ClinVar Miner

List of variants in gene KCNQ2 reported as pathogenic for Seizures

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Total variants: 6
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HGVS dbSNP
NM_172107.3(KCNQ2):c.1687G>A (p.Asp563Asn) rs796052653
NM_172107.4(KCNQ2):c.1229dup (p.Pro411fs) rs886041339
NM_172107.4(KCNQ2):c.1342C>T (p.Arg448Ter) rs118192226
NM_172107.4(KCNQ2):c.693G>T (p.Glu231Asp) rs797044938
NM_172107.4(KCNQ2):c.910_912TTC[1] (p.Phe305del) rs118192212
NM_172107.4(KCNQ2):c.916G>A (p.Ala306Thr) rs74315390

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