ClinVar Miner

List of variants in gene KCNQ2 reported as pathogenic for not provided

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Total variants: 96
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HGVS dbSNP
NM_172107.2(KCNQ2):c.297delG (p.Phe100Serfs) rs886041611
NM_172107.3(KCNQ2):c.1678C>T (p.Arg560Trp) rs773171451
NM_172107.3(KCNQ2):c.1687G>A (p.Asp563Asn) rs796052653
NM_172107.3(KCNQ2):c.1888del (p.Val630Serfs) rs796052668
NM_172107.3(KCNQ2):c.2245G>T (p.Glu749Ter) rs796052658
NM_172107.3(KCNQ2):c.583T>C (p.Ser195Pro) rs796052620
NM_172107.3(KCNQ2):c.593G>A (p.Arg198Gln) rs796052621
NM_172107.3(KCNQ2):c.601C>T (p.Arg201Cys) rs796052623
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.1004C>T (p.Pro335Leu) rs796052641
NM_172107.4(KCNQ2):c.1009G>A (p.Ala337Thr) rs796052642
NM_172107.4(KCNQ2):c.1010C>G (p.Ala337Gly) rs796052643
NM_172107.4(KCNQ2):c.102del (p.Thr35fs) rs1568986619
NM_172107.4(KCNQ2):c.1093C>T (p.Arg365Ter) rs1085307463
NM_172107.4(KCNQ2):c.1118+2T>C rs886042605
NM_172107.4(KCNQ2):c.1160del (p.Pro387fs) rs796052657
NM_172107.4(KCNQ2):c.1204G>T (p.Gly402Ter) rs1064794001
NM_172107.4(KCNQ2):c.1229del (p.Pro410fs) rs886041339
NM_172107.4(KCNQ2):c.1229dup (p.Pro411fs) rs886041339
NM_172107.4(KCNQ2):c.1342C>T (p.Arg448Ter) rs118192226
NM_172107.4(KCNQ2):c.1357_1373del (p.Lys453fs) rs1555854643
NM_172107.4(KCNQ2):c.144del (p.Lys49fs) rs1555881809
NM_172107.4(KCNQ2):c.1508C>G (p.Ser503Ter) rs1131691734
NM_172107.4(KCNQ2):c.1604dup (p.Leu536fs) rs886041608
NM_172107.4(KCNQ2):c.1631+1G>A rs1057516121
NM_172107.4(KCNQ2):c.1632-1G>A rs118192233
NM_172107.4(KCNQ2):c.1637T>C (p.Met546Thr) rs886041860
NM_172107.4(KCNQ2):c.1657C>T (p.Arg553Trp) rs759584387
NM_172107.4(KCNQ2):c.1658G>A (p.Arg553Gln) rs118192234
NM_172107.4(KCNQ2):c.1658G>T (p.Arg553Leu) rs118192234
NM_172107.4(KCNQ2):c.1682C>T (p.Pro561Leu) rs796052652
NM_172107.4(KCNQ2):c.1686C>A (p.Tyr562Ter) rs1057520773
NM_172107.4(KCNQ2):c.1687G>T (p.Asp563Tyr) rs796052653
NM_172107.4(KCNQ2):c.1709del (p.Gln570fs) rs1555853549
NM_172107.4(KCNQ2):c.1734G>C (p.Met578Ile) rs796052655
NM_172107.4(KCNQ2):c.1734_1735delinsAA (p.Met578_Leu579delinsIleMet) rs796052665
NM_172107.4(KCNQ2):c.1741C>G (p.Arg581Gly) rs118192236
NM_172107.4(KCNQ2):c.1741C>T (p.Arg581Ter) rs118192236
NM_172107.4(KCNQ2):c.1764-1G>C rs796052649
NM_172107.4(KCNQ2):c.1816A>T (p.Lys606Ter) rs1555851516
NM_172107.4(KCNQ2):c.1820del (p.Gly607fs) rs1555851513
NM_172107.4(KCNQ2):c.1887+1G>T rs796052670
NM_172107.4(KCNQ2):c.1930dup (p.Tyr644fs) rs796052666
NM_172107.4(KCNQ2):c.204dup (p.Lys69fs) rs118192188
NM_172107.4(KCNQ2):c.2085del (p.Thr696fs) rs1131691658
NM_172107.4(KCNQ2):c.2126_2127del (p.Pro709fs) rs796052667
NM_172107.4(KCNQ2):c.2126dup (p.Val710fs) rs1555850842
NM_172107.4(KCNQ2):c.2127del (p.Val710fs) rs118192244
NM_172107.4(KCNQ2):c.222C>G (p.Tyr74Ter) rs796052613
NM_172107.4(KCNQ2):c.2401del (p.Ser801fs) rs1064793852
NM_172107.4(KCNQ2):c.2555del (p.Pro852fs) rs1064793317
NM_172107.4(KCNQ2):c.274dup (p.Ala92fs) rs886041890
NM_172107.4(KCNQ2):c.286dup (p.His96fs) rs1085307905
NM_172107.4(KCNQ2):c.294C>G (p.Tyr98Ter) rs796052614
NM_172107.4(KCNQ2):c.297-2A>G rs796052615
NM_172107.4(KCNQ2):c.325_328CTGT[1] (p.Ser110fs) rs1064796151
NM_172107.4(KCNQ2):c.331_332GT[1] (p.Ser113fs) rs796052663
NM_172107.4(KCNQ2):c.365C>T (p.Ser122Leu) rs118192194
NM_172107.4(KCNQ2):c.430C>T (p.Arg144Trp) rs1555873985
NM_172107.4(KCNQ2):c.518dup (p.Met174fs) rs1555873813
NM_172107.4(KCNQ2):c.523G>C (p.Val175Leu) rs1057516082
NM_172107.4(KCNQ2):c.578C>A (p.Ala193Asp) rs796052619
NM_172107.4(KCNQ2):c.611A>G (p.Gln204Arg) rs796052624
NM_172107.4(KCNQ2):c.612G>C (p.Gln204His) rs796052625
NM_172107.4(KCNQ2):c.620G>A (p.Arg207Gln) rs118192200
NM_172107.4(KCNQ2):c.624del (p.Met208fs) rs886039485
NM_172107.4(KCNQ2):c.629G>A (p.Arg210His) rs886041262
NM_172107.4(KCNQ2):c.629G>C (p.Arg210Pro) rs886041262
NM_172107.4(KCNQ2):c.636C>A (p.Asp212Glu) rs796052627
NM_172107.4(KCNQ2):c.637C>T (p.Arg213Trp) rs118192203
NM_172107.4(KCNQ2):c.638G>A (p.Arg213Gln) rs397514581
NM_172107.4(KCNQ2):c.654G>A (p.Trp218Ter) rs1555873683
NM_172107.4(KCNQ2):c.691G>C (p.Glu231Gln) rs1064794063
NM_172107.4(KCNQ2):c.692A>G (p.Glu231Gly) rs796052629
NM_172107.4(KCNQ2):c.740C>T (p.Ser247Leu) rs74315392
NM_172107.4(KCNQ2):c.769G>T (p.Glu257Ter) rs1555871853
NM_172107.4(KCNQ2):c.794C>T (p.Ala265Val) rs587777219
NM_172107.4(KCNQ2):c.807G>A (p.Trp269Ter) rs118192208
NM_172107.4(KCNQ2):c.809G>A (p.Trp270Ter) rs796052634
NM_172107.4(KCNQ2):c.827C>T (p.Thr276Ile) rs1057516095
NM_172107.4(KCNQ2):c.841G>A (p.Gly281Arg) rs794727813
NM_172107.4(KCNQ2):c.841G>T (p.Gly281Trp) rs794727813
NM_172107.4(KCNQ2):c.844G>A (p.Asp282Asn) rs796052636
NM_172107.4(KCNQ2):c.848A>G (p.Lys283Arg) rs796052637
NM_172107.4(KCNQ2):c.868G>A (p.Gly290Ser) rs1057516098
NM_172107.4(KCNQ2):c.869G>A (p.Gly290Asp) rs397514582
NM_172107.4(KCNQ2):c.881C>T (p.Ala294Val) rs118192211
NM_172107.4(KCNQ2):c.910_912TTC[1] (p.Phe305del) rs118192212
NM_172107.4(KCNQ2):c.915C>A (p.Phe305Leu) rs775918190
NM_172107.4(KCNQ2):c.916G>C (p.Ala306Pro) rs74315390
NM_172107.4(KCNQ2):c.927+1G>A rs1555870346
NM_172107.4(KCNQ2):c.981_985delinsCCCGGCAGCAGG (p.Lys327fs) rs1555869796
NM_172107.4(KCNQ2):c.992del (p.Lys331fs) rs886042010

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