQ1):c.1494C>T (p.Pro498=) rs112113213
NM_181798.1(KCNQ1):c.1512del (p.Arg505fs) rs397508104
NM_181798.1(KCNQ1):c.1512dup (p.Arg505fs) rs397508104
NM_181798.1(KCNQ1):c.1513dup (p.Arg505fs) rs397508105
NM_181798.1(KCNQ1):c.151G>A (p.Ala51Thr) rs120074177
NM_181798.1(KCNQ1):c.1521C>T (p.Gly507=) rs774046442
NM_181798.1(KCNQ1):c.1525dup (p.Ala509fs) rs1464992494
NM_181798.1(KCNQ1):c.1545C>T (p.Cys515=) rs12720454
NM_181798.1(KCNQ1):c.1546G>A (p.Gly516Ser) rs1800172
NM_181798.1(KCNQ1):c.1560C>T (p.Ser520=) rs1386852977
NM_181798.1(KCNQ1):c.1561G>A (p.Val521Ile) rs34150427
NM_181798.1(KCNQ1):c.1563C>T (p.Val521=) rs201698592
NM_181798.1(KCNQ1):c.15C>T (p.Ile5=) rs1400426641
NM_181798.1(KCNQ1):c.1605C>G (p.Tyr535Ter) rs11601907
NM_181798.1(KCNQ1):c.176G>A (p.Gly59Asp) rs794728568
NM_181798.1(KCNQ1):c.179T>C (p.Leu60Pro) rs199473399
NM_181798.1(KCNQ1):c.182G>C (p.Trp61Ser)
NM_181798.1(KCNQ1):c.186G>T (p.Gly62=) rs200669271
NM_181798.1(KCNQ1):c.186dup (p.Arg63fs) rs397508117
NM_181798.1(KCNQ1):c.188G>A (p.Arg63Gln) rs120074178
NM_181798.1(KCNQ1):c.188G>C (p.Arg63Pro) rs120074178
NM_181798.1(KCNQ1):c.188G>T (p.Arg63Leu) rs120074178
NM_181798.1(KCNQ1):c.192_196del (p.Arg65fs) rs397508118
NM_181798.1(KCNQ1):c.193C>T (p.Arg65Cys)
NM_181798.1(KCNQ1):c.194G>A (p.Arg65His) rs199472698
NM_181798.1(KCNQ1):c.202C>T (p.Arg68Trp) rs150172393
NM_181798.1(KCNQ1):c.203G>A (p.Arg68Gln) rs138362632
NM_181798.1(KCNQ1):c.204del (p.Lys69fs) rs397508120
NM_181798.1(KCNQ1):c.209C>A (p.Pro70His) rs200108320
NM_181798.1(KCNQ1):c.209C>T (p.Pro70Leu) rs200108320
NM_181798.1(KCNQ1):c.224-1G>C rs1564820372
NM_181798.1(KCNQ1):c.228C>T (p.Leu76=) rs1060503983
NM_181798.1(KCNQ1):c.231C>G (p.Ile77Met) rs199473455
NM_181798.1(KCNQ1):c.231C>T (p.Ile77=) rs199473455
NM_181798.1(KCNQ1):c.238G>A (p.Val80Met) rs75813654
NM_181798.1(KCNQ1):c.244T>C (p.Ser82Pro) rs199472705
NM_181798.1(KCNQ1):c.261C>T (p.Cys87=) rs775479779
NM_181798.1(KCNQ1):c.263T>G (p.Val88Gly) rs368011737
NM_181798.1(KCNQ1):c.267C>A (p.Gly89=) rs146350010
NM_181798.1(KCNQ1):c.293C>T (p.Ser98Leu) rs199473456
NM_181798.1(KCNQ1):c.296C>T (p.Ala99Val) rs199472707
NM_181798.1(KCNQ1):c.302+1G>A
NM_181798.1(KCNQ1):c.303-2A>C rs1564820729
NM_181798.1(KCNQ1):c.303-5C>T rs1212611138
NM_181798.1(KCNQ1):c.311G>A (p.Arg104His) rs199472709
NM_181798.1(KCNQ1):c.320A>G (p.Gln107Arg) rs794728570
NM_181798.1(KCNQ1):c.320A>T (p.Gln107Leu) rs794728570
NM_181798.1(KCNQ1):c.323T>A (p.Ile108Asn) rs199472710
NM_181798.1(KCNQ1):c.325del (p.Ile108_Leu109insTer)
NM_181798.1(KCNQ1):c.339C>T (p.His113=) rs28730754
NM_181798.1(KCNQ1):c.340G>T (p.Val114Phe) rs199956744
NM_181798.1(KCNQ1):c.343G>A (p.Asp115Asn) rs199472712
NM_181798.1(KCNQ1):c.343G>T (p.Asp115Tyr) rs199472712
NM_181798.1(KCNQ1):c.345C>A (p.Asp115Glu)
NM_181798.1(KCNQ1):c.346C>A (p.Arg116Ser) rs199472713
NM_181798.1(KCNQ1):c.346C>T (p.Arg116Cys) rs199472713
NM_181798.1(KCNQ1):c.348C>T (p.Arg116=) rs755104170
NM_181798.1(KCNQ1):c.352G>T (p.Gly118Ter) rs1060500628
NM_181798.1(KCNQ1):c.358_367del (p.Thr120fs) rs1564820786
NM_181798.1(KCNQ1):c.361T>C (p.Trp121Arg) rs199473459
NM_181798.1(KCNQ1):c.364_373del (p.Arg122fs) rs1060500626
NM_181798.1(KCNQ1):c.376T>C (p.Ser126Pro) rs764781840
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.395G>A (p.Arg132His) rs199472720
NM_181798.1(KCNQ1):c.400_401delinsTT (p.Glu134Leu) rs1060500621
NM_181798.1(KCNQ1):c.40G>A (p.Val14Met) rs199472687
NM_181798.1(KCNQ1):c.416T>C (p.Leu139Pro) rs199473460
NM_181798.1(KCNQ1):c.422T>G (p.Ile141Ser) rs199472725
NM_181798.1(KCNQ1):c.424G>A (p.Gly142Ser) rs120074193
NM_181798.1(KCNQ1):c.425G>A (p.Gly142Asp) rs120074194
NM_181798.1(KCNQ1):c.430C>T (p.Leu144=) rs189991547
NM_181798.1(KCNQ1):c.434G>A (p.Gly145Asp) rs199472726
NM_181798.1(KCNQ1):c.437T>C (p.Leu146Pro) rs199472727
NM_181798.1(KCNQ1):c.439A>G (p.Ile147Val) rs199472728
NM_181798.1(KCNQ1):c.449C>G (p.Ser150Trp) rs199472730
NM_181798.1(KCNQ1):c.449C>T (p.Ser150Leu) rs199472730
NM_181798.1(KCNQ1):c.453C>G (p.Tyr151Ter) rs1554893228
NM_181798.1(KCNQ1):c.455T>G (p.Phe152Cys)
NM_181798.1(KCNQ1):c.458T>A (p.Val153Glu) rs199473462
NM_181798.1(KCNQ1):c.459G>T (p.Val153=) rs1554893236
NM_181798.1(KCNQ1):c.466G>C (p.Ala156Pro) rs1060500627
NM_181798.1(KCNQ1):c.469G>A (p.Glu157Lys) rs199472734
NM_181798.1(KCNQ1):c.477C>T (p.Asp159=) rs760047145
NM_181798.1(KCNQ1):c.478G>A (p.Ala160Thr)
NM_181798.1(KCNQ1):c.47C>T (p.Ser16Phe) rs786204083
NM_181798.1(KCNQ1):c.489G>A (p.Glu163=) rs1438599984
NM_181798.1(KCNQ1):c.494G>A (p.Gly165Asp) rs199472736
NM_181798.1(KCNQ1):c.496C>T (p.Arg166Cys) rs199472737
NM_181798.1(KCNQ1):c.49A>G (p.Thr17Ala) rs199473451
NM_181798.1(KCNQ1):c.517G>A (p.Ala173Thr) rs120074187
NM_181798.1(KCNQ1):c.518C>A (p.Ala173Glu) rs1001293702
NM_181798.1(KCNQ1):c.519A>C (p.Ala173=) rs727504769
NM_181798.1(KCNQ1):c.524C>A (p.Ala175Glu) rs193922365
NM_181798.1(KCNQ1):c.533G>A (p.Trp178Ter) rs120074186
NM_181798.1(KCNQ1):c.540+7C>T rs370506451
NM_181798.1(KCNQ1):c.541-2A>G
NM_181798.1(KCNQ1):c.541-3C>A rs794728515
NM_181798.1(KCNQ1):c.54C>T (p.Ile18=) rs1800170
NM_181798.1(KCNQ1):c.551_553CCA[1] (p.Thr185del) rs1564824264
NM_181798.1(KCNQ1):c.556A>T (p.Ile186Phe)
NM_181798.1(KCNQ1):c.577C>T (p.Pro193Ser) rs199472753
NM_181798.1(KCNQ1):c.584C>T (p.Thr195Met) rs199472755
NM_181798.1(KCNQ1):c.591C>T (p.Val197=) rs554518844
NM_181798.1(KCNQ1):c.592G>A (p.Gly198Arg) rs199472756
NM_181798.1(KCNQ1):c.592G>C (p.Gly198Arg)
NM_181798.1(KCNQ1):c.6-5T>A rs794728549
NM_181798.1(KCNQ1):c.6-7C>T rs201682200
NM_181798.1(KCNQ1):c.603C>T (p.Ile201=) rs140019543
NM_181798.1(KCNQ1):c.615C>T (p.Phe205=) rs1554894464
NM_181798.1(KCNQ1):c.618T>G (p.Ser206=) rs769230282
NM_181798.1(KCNQ1):c.632C>T (p.Ser211Phe) rs199472758
NM_181798.1(KCNQ1):c.633_635CTT[1] (p.Phe213del) rs397508068
NM_181798.1(KCNQ1):c.635T>A (p.Phe212Tyr) rs199472759
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.644T>A (p.Leu215His) rs794728522
NM_181798.1(KCNQ1):c.648_650dup (p.Ala217dup) rs794728559
NM_181798.1(KCNQ1):c.651+5G>T
NM_181798.1(KCNQ1):c.651G>A (p.Ala217=) rs1800171
NM_181798.1(KCNQ1):c.652-4C>T rs543599445
NM_181798.1(KCNQ1):c.652-5C>G rs764094211
NM_181798.1(KCNQ1):c.652G>C (p.Gly218Arg) rs199473471
NM_181798.1(KCNQ1):c.665C>A (p.Ser222Ter) rs199472765
NM_181798.1(KCNQ1):c.66C>T (p.Ala22=) rs146436765
NM_181798.1(KCNQ1):c.67G>A (p.Ala23Thr)
NM_181798.1(KCNQ1):c.685C>T (p.Gln229Ter) rs397508072
NM_181798.1(KCNQ1):c.688C>G (p.Gln230Glu) rs1554894743
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.704A>G (p.Lys235Arg) rs12720458
NM_181798.1(KCNQ1):c.715C>T (p.Arg239Trp) rs199473411
NM_181798.1(KCNQ1):c.726G>A (p.Pro242=) rs746037904
NM_181798.1(KCNQ1):c.729G>A (p.Ala243=) rs1805118
NM_181798.1(KCNQ1):c.730G>C (p.Ala244Pro) rs199473412
NM_181798.1(KCNQ1):c.740T>A (p.Leu247His) rs199472767
NM_181798.1(KCNQ1):c.745C>T (p.Gln249Ter) rs1564825414
NM_181798.1(KCNQ1):c.747+4C>T rs201590918
NM_181798.1(KCNQ1):c.754T>C (p.Trp252Arg) rs199472768
NM_181798.1(KCNQ1):c.757A>T (p.Arg253Trp)
NM_181798.1(KCNQ1):c.759G>T (p.Arg253Ser) rs199472771
NM_181798.1(KCNQ1):c.771C>T (p.Ala257=) rs144615901
NM_181798.1(KCNQ1):c.77C>T (p.Thr26Met) rs143709408
NM_181798.1(KCNQ1):c.784T>G (p.Ser262Ala)
NM_181798.1(KCNQ1):c.784_785inv (p.Ser262Asp)
NM_181798.1(KCNQ1):c.78G>A (p.Thr26=) rs148121889
NM_181798.1(KCNQ1):c.794G>A (p.Trp265Ter) rs1060500629
NM_181798.1(KCNQ1):c.797A>T (p.Lys266Met) rs199472775
NM_181798.1(KCNQ1):c.798G>T (p.Lys266Asn) rs12720457
NM_181798.1(KCNQ1):c.812A>G (p.Lys271Arg) rs199472777
NM_181798.1(KCNQ1):c.817C>G (p.Pro273Ala) rs1489132337
NM_181798.1(KCNQ1):c.820C>T (p.Arg274Trp) rs766616232
NM_181798.1(KCNQ1):c.824G>A (p.Ser275Asn) rs878853753
NM_181798.1(KCNQ1):c.83_84CT[2] (p.Phe30fs) rs1064795333
NM_181798.1(KCNQ1):c.841C>G (p.Pro281Ala) rs28730756
NM_181798.1(KCNQ1):c.855C>T (p.Pro285=) rs1060503984
NM_181798.1(KCNQ1):c.870+5G>A rs1564826087
NM_181798.1(KCNQ1):c.876del (p.Lys295fs) rs1554895166
NM_181798.1(KCNQ1):c.884del (p.Lys295fs) rs397508083
NM_181798.1(KCNQ1):c.905A>G (p.Asn302Ser) rs1464968488
NM_181798.1(KCNQ1):c.940C>T (p.Pro314Ser) rs199473475
NM_181798.1(KCNQ1):c.94A>T (p.Met32Leu)
NM_181798.1(KCNQ1):c.951G>A (p.Thr317=) rs144985256
NM_181798.1(KCNQ1):c.96+1G>A rs762814879
NM_181798.1(KCNQ1):c.96+5G>A rs397508111
NM_181798.1(KCNQ1):c.96+9C>T rs28730664
NM_181798.1(KCNQ1):c.962C>A (p.Pro321Gln) rs12720449
NM_181798.1(KCNQ1):c.962C>G (p.Pro321Arg) rs12720449
NM_181798.1(KCNQ1):c.962dup (p.Glu322fs) rs397508087
NM_181798.1(KCNQ1):c.97-10G>A rs28730752
NM_181798.1(KCNQ1):c.97-8C>T rs150711844
NM_181798.1(KCNQ1):c.973C>T (p.Arg325Trp) rs140452381
NM_181798.1(KCNQ1):c.974G>A (p.Arg325Gln) rs145229963
NM_181798.1(KCNQ1):c.997G>A (p.Gly333Ser) rs199472783

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