ClinVar Miner

List of variants in gene KCNQ1 studied for Long QT syndrome, LQT1 subtype

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Total variants: 26
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HGVS dbSNP
NM_000218.2(KCNQ1):c.151dup (p.Tyr51fs) rs397508094
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_181798.1(KCNQ1):c.1143del (p.Glu381fs) rs1564886349
NM_181798.1(KCNQ1):c.1158del (p.Ile387fs) rs397508095
NM_181798.1(KCNQ1):c.119_121del (p.Phe40_Gly41delinsTrp) rs397508113
NM_181798.1(KCNQ1):c.123del (p.Thr42fs) rs397508114
NM_181798.1(KCNQ1):c.1329del (p.Ser444fs) rs397508099
NM_181798.1(KCNQ1):c.1344_1347del (p.Val449fs) rs397508100
NM_181798.1(KCNQ1):c.140G>A (p.Arg47His) rs199472697
NM_181798.1(KCNQ1):c.1495_1512del (p.Gly499_Pro504del) rs397508102
NM_181798.1(KCNQ1):c.196T>C (p.Phe66Leu) rs397508119
NM_181798.1(KCNQ1):c.280_281GT[3] (p.Phe95fs) rs397508121
NM_181798.1(KCNQ1):c.540_540+2del rs397508132
NM_181798.1(KCNQ1):c.541-2A>C rs397508133
NM_181798.1(KCNQ1):c.637_639del (p.Phe213del) rs397508069
NM_181798.1(KCNQ1):c.651+5G>A rs397508071
NM_181798.1(KCNQ1):c.685_690del (p.Gln229_Gln230del) rs397508073
NM_181798.1(KCNQ1):c.686_691AGCAGA[1] (p.Lys231_Gln232del) rs397508074
NM_181798.1(KCNQ1):c.702_707dup (p.Gln234_Lys235dup) rs397508076
NM_181798.1(KCNQ1):c.747+1G>T rs397508078
NM_181798.1(KCNQ1):c.793_795dup (p.Trp265dup) rs397508080
NM_181798.1(KCNQ1):c.910dup (p.Val304fs) rs397508085
NM_181798.1(KCNQ1):c.912dup (p.Thr305fs) rs397508086
NM_181798.1(KCNQ1):c.964dup (p.Glu322fs) rs397508089

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