ClinVar Miner

List of variants in gene KCNQ1 reported as pathogenic by Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues

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Total variants: 18
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HGVS dbSNP
NM_000218.2(KCNQ1):c.1016T>C (p.Phe339Ser) rs199472759
NM_000218.2(KCNQ1):c.1022C>T (p.Ala341Val) rs12720459
NM_000218.2(KCNQ1):c.1066C>T (p.Gln356Ter) rs397508072
NM_000218.2(KCNQ1):c.1325del (p.His442fs) rs1135401944
NM_000218.2(KCNQ1):c.1552C>T (p.Arg518Ter) rs17215500
NM_000218.2(KCNQ1):c.1610_1614dup (p.Arg539fs) rs1554920580
NM_000218.2(KCNQ1):c.1685+1G>A rs794728531
NM_000218.2(KCNQ1):c.1685+2T>C
NM_000218.2(KCNQ1):c.1772G>A (p.Arg591His) rs199472814
NM_000218.2(KCNQ1):c.355G>C (p.Gly119Arg) rs1325525794
NM_000218.2(KCNQ1):c.477+1G>A rs762814879
NM_000218.2(KCNQ1):c.524_534dup (p.Gly179fs) rs763462603
NM_000218.2(KCNQ1):c.569G>T (p.Arg190Leu) rs120074178
NM_000218.2(KCNQ1):c.775C>T (p.Arg259Cys) rs199472719
NM_000218.2(KCNQ1):c.821_823TCT[1] (p.Phe275del) rs397508126
NM_000218.2(KCNQ1):c.825_827CTC[1] (p.Ser277del) rs397508127
NM_000218.2(KCNQ1):c.914G>T (p.Trp305Leu) rs120074186
NM_000218.2(KCNQ1):c.940G>A (p.Gly314Ser) rs120074184

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