ClinVar Miner

List of variants in gene KCNQ2 reported as likely pathogenic by CeGaT Praxis fuer Humangenetik Tuebingen

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Total variants: 6
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HGVS dbSNP
NM_172107.3(KCNQ2):c.601C>T (p.Arg201Cys) rs796052623
NM_172107.4(KCNQ2):c.1A>G (p.Met1Val) rs118192185
NM_172107.4(KCNQ2):c.740C>T (p.Ser247Leu) rs74315392
NM_172107.4(KCNQ2):c.794C>T (p.Ala265Val) rs587777219
NM_172107.4(KCNQ2):c.811G>C (p.Gly271Arg) rs1064797284
NM_172107.4(KCNQ2):c.816+1G>A rs1057519124

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