ClinVar Miner

List of variants in gene KCNQ1 reported by OMIM

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Total variants: 46
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HGVS dbSNP
KCNQ1, 3-BP DEL
KCNQ1, IVS1
NM_000218.2(KCNQ1):c.160_168dup (p.Ile54_Pro56dup) rs397515877
NM_000218.2(KCNQ1):c.1630_1635delCAGTACinsGTTGAGA (p.Gln544Valfs) rs397515637
NM_000218.2(KCNQ1):c.202_210GCCGCGCCC[1] (p.68_70AAP[1]) rs397508107
NM_000218.2(KCNQ1):c.350C>T (p.Pro117Leu) rs120074191
NM_000218.2(KCNQ1):c.[1249G>A;760G>A]
NM_181798.1(KCNQ1):c.1171C>T (p.Arg391Ter) rs17215500
NM_181798.1(KCNQ1):c.1192G>A (p.Ala398Thr) rs120074188
NM_181798.1(KCNQ1):c.1282C>T (p.Arg428Cys) rs120074185
NM_181798.1(KCNQ1):c.1366C>T (p.Arg456Cys) rs17221854
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.1511_1530del (p.Pro504fs) rs397508103
NM_181798.1(KCNQ1):c.1512dup (p.Arg505fs) rs397508104
NM_181798.1(KCNQ1):c.151G>C (p.Ala51Pro) rs120074177
NM_181798.1(KCNQ1):c.152delinsGG (p.Ala51fs) rs397508115
NM_181798.1(KCNQ1):c.181del (p.Trp61fs) rs397508116
NM_181798.1(KCNQ1):c.184G>A (p.Gly62Arg) rs104894252
NM_181798.1(KCNQ1):c.186dup (p.Arg63fs) rs397508117
NM_181798.1(KCNQ1):c.188G>A (p.Arg63Gln) rs120074178
NM_181798.1(KCNQ1):c.232G>A (p.Val78Met) rs151344631
NM_181798.1(KCNQ1):c.244T>C (p.Ser82Pro) rs199472705
NM_181798.1(KCNQ1):c.305G>A (p.Gly102Asp) rs199472708
NM_181798.1(KCNQ1):c.311G>A (p.Arg104His) rs199472709
NM_181798.1(KCNQ1):c.347G>C (p.Arg116Pro) rs120074196
NM_181798.1(KCNQ1):c.379G>A (p.Val127Met) rs120074179
NM_181798.1(KCNQ1):c.37A>G (p.Ser13Gly) rs120074192
NM_181798.1(KCNQ1):c.40G>A (p.Val14Met) rs199472687
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.436C>T (p.Leu146Phe) rs120074180
NM_181798.1(KCNQ1):c.454T>A (p.Phe152Ile) rs1057519584
NM_181798.1(KCNQ1):c.517G>A (p.Ala173Thr) rs120074187
NM_181798.1(KCNQ1):c.533G>C (p.Trp178Ser) rs120074186
NM_181798.1(KCNQ1):c.535G>A (p.Gly179Arg) rs120074181
NM_181798.1(KCNQ1):c.538G>C (p.Val180Leu) rs120074195
NM_181798.1(KCNQ1):c.541-1G>C rs387906290
NM_181798.1(KCNQ1):c.554C>T (p.Thr185Ile) rs120074182
NM_181798.1(KCNQ1):c.559G>A (p.Gly187Ser) rs120074184
NM_181798.1(KCNQ1):c.637_639del (p.Phe213del) rs397508069
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.653G>A (p.Gly218Glu) rs120074183
NM_181798.1(KCNQ1):c.70_71del (p.Leu24fs) rs397508110

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