ClinVar Miner

List of variants in gene KCNQ2 reported as pathogenic by Ambry Genetics

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Total variants: 11
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HGVS dbSNP
NM_172107.3(KCNQ2):c.1687G>A (p.Asp563Asn) rs796052653
NM_172107.3(KCNQ2):c.593G>A (p.Arg198Gln) rs796052621
NM_172107.3(KCNQ2):c.619C>T (p.Arg207Trp) rs74315391
NM_172107.4(KCNQ2):c.1229dup (p.Pro411fs) rs886041339
NM_172107.4(KCNQ2):c.1342C>T (p.Arg448Ter) rs118192226
NM_172107.4(KCNQ2):c.2114del (p.Pro705fs) rs1555850868
NM_172107.4(KCNQ2):c.2126_2127del (p.Pro709fs) rs796052667
NM_172107.4(KCNQ2):c.693G>T (p.Glu231Asp) rs797044938
NM_172107.4(KCNQ2):c.710A>G (p.Tyr237Cys) rs797044935
NM_172107.4(KCNQ2):c.740C>T (p.Ser247Leu) rs74315392
NM_172107.4(KCNQ2):c.916G>A (p.Ala306Thr) rs74315390

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