ClinVar Miner

List of variants in gene KCNQ2 reported as pathogenic by NeuroMeGen,Hospital Clinico Santiago de Compostela

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Total variants: 14
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HGVS dbSNP
NM_172107.3(KCNQ2):c.319C>T (p.Leu107Phe) rs864321712
NM_172107.3(KCNQ2):c.601C>T (p.Arg201Cys) rs796052623
NM_172107.3(KCNQ2):c.793G>A (p.Ala265Thr) rs794727740
NM_172107.3(KCNQ2):c.821C>T (p.Thr274Met) rs727503974
NM_172107.3(KCNQ2):c.917C>T (p.Ala306Val) rs864321707
NM_172107.4(KCNQ2):c.1657C>T (p.Arg553Trp) rs759584387
NM_172107.4(KCNQ2):c.2127del (p.Val710fs) rs118192244
NM_172107.4(KCNQ2):c.2147C>T (p.Thr716Ile) rs864321711
NM_172107.4(KCNQ2):c.388G>A (p.Glu130Lys) rs864321710
NM_172107.4(KCNQ2):c.775G>T (p.Asp259Tyr) rs777257591
NM_172107.4(KCNQ2):c.803T>C (p.Leu268Pro) rs864321708
NM_172107.4(KCNQ2):c.850T>G (p.Tyr284Asp) rs864321706
NM_172107.4(KCNQ2):c.881C>T (p.Ala294Val) rs118192211
NM_172107.4(KCNQ2):c.943G>C (p.Gly315Arg) rs864321709

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