ClinVar Miner

List of variants in gene KCNQ2 studied for Epileptic encephalopathy

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_172107.4(KCNQ2):c.1742G>A (p.Arg581Gln) rs118192235
NM_172107.4(KCNQ2):c.2126dup (p.Val710fs) rs1555850842
NM_172107.4(KCNQ2):c.590T>C (p.Leu197Pro) rs1600786071
NM_172107.4(KCNQ2):c.798T>A (p.Asp266Glu) rs1057519536
NM_172107.4(KCNQ2):c.802C>T (p.Leu268Phe) rs1057516094
NM_172107.4(KCNQ2):c.845A>T (p.Asp282Val) rs1600755440
NM_172107.4(KCNQ2):c.873G>T (p.Arg291Ser) rs1057519535
NM_172107.4(KCNQ2):c.881C>T (p.Ala294Val)
NM_172107.4(KCNQ2):c.901G>A (p.Gly301Ser) rs1057516099

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