ClinVar Miner

List of variants in gene KCNQ1 reported as pathogenic by Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital

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Total variants: 16
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HGVS dbSNP
NM_000218.2(KCNQ1):c.1032G>A (p.Ala344=) rs1800171
NM_000218.2(KCNQ1):c.1051T>C (p.Phe351Leu) rs779383393
NM_000218.2(KCNQ1):c.1597C>T (p.Arg533Trp) rs199472793
NM_000218.2(KCNQ1):c.1686-2A>G rs878854350
NM_000218.2(KCNQ1):c.1703G>C (p.Gly568Ala) rs199472806
NM_000218.2(KCNQ1):c.1733-1G>C rs878854348
NM_000218.2(KCNQ1):c.1762A>T (p.Ile588Phe) rs794728536
NM_000218.2(KCNQ1):c.443del (p.Tyr148fs) rs878854347
NM_000218.2(KCNQ1):c.502G>A (p.Gly168Arg) rs179489
NM_000218.2(KCNQ1):c.524_534dup (p.Gly179fs) rs763462603
NM_000218.2(KCNQ1):c.535G>A (p.Gly179Ser) rs199473394
NM_000218.2(KCNQ1):c.557G>A (p.Gly186Asp) rs794728568
NM_000218.2(KCNQ1):c.569G>A (p.Arg190Gln) rs120074178
NM_000218.2(KCNQ1):c.758C>G (p.Ser253Cys) rs794728513
NM_000218.2(KCNQ1):c.821_823TCT[1] (p.Phe275del) rs397508126
NM_000218.2(KCNQ1):c.825_827CTC[1] (p.Ser277del) rs397508127

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