ClinVar Miner

List of variants in gene KCNQ1 reported as not provided for Long QT syndrome, LQT1 subtype

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Total variants: 24
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HGVS dbSNP
NM_000218.2(KCNQ1):c.1018_1020del (p.Phe340del) rs397508069
NM_000218.2(KCNQ1):c.1032+5G>A rs397508071
NM_000218.2(KCNQ1):c.1066_1071del (p.Gln356_Gln357del) rs397508073
NM_000218.2(KCNQ1):c.1067_1072AGCAGA[1] (p.Lys358_Gln359del) rs397508074
NM_000218.2(KCNQ1):c.1083_1088dup (p.Gln361_Lys362dup) rs397508076
NM_000218.2(KCNQ1):c.1128+1G>T rs397508078
NM_000218.2(KCNQ1):c.1174_1176dup (p.Trp392dup) rs397508080
NM_000218.2(KCNQ1):c.1291dup (p.Val431fs) rs397508085
NM_000218.2(KCNQ1):c.1293dup (p.Thr432fs) rs397508086
NM_000218.2(KCNQ1):c.1345dup (p.Glu449fs) rs397508089
NM_000218.2(KCNQ1):c.151dup (p.Tyr51fs) rs397508094
NM_000218.2(KCNQ1):c.1539del (p.Ile514fs) rs397508095
NM_000218.2(KCNQ1):c.1710del (p.Ser571fs) rs397508099
NM_000218.2(KCNQ1):c.1725_1728del (p.Val576fs) rs397508100
NM_000218.2(KCNQ1):c.1876_1893del (p.Gly626_Pro631del) rs397508102
NM_000218.2(KCNQ1):c.202_210GCCGCGCCC[3] (p.68_70AAP[3]) rs397508107
NM_000218.2(KCNQ1):c.287del (p.Thr96fs) rs397508108
NM_000218.2(KCNQ1):c.363dup (p.Cys122fs) rs1554958119
NM_000218.2(KCNQ1):c.500_502del (p.Phe167_Gly168delinsTrp) rs397508113
NM_000218.2(KCNQ1):c.504del (p.Thr169fs) rs397508114
NM_000218.2(KCNQ1):c.577T>C (p.Phe193Leu) rs397508119
NM_000218.2(KCNQ1):c.661_662GT[3] (p.Phe222fs) rs397508121
NM_000218.2(KCNQ1):c.921_921+2del3 rs397508132
NM_000218.2(KCNQ1):c.922-2A>C rs397508133

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