ClinVar Miner

List of variants in gene KCNQ2 reported as pathogenic for Early infantile epileptic encephalopathy

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Total variants: 46
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HGVS dbSNP
NC_000020.10:g.(?_62037977)_(62103836_?)del
NC_000020.10:g.(?_62044803)_(62045546_?)del
NC_000020.10:g.(?_62059700)_(62065276_?)del
NC_000020.10:g.(?_62062673)_(62065276_?)del
NM_172107.2:c.1076C>A
NM_172107.2:c.1687G>A
NM_172107.2:c.1742G>A
NM_172107.2:c.2T>A
NM_172107.2:c.319C>T
NM_172107.2:c.593G>A
NM_172107.2:c.601C>T
NM_172107.3(KCNQ2):c.1678C>T (p.Arg560Trp) rs773171451
NM_172107.3(KCNQ2):c.1872del (p.Lys625Argfs) rs1568864658
NM_172107.3(KCNQ2):c.602G>A (p.Arg201His) rs1057516085
NM_172107.3(KCNQ2):c.619C>T (p.Arg207Trp) rs74315391
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.997C>T (p.Arg333Trp) rs118192215
NM_172107.4(KCNQ2):c.1003C>G (p.Pro335Ala)
NM_172107.4(KCNQ2):c.106del (p.Arg36fs)
NM_172107.4(KCNQ2):c.1086C>G (p.Tyr362Ter) rs747376305
NM_172107.4(KCNQ2):c.1117dup (p.Ser373fs)
NM_172107.4(KCNQ2):c.1160del (p.Pro387fs) rs796052657
NM_172107.4(KCNQ2):c.1229dup (p.Pro411fs) rs886041339
NM_172107.4(KCNQ2):c.1342C>T (p.Arg448Ter) rs118192226
NM_172107.4(KCNQ2):c.1386_1387TG[1] (p.Val463fs) rs878855236
NM_172107.4(KCNQ2):c.1424_1433del (p.Asp475fs)
NM_172107.4(KCNQ2):c.1525+1G>A rs118192228
NM_172107.4(KCNQ2):c.1657C>T (p.Arg553Trp) rs759584387
NM_172107.4(KCNQ2):c.1680dup (p.Pro561fs)
NM_172107.4(KCNQ2):c.1741C>T (p.Arg581Ter) rs118192236
NM_172107.4(KCNQ2):c.1A>G (p.Met1Val) rs118192185
NM_172107.4(KCNQ2):c.2326_2327delinsA (p.Pro776fs)
NM_172107.4(KCNQ2):c.2361dup (p.Ile788fs)
NM_172107.4(KCNQ2):c.365C>T (p.Ser122Leu) rs118192194
NM_172107.4(KCNQ2):c.439del (p.Ala147fs) rs1555873981
NM_172107.4(KCNQ2):c.629G>A (p.Arg210His) rs886041262
NM_172107.4(KCNQ2):c.687del (p.Ser229fs) rs1555873656
NM_172107.4(KCNQ2):c.780_781dup (p.Phe261fs) rs1568932480
NM_172107.4(KCNQ2):c.783_787dup (p.Thr263fs)
NM_172107.4(KCNQ2):c.845del (p.Asp282fs) rs1568927747
NM_172107.4(KCNQ2):c.848del (p.Lys283fs) rs1555870506
NM_172107.4(KCNQ2):c.868G>A (p.Gly290Ser) rs1057516098
NM_172107.4(KCNQ2):c.881C>T (p.Ala294Val) rs118192211
NM_172107.4(KCNQ2):c.915C>G (p.Phe305Leu) rs775918190
Single allele

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