ClinVar Miner

List of variants in gene KCNQ1 studied for Jervell and Lange-Nielsen syndrome 1

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Total variants: 17
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HGVS dbSNP
KCNQ1, IVS1
NM_000218.2(KCNQ1):c.115G>T (p.Glu39Ter) rs1554958045
NM_000218.2(KCNQ1):c.1630_1635delCAGTACinsGTTGAGA (p.Gln544Valfs) rs397515637
NM_181798.1(KCNQ1):c.1153del (p.Ala385fs) rs1554919471
NM_181798.1(KCNQ1):c.1305-1G>A rs397508098
NM_181798.1(KCNQ1):c.1351+5del rs1554920833
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.186dup (p.Arg63fs) rs397508117
NM_181798.1(KCNQ1):c.192_196del (p.Arg65fs) rs397508118
NM_181798.1(KCNQ1):c.352_353del (p.Gly118fs) rs1554893092
NM_181798.1(KCNQ1):c.362_363delinsTC (p.Trp121Phe) rs397508123
NM_181798.1(KCNQ1):c.533G>C (p.Trp178Ser) rs120074186
NM_181798.1(KCNQ1):c.70_71del (p.Leu24fs) rs397508110
NM_181798.1(KCNQ1):c.768dup (p.Ala257fs) rs397508079
NM_181798.1(KCNQ1):c.808del (p.Arg270fs) rs397508081

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