ClinVar Miner

List of variants in gene KCNQ1 reported as pathogenic by Invitae

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Gene type:
ClinVar version:
Total variants: 84
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HGVS dbSNP
NC_000011.9:g.(?_2549138)_(2549268_?)del
NC_000011.9:g.(?_2591838)_(2594236_?)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.(?_2797184)_(2798268_?)del
NC_000011.9:g.(?_2797190)_(2798262_?)del
NM_000218.2(KCNQ1):c.153C>G (p.Tyr51Ter) rs397508096
NM_000218.2(KCNQ1):c.1686delG rs794728562
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.382_383dup (p.Val129fs) rs1554958132
NM_000218.2(KCNQ1):c.51G>A (p.Trp17Ter)
NM_000218.2(KCNQ1):c.94A>T (p.Lys32Ter) rs1554958043
NM_181798.1(KCNQ1):c.1171C>T (p.Arg391Ter) rs17215500
NM_181798.1(KCNQ1):c.1178T>G (p.Met393Arg) rs199473479
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.1234C>T (p.Arg412Trp) rs199472795
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.1319T>C (p.Ile440Thr) rs199472805
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.1352-1G>C rs878854348
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.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.1402del (p.Arg467_Val468insTer) rs765169367
NM_181798.1(KCNQ1):c.143_153del (p.Leu48fs) rs763462603
NM_181798.1(KCNQ1):c.1512del (p.Arg505fs) rs397508104
NM_181798.1(KCNQ1):c.1512dup (p.Arg505fs) rs397508104
NM_181798.1(KCNQ1):c.151G>A (p.Ala51Thr) rs120074177
NM_181798.1(KCNQ1):c.1525dup (p.Ala509fs) rs1464992494
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.204del (p.Lys69fs) rs397508120
NM_181798.1(KCNQ1):c.244T>C (p.Ser82Pro) rs199472705
NM_181798.1(KCNQ1):c.293C>T (p.Ser98Leu) rs199473456
NM_181798.1(KCNQ1):c.311G>A (p.Arg104His) rs199472709
NM_181798.1(KCNQ1):c.323T>A (p.Ile108Asn) rs199472710
NM_181798.1(KCNQ1):c.325del (p.Ile108_Leu109insTer)
NM_181798.1(KCNQ1):c.346C>T (p.Arg116Cys) rs199472713
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.364_373del (p.Arg122fs) rs1060500626
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.424G>A (p.Gly142Ser) rs120074193
NM_181798.1(KCNQ1):c.425G>A (p.Gly142Asp) rs120074194
NM_181798.1(KCNQ1):c.434G>A (p.Gly145Asp) rs199472726
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.533G>A (p.Trp178Ter) rs120074186
NM_181798.1(KCNQ1):c.584C>T (p.Thr195Met) rs199472755
NM_181798.1(KCNQ1):c.592G>A (p.Gly198Arg) rs199472756
NM_181798.1(KCNQ1):c.592G>C (p.Gly198Arg)
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.652G>C (p.Gly218Arg) rs199473471
NM_181798.1(KCNQ1):c.665C>A (p.Ser222Ter) rs199472765
NM_181798.1(KCNQ1):c.685C>T (p.Gln229Ter) rs397508072
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.745C>T (p.Gln249Ter) rs1564825414
NM_181798.1(KCNQ1):c.794G>A (p.Trp265Ter) rs1060500629
NM_181798.1(KCNQ1):c.83_84CT[2] (p.Phe30fs) rs1064795333
NM_181798.1(KCNQ1):c.876del (p.Lys295fs) rs1554895166
NM_181798.1(KCNQ1):c.884del (p.Lys295fs) rs397508083
NM_181798.1(KCNQ1):c.96+1G>A rs762814879
NM_181798.1(KCNQ1):c.96+5G>A rs397508111
NM_181798.1(KCNQ1):c.962dup (p.Glu322fs) rs397508087

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