ClinVar Miner

List of variants in gene KCNQ2 reported as likely pathogenic for developmental and epileptic encephalopathy, 7

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 87
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HGVS dbSNP gnomAD frequency
NM_172107.4(KCNQ2):c.1811G>A (p.Arg604His) rs1203495492 0.00002
NM_172107.4(KCNQ2):c.1588G>A (p.Glu530Lys) rs897976020 0.00001
NM_172107.4(KCNQ2):c.1016T>A (p.Leu339Gln) rs118192217
NM_172107.4(KCNQ2):c.1045A>C (p.Thr349Pro) rs2145680256
NM_172107.4(KCNQ2):c.1046C>T (p.Thr349Ile) rs2080906453
NM_172107.4(KCNQ2):c.1064A>T (p.Asp355Val) rs2080905274
NM_172107.4(KCNQ2):c.1067T>G (p.Leu356Arg) rs1057518772
NM_172107.4(KCNQ2):c.1080G>T (p.Trp360Cys) rs1600732174
NM_172107.4(KCNQ2):c.1123C>T (p.Gln375Ter) rs756360226
NM_172107.4(KCNQ2):c.1148+2T>A
NM_172107.4(KCNQ2):c.1154dup (p.Leu388fs) rs2145637592
NM_172107.4(KCNQ2):c.1168C>T (p.Gln390Ter) rs2145637412
NM_172107.4(KCNQ2):c.1525G>T (p.Glu509Ter)
NM_172107.4(KCNQ2):c.1623_1631+5del rs2145547209
NM_172107.4(KCNQ2):c.1632-6C>A
NM_172107.4(KCNQ2):c.1657C>G (p.Arg553Gly)
NM_172107.4(KCNQ2):c.1663T>A (p.Phe555Ile) rs2145542277
NM_172107.4(KCNQ2):c.1666A>C (p.Lys556Gln)
NM_172107.4(KCNQ2):c.1678C>T (p.Arg560Trp) rs773171451
NM_172107.4(KCNQ2):c.1690G>A (p.Val564Met)
NM_172107.4(KCNQ2):c.1720G>A (p.Gly574Ser) rs2080187424
NM_172107.4(KCNQ2):c.1721G>A (p.Gly574Asp) rs796052654
NM_172107.4(KCNQ2):c.1749G>C (p.Lys583Asn) rs2145541173
NM_172107.4(KCNQ2):c.1763+4A>G rs2145541064
NM_172107.4(KCNQ2):c.236del (p.Asn79fs)
NM_172107.4(KCNQ2):c.26G>A (p.Gly9Asp)
NM_172107.4(KCNQ2):c.297-1G>C rs2081442293
NM_172107.4(KCNQ2):c.316T>G (p.Cys106Gly) rs2145789722
NM_172107.4(KCNQ2):c.365C>T (p.Ser122Leu) rs118192194
NM_172107.4(KCNQ2):c.367del (p.Glu123fs) rs2145789218
NM_172107.4(KCNQ2):c.380A>G (p.Tyr127Cys) rs796052617
NM_172107.4(KCNQ2):c.380A>T (p.Tyr127Phe) rs796052617
NM_172107.4(KCNQ2):c.385C>G (p.Leu129Val) rs1381622639
NM_172107.4(KCNQ2):c.394G>A (p.Val132Met) rs1600789325
NM_172107.4(KCNQ2):c.401T>A (p.Ile134Asn) rs2145779680
NM_172107.4(KCNQ2):c.430C>G (p.Arg144Gly) rs1555873985
NM_172107.4(KCNQ2):c.430C>T (p.Arg144Trp)
NM_172107.4(KCNQ2):c.476G>T (p.Gly159Val) rs1057516081
NM_172107.4(KCNQ2):c.49G>T (p.Glu17Ter) rs2145922320
NM_172107.4(KCNQ2):c.514G>A (p.Asp172Asn)
NM_172107.4(KCNQ2):c.533C>T (p.Ala178Val) rs2145776110
NM_172107.4(KCNQ2):c.553G>A (p.Ala185Thr) rs1600786349
NM_172107.4(KCNQ2):c.562C>A (p.Gln188Lys) rs2081363302
NM_172107.4(KCNQ2):c.566G>A (p.Gly189Asp)
NM_172107.4(KCNQ2):c.578C>T (p.Ala193Val) rs796052619
NM_172107.4(KCNQ2):c.581C>T (p.Thr194Ile) rs2081362775
NM_172107.4(KCNQ2):c.584C>G (p.Ser195Cys) rs1568940442
NM_172107.4(KCNQ2):c.617T>G (p.Leu206Arg) rs1339542565
NM_172107.4(KCNQ2):c.628C>T (p.Arg210Cys) rs796052626
NM_172107.4(KCNQ2):c.634dup (p.Asp212fs)
NM_172107.4(KCNQ2):c.638G>A (p.Arg213Gln)
NM_172107.4(KCNQ2):c.650C>T (p.Thr217Ile)
NM_172107.4(KCNQ2):c.668C>T (p.Ser223Phe) rs2145774638
NM_172107.4(KCNQ2):c.670G>C (p.Val224Leu) rs2145774625
NM_172107.4(KCNQ2):c.704C>T (p.Ala235Val) rs797045638
NM_172107.4(KCNQ2):c.706T>C (p.Trp236Arg) rs942541730
NM_172107.4(KCNQ2):c.715G>A (p.Gly239Ser)
NM_172107.4(KCNQ2):c.725G>A (p.Cys242Tyr) rs2081191454
NM_172107.4(KCNQ2):c.727C>G (p.Leu243Val) rs118192205
NM_172107.4(KCNQ2):c.739T>C (p.Ser247Pro)
NM_172107.4(KCNQ2):c.757G>A (p.Ala253Thr) rs1057516093
NM_172107.4(KCNQ2):c.762G>C (p.Glu254Asp) rs2081189736
NM_172107.4(KCNQ2):c.763A>C (p.Lys255Gln)
NM_172107.4(KCNQ2):c.766G>A (p.Gly256Arg) rs1057518500
NM_172107.4(KCNQ2):c.778C>T (p.His260Tyr) rs1555871832
NM_172107.4(KCNQ2):c.782T>G (p.Phe261Cys) rs796052631
NM_172107.4(KCNQ2):c.794C>T (p.Ala265Val) rs587777219
NM_172107.4(KCNQ2):c.797A>T (p.Asp266Val)
NM_172107.4(KCNQ2):c.799G>A (p.Ala267Thr) rs2145735332
NM_172107.4(KCNQ2):c.806G>C (p.Trp269Ser) rs796052633
NM_172107.4(KCNQ2):c.811G>A (p.Gly271Ser) rs1064797284
NM_172107.4(KCNQ2):c.816+2T>A rs2081186625
NM_172107.4(KCNQ2):c.829A>T (p.Thr277Ser) rs1555870554
NM_172107.4(KCNQ2):c.833T>C (p.Ile278Thr) rs1057523728
NM_172107.4(KCNQ2):c.836G>A (p.Gly279Asp) rs2145719551
NM_172107.4(KCNQ2):c.836G>T (p.Gly279Val)
NM_172107.4(KCNQ2):c.841G>C (p.Gly281Arg) rs794727813
NM_172107.4(KCNQ2):c.853C>T (p.Pro285Ser) rs2081101244
NM_172107.4(KCNQ2):c.868G>T (p.Gly290Cys)
NM_172107.4(KCNQ2):c.873G>C (p.Arg291Ser) rs1057519535
NM_172107.4(KCNQ2):c.875T>C (p.Leu292Pro) rs1060500602
NM_172107.4(KCNQ2):c.902G>A (p.Gly301Asp) rs1131691936
NM_172107.4(KCNQ2):c.910TTC[1] (p.Phe305del) rs118192212
NM_172107.4(KCNQ2):c.911T>C (p.Phe304Ser) rs1057516100
NM_172107.4(KCNQ2):c.922C>T (p.Pro308Ser)
NM_172107.4(KCNQ2):c.923C>T (p.Pro308Leu)
NM_172107.4(KCNQ2):c.949G>A (p.Ala317Thr) rs1600751236

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