ClinVar Miner

List of variants in gene KCNQ1 reported 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.825_827CTC[1] (p.Ser277del) rs397508127
NM_000218.3(KCNQ1):c.535G>A (p.Gly179Ser) rs199473394
NM_181798.1(KCNQ1):c.1216C>T (p.Arg406Trp) rs199472793
NM_181798.1(KCNQ1):c.121G>A (p.Gly41Arg) rs179489
NM_181798.1(KCNQ1):c.1305-2A>G rs878854350
NM_181798.1(KCNQ1):c.1322G>C (p.Gly441Ala) rs199472806
NM_181798.1(KCNQ1):c.1352-1G>C rs878854348
NM_181798.1(KCNQ1):c.1381A>T (p.Ile461Phe) rs794728536
NM_181798.1(KCNQ1):c.143_153dup (p.Gly52fs) rs763462603
NM_181798.1(KCNQ1):c.176G>A (p.Gly59Asp) rs794728568
NM_181798.1(KCNQ1):c.188G>A (p.Arg63Gln) rs120074178
NM_181798.1(KCNQ1):c.377C>G (p.Ser126Cys) rs794728513
NM_181798.1(KCNQ1):c.440_442TCT[1] (p.Phe148del) rs397508126
NM_181798.1(KCNQ1):c.62del (p.Tyr21fs) rs878854347
NM_181798.1(KCNQ1):c.651G>A (p.Ala217=) rs1800171
NM_181798.1(KCNQ1):c.670T>C (p.Phe224Leu) rs779383393

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