ClinVar Miner

List of variants in gene KCNQ2 reported as likely pathogenic

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Total variants: 106
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HGVS dbSNP
NC_000020.11:g.(?_63406624)_(63407395_?)del
NM_004518.5(KCNQ2):c.431G>A (p.Arg144Gln) rs796052618
NM_172107.2(KCNQ2):c.1539delC (p.Gly514Glufs) rs1064794686
NM_172107.2(KCNQ2):c.303_305delCCT (p.Leu102del) rs1064795435
NM_172107.3(KCNQ2):c.1003C>T (p.Pro335Ser) rs1555869700
NM_172107.3(KCNQ2):c.1016T>A (p.Leu339Gln) rs118192217
NM_172107.3(KCNQ2):c.1020C>G (p.Ile340Met) rs752073942
NM_172107.3(KCNQ2):c.1049A>T (p.Asn350Ile) rs772800738
NM_172107.3(KCNQ2):c.1057C>T (p.Arg353Cys) rs118192218
NM_172107.3(KCNQ2):c.1058G>A (p.Arg353His) rs796052645
NM_172107.3(KCNQ2):c.1067T>C (p.Leu356Pro) rs1057518772
NM_172107.3(KCNQ2):c.1067T>G (p.Leu356Arg) rs1057518772
NM_172107.3(KCNQ2):c.1075A>G (p.Thr359Ala) rs1064793334
NM_172107.3(KCNQ2):c.1080G>T (p.Trp360Cys)
NM_172107.3(KCNQ2):c.1178del (p.Leu393Argfs) rs1555860693
NM_172107.3(KCNQ2):c.1218-1G>A
NM_172107.3(KCNQ2):c.1588G>A (p.Glu530Lys) rs897976020
NM_172107.3(KCNQ2):c.1622G>C (p.Arg541Thr) rs1555853970
NM_172107.3(KCNQ2):c.1627G>A (p.Val543Met) rs794727134
NM_172107.3(KCNQ2):c.1631+5G>A rs1178354607
NM_172107.3(KCNQ2):c.1631G>A (p.Cys544Tyr) rs1057518492
NM_172107.3(KCNQ2):c.1639C>G (p.Arg547Gly) rs796052650
NM_172107.3(KCNQ2):c.1639C>T (p.Arg547Trp) rs796052650
NM_172107.3(KCNQ2):c.1658G>C (p.Arg553Pro)
NM_172107.3(KCNQ2):c.1679G>A (p.Arg560Gln) rs1057517919
NM_172107.3(KCNQ2):c.1700T>A (p.Val567Asp) rs1131691518
NM_172107.3(KCNQ2):c.1732A>G (p.Met578Val) rs1057516123
NM_172107.3(KCNQ2):c.1733T>C (p.Met578Thr) rs1555853524
NM_172107.3(KCNQ2):c.1742G>A (p.Arg581Gln) rs118192235
NM_172107.3(KCNQ2):c.1742G>T (p.Arg581Leu) rs118192235
NM_172107.3(KCNQ2):c.1864C>T (p.Arg622Trp) rs772405187
NM_172107.3(KCNQ2):c.1887+5G>A rs777916008
NM_172107.3(KCNQ2):c.1937A>G (p.Gln646Arg) rs766755499
NM_172107.3(KCNQ2):c.1A>G (p.Met1Val) rs118192185
NM_172107.3(KCNQ2):c.2173_2179dup (p.Gly727Alafs) rs1060500603
NM_172107.3(KCNQ2):c.2278delC (p.Arg760Alafs) rs1555850590
NM_172107.3(KCNQ2):c.2599_2603dup (p.Arg871Glyfs) rs1555850151
NM_172107.3(KCNQ2):c.26G>A (p.Gly9Asp)
NM_172107.3(KCNQ2):c.285C>A (p.Tyr95Ter) rs1555881741
NM_172107.3(KCNQ2):c.287A>C (p.His96Pro) rs868055567
NM_172107.3(KCNQ2):c.2T>A (p.Met1Lys) rs118192186
NM_172107.3(KCNQ2):c.311T>C (p.Phe104Ser) rs1064796940
NM_172107.3(KCNQ2):c.338C>T (p.Ser113Phe) rs796052616
NM_172107.3(KCNQ2):c.338_339delCCinsAT (p.Ser113Tyr) rs1555874555
NM_172107.3(KCNQ2):c.365C>T (p.Ser122Leu) rs118192194
NM_172107.3(KCNQ2):c.380A>G (p.Tyr127Cys) rs796052617
NM_172107.3(KCNQ2):c.430C>G (p.Arg144Gly) rs1555873985
NM_172107.3(KCNQ2):c.430C>T (p.Arg144Trp) rs1555873985
NM_172107.3(KCNQ2):c.476G>T (p.Gly159Val) rs1057516081
NM_172107.3(KCNQ2):c.506G>T (p.Cys169Phe) rs1064793392
NM_172107.3(KCNQ2):c.515A>G (p.Asp172Gly) rs1555873823
NM_172107.3(KCNQ2):c.544G>A (p.Val182Met) rs1085307920
NM_172107.3(KCNQ2):c.584C>T (p.Ser195Phe)
NM_172107.3(KCNQ2):c.599T>C (p.Leu200Pro) rs796052622
NM_172107.3(KCNQ2):c.601C>T (p.Arg201Cys) rs796052623
NM_172107.3(KCNQ2):c.602G>A (p.Arg201His) rs1057516085
NM_172107.3(KCNQ2):c.612G>T (p.Gln204His) rs796052625
NM_172107.3(KCNQ2):c.631A>G (p.Met211Val) rs1057524599
NM_172107.3(KCNQ2):c.635A>T (p.Asp212Val) rs118192202
NM_172107.3(KCNQ2):c.638G>A (p.Arg213Gln) rs397514581
NM_172107.3(KCNQ2):c.640C>T (p.Arg214Trp) rs28939684
NM_172107.3(KCNQ2):c.641G>C (p.Arg214Pro) rs1057518555
NM_172107.3(KCNQ2):c.657G>C (p.Lys219Asn) rs770290221
NM_172107.3(KCNQ2):c.682C>T (p.His228Tyr) rs1555873665
NM_172107.3(KCNQ2):c.693G>C (p.Glu231Asp) rs797044938
NM_172107.3(KCNQ2):c.693G>T (p.Glu231Asp) rs797044938
NM_172107.3(KCNQ2):c.701C>T (p.Thr234Ile) rs794727741
NM_172107.3(KCNQ2):c.704C>T (p.Ala235Val) rs797045638
NM_172107.3(KCNQ2):c.712A>C (p.Ile238Leu) rs747050726
NM_172107.3(KCNQ2):c.724T>G (p.Cys242Gly) rs1555871915
NM_172107.3(KCNQ2):c.740C>T (p.Ser247Leu) rs74315392
NM_172107.3(KCNQ2):c.743T>C (p.Phe248Ser) rs1057518068
NM_172107.3(KCNQ2):c.764A>G (p.Lys255Arg) rs1555871862
NM_172107.3(KCNQ2):c.776A>G (p.Asp259Gly) rs1057518489
NM_172107.3(KCNQ2):c.778C>T (p.His260Tyr) rs1555871832
NM_172107.3(KCNQ2):c.782T>C (p.Phe261Ser) rs796052631
NM_172107.3(KCNQ2):c.790T>A (p.Tyr264Asn) rs796052632
NM_172107.3(KCNQ2):c.793G>A (p.Ala265Thr) rs794727740
NM_172107.3(KCNQ2):c.794C>T (p.Ala265Val) rs587777219
NM_172107.3(KCNQ2):c.802C>T (p.Leu268Phe) rs1057516094
NM_172107.3(KCNQ2):c.806G>T (p.Trp269Leu) rs796052633
NM_172107.3(KCNQ2):c.811G>C (p.Gly271Arg) rs1064797284
NM_172107.3(KCNQ2):c.816+1G>A rs1057519124
NM_172107.3(KCNQ2):c.818T>A (p.Ile273Asn) rs796052635
NM_172107.3(KCNQ2):c.819C>G (p.Ile273Met) rs771282785
NM_172107.3(KCNQ2):c.829A>T (p.Thr277Ser) rs1555870554
NM_172107.3(KCNQ2):c.833T>A (p.Ile278Asn) rs1057523728
NM_172107.3(KCNQ2):c.833T>C (p.Ile278Thr) rs1057523728
NM_172107.3(KCNQ2):c.839A>G (p.Tyr280Cys)
NM_172107.3(KCNQ2):c.841G>C (p.Gly281Arg) rs794727813
NM_172107.3(KCNQ2):c.842G>A (p.Gly281Glu) rs1064795489
NM_172107.3(KCNQ2):c.844G>C (p.Asp282His) rs796052636
NM_172107.3(KCNQ2):c.856dup (p.Gln286Profs) rs1555870470
NM_172107.3(KCNQ2):c.873G>T (p.Arg291Ser) rs1057519535
NM_172107.3(KCNQ2):c.875_876delTCinsCCT (p.Leu292Profs) rs796052664
NM_172107.3(KCNQ2):c.902G>T (p.Gly301Val) rs1131691936
NM_172107.3(KCNQ2):c.917C>T (p.Ala306Val) rs864321707
NM_172107.3(KCNQ2):c.932T>A (p.Ile311Asn) rs1131691356
NM_172107.3(KCNQ2):c.935T>C (p.Leu312Ser) rs1057518619
NM_172107.3(KCNQ2):c.940T>C (p.Ser314Pro) rs1064795058
NM_172107.3(KCNQ2):c.956A>G (p.Lys319Arg) rs1057524860
NM_172107.3(KCNQ2):c.982C>A (p.His328Asn) rs1555869803
NM_172107.3(KCNQ2):c.986T>C (p.Phe329Ser) rs1064796535
NM_172107.3(KCNQ2):c.992A>C (p.Lys331Thr)
NM_172107.3(KCNQ2):c.994A>G (p.Arg332Gly) rs1555869758
NM_172107.3(KCNQ2):c.998G>A (p.Arg333Gln) rs118192216

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