ClinVar Miner

List of variants in gene KCNQ2 studied for Inborn genetic diseases

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Gene type:
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Total variants: 152
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HGVS dbSNP gnomAD frequency
NM_172107.4(KCNQ2):c.2339A>C (p.Asn780Thr) rs1801475 0.59301
NM_172107.4(KCNQ2):c.912C>T (p.Phe304=) rs2297385 0.07323
NM_172107.4(KCNQ2):c.2238T>A (p.Pro746=) rs1801471 0.07011
NM_172107.4(KCNQ2):c.2106G>A (p.Ser702=) rs187252584 0.00635
NM_172107.4(KCNQ2):c.1689C>T (p.Asp563=) rs35450031 0.00509
NM_172107.4(KCNQ2):c.2235G>A (p.Pro745=) rs139587368 0.00506
NM_172107.4(KCNQ2):c.2031G>A (p.Arg677=) rs35647984 0.00445
NM_172107.4(KCNQ2):c.1719C>T (p.Ala573=) rs61737409 0.00329
NM_172107.4(KCNQ2):c.2544G>A (p.Pro848=) rs147274045 0.00264
NM_172107.4(KCNQ2):c.1545G>C (p.Glu515Asp) rs117067974 0.00220
NM_172107.4(KCNQ2):c.*4G>A rs1801508 0.00207
NM_172107.4(KCNQ2):c.303C>G (p.Leu101=) rs145415996 0.00166
NM_172107.4(KCNQ2):c.570C>T (p.Asn190=) rs116087798 0.00145
NM_172107.4(KCNQ2):c.1065C>T (p.Asp355=) rs200395340 0.00105
NM_172107.4(KCNQ2):c.1348G>A (p.Val450Met) rs146492238 0.00096
NM_172107.4(KCNQ2):c.2264A>G (p.Tyr755Cys) rs3746366 0.00089
NM_172107.4(KCNQ2):c.81G>A (p.Leu27=) rs373897282 0.00054
NM_172107.4(KCNQ2):c.1185G>A (p.Arg395=) rs35430888 0.00052
NM_172107.4(KCNQ2):c.1827C>T (p.Ala609=) rs369438374 0.00046
NM_172107.4(KCNQ2):c.2529C>T (p.Ser843=) rs140674819 0.00045
NM_172107.4(KCNQ2):c.795G>A (p.Ala265=) rs148654588 0.00037
NM_172107.4(KCNQ2):c.1253G>T (p.Gly418Val) rs201750561 0.00035
NM_172107.4(KCNQ2):c.2266G>A (p.Gly756Ser) rs200909197 0.00034
NM_172107.4(KCNQ2):c.2535C>G (p.Leu845=) rs199621855 0.00032
NM_172107.4(KCNQ2):c.1419C>T (p.Leu473=) rs370155790 0.00031
NM_172107.4(KCNQ2):c.2065A>C (p.Ile689Leu) rs201701585 0.00022
NM_172107.4(KCNQ2):c.2049C>T (p.His683=) rs150982653 0.00016
NM_172107.4(KCNQ2):c.861C>G (p.Thr287=) rs11698044 0.00016
NM_172107.4(KCNQ2):c.1832C>T (p.Ala611Val) rs199644682 0.00015
NM_172107.4(KCNQ2):c.2385C>T (p.His795=) rs143016981 0.00015
NM_172107.4(KCNQ2):c.792C>T (p.Tyr264=) rs143399744 0.00015
NM_172107.4(KCNQ2):c.1814C>G (p.Thr605Ser) rs751334184 0.00013
NM_172107.4(KCNQ2):c.1281A>G (p.Gly427=) rs781056597 0.00011
NM_172107.4(KCNQ2):c.2265C>T (p.Tyr755=) rs563437123 0.00011
NM_172107.4(KCNQ2):c.2556G>A (p.Pro852=) rs3810472 0.00011
NM_172107.4(KCNQ2):c.754T>C (p.Leu252=) rs370174915 0.00011
NM_172107.4(KCNQ2):c.1294C>T (p.Arg432Cys) rs368720575 0.00010
NM_172107.4(KCNQ2):c.1458C>T (p.Phe486=) rs141951341 0.00010
NM_172107.4(KCNQ2):c.2330C>G (p.Pro777Arg) rs142729516 0.00010
NM_172107.4(KCNQ2):c.2571C>T (p.Thr857=) rs764525788 0.00010
NM_172107.4(KCNQ2):c.2560C>T (p.Arg854Cys) rs373536274 0.00009
NM_172107.4(KCNQ2):c.2119G>A (p.Ala707Thr) rs543477138 0.00007
NM_172107.4(KCNQ2):c.774C>T (p.Asn258=) rs770187706 0.00006
NM_172107.4(KCNQ2):c.840C>T (p.Tyr280=) rs201556105 0.00006
NM_172107.4(KCNQ2):c.2377G>T (p.Val793Leu) rs377227909 0.00005
NM_172107.4(KCNQ2):c.1259C>T (p.Pro420Leu) rs139164500 0.00004
NM_172107.4(KCNQ2):c.1602G>A (p.Pro534=) rs775089685 0.00004
NM_172107.4(KCNQ2):c.1704C>T (p.Ile568=) rs144909985 0.00004
NM_172107.4(KCNQ2):c.185C>T (p.Ala62Val) rs796052612 0.00004
NM_172107.4(KCNQ2):c.2253G>A (p.Ser751=) rs552151799 0.00004
NM_172107.4(KCNQ2):c.627C>A (p.Ile209=) rs749602639 0.00004
NM_172107.4(KCNQ2):c.918G>A (p.Ala306=) rs370777198 0.00004
NM_172107.4(KCNQ2):c.2171C>T (p.Pro724Leu) rs761544880 0.00003
NM_172107.4(KCNQ2):c.1056G>A (p.Ser352=) rs769146180 0.00002
NM_172107.4(KCNQ2):c.1121C>T (p.Ser374Leu) rs777940990 0.00002
NM_172107.4(KCNQ2):c.1587C>T (p.Thr529=) rs753417293 0.00002
NM_172107.4(KCNQ2):c.1605C>T (p.Gly535=) rs767958822 0.00002
NM_172107.4(KCNQ2):c.1842C>T (p.Pro614=) rs552807375 0.00002
NM_172107.4(KCNQ2):c.681C>T (p.Ala227=) rs1472366685 0.00002
NM_172107.4(KCNQ2):c.1232C>T (p.Pro411Leu) rs754682495 0.00001
NM_172107.4(KCNQ2):c.1270C>T (p.Pro424Ser) rs748120886 0.00001
NM_172107.4(KCNQ2):c.1486T>A (p.Phe496Ile) rs762518963 0.00001
NM_172107.4(KCNQ2):c.1512G>A (p.Arg504=) rs750635636 0.00001
NM_172107.4(KCNQ2):c.1573T>A (p.Cys525Ser) rs371162714 0.00001
NM_172107.4(KCNQ2):c.1588G>A (p.Glu530Lys) rs897976020 0.00001
NM_172107.4(KCNQ2):c.1627G>A (p.Val543Met) rs794727134 0.00001
NM_172107.4(KCNQ2):c.1810C>T (p.Arg604Cys) rs780942181 0.00001
NM_172107.4(KCNQ2):c.1833G>A (p.Ala611=) rs564630217 0.00001
NM_172107.4(KCNQ2):c.1898T>C (p.Met633Thr) rs777332271 0.00001
NM_172107.4(KCNQ2):c.1991C>T (p.Pro664Leu) rs765493484 0.00001
NM_172107.4(KCNQ2):c.2108C>T (p.Ala703Val) rs779430808 0.00001
NM_172107.4(KCNQ2):c.2329C>T (p.Pro777Ser) rs748400155 0.00001
NM_172107.4(KCNQ2):c.2331C>T (p.Pro777=) rs903555499 0.00001
NM_172107.4(KCNQ2):c.2358G>A (p.Thr786=) rs559610397 0.00001
NM_172107.4(KCNQ2):c.2504C>T (p.Ala835Val) rs754310883 0.00001
NM_172107.4(KCNQ2):c.2565G>A (p.Ser855=) rs951286775 0.00001
NM_172107.4(KCNQ2):c.2611A>G (p.Arg871Gly) rs1006613253 0.00001
NM_172107.4(KCNQ2):c.414C>T (p.Gly138=) rs762713462 0.00001
NM_172107.4(KCNQ2):c.804C>T (p.Leu268=) rs775450377 0.00001
NM_172107.4(KCNQ2):c.822G>A (p.Thr274=) rs377485599 0.00001
NM_172107.4(KCNQ2):c.888C>T (p.Thr296=) rs370760854 0.00001
NM_172107.4(KCNQ2):c.88G>A (p.Gly30Ser) rs915805727 0.00001
NM_172107.4(KCNQ2):c.1026G>A (p.Ser342=)
NM_172107.4(KCNQ2):c.1089C>G (p.Tyr363Ter) rs1185859533
NM_172107.4(KCNQ2):c.1229dup (p.Pro411fs) rs886041339
NM_172107.4(KCNQ2):c.128C>T (p.Ala43Val) rs749554385
NM_172107.4(KCNQ2):c.1342C>T (p.Arg448Ter) rs118192226
NM_172107.4(KCNQ2):c.1378G>A (p.Ala460Thr) rs1284566908
NM_172107.4(KCNQ2):c.1414A>G (p.Ser472Gly)
NM_172107.4(KCNQ2):c.1503C>G (p.Ala501=) rs1801545
NM_172107.4(KCNQ2):c.1503C>T (p.Ala501=) rs1801545
NM_172107.4(KCNQ2):c.1575C>T (p.Cys525=)
NM_172107.4(KCNQ2):c.1632-5T>A
NM_172107.4(KCNQ2):c.1678C>T (p.Arg560Trp) rs773171451
NM_172107.4(KCNQ2):c.1687G>A (p.Asp563Asn) rs796052653
NM_172107.4(KCNQ2):c.1742G>A (p.Arg581Gln) rs118192235
NM_172107.4(KCNQ2):c.1794G>A (p.Ala598=) rs779158152
NM_172107.4(KCNQ2):c.17G>C (p.Arg6Pro) rs866843916
NM_172107.4(KCNQ2):c.1823del (p.Pro608fs) rs2145497168
NM_172107.4(KCNQ2):c.1834G>A (p.Glu612Lys) rs1180808546
NM_172107.4(KCNQ2):c.188G>T (p.Gly63Val)
NM_172107.4(KCNQ2):c.1955C>T (p.Pro652Leu) rs770730662
NM_172107.4(KCNQ2):c.1962_1963del (p.Glu654fs)
NM_172107.4(KCNQ2):c.199C>T (p.Pro67Ser) rs972841085
NM_172107.4(KCNQ2):c.2023G>A (p.Asp675Asn)
NM_172107.4(KCNQ2):c.2076C>T (p.Ser692=) rs1568861472
NM_172107.4(KCNQ2):c.2111C>T (p.Pro704Leu)
NM_172107.4(KCNQ2):c.2114del (p.Pro705fs) rs1555850868
NM_172107.4(KCNQ2):c.2121G>A (p.Ala707=) rs1269199299
NM_172107.4(KCNQ2):c.2126_2127del (p.Pro709fs) rs796052667
NM_172107.4(KCNQ2):c.2178G>A (p.Gln726=)
NM_172107.4(KCNQ2):c.2210G>A (p.Gly737Asp) rs751657917
NM_172107.4(KCNQ2):c.2221C>T (p.Arg741Cys) rs2079965070
NM_172107.4(KCNQ2):c.2281G>A (p.Ala761Thr) rs587780366
NM_172107.4(KCNQ2):c.2328C>T (p.Pro776=) rs1601542678
NM_172107.4(KCNQ2):c.2505G>C (p.Ala835=) rs764615246
NM_172107.4(KCNQ2):c.2566G>C (p.Ala856Pro)
NM_172107.4(KCNQ2):c.2593G>A (p.Val865Met)
NM_172107.4(KCNQ2):c.2599_2603dup (p.Arg871fs) rs1555850151
NM_172107.4(KCNQ2):c.2612G>A (p.Arg871Lys) rs2079942562
NM_172107.4(KCNQ2):c.401del (p.Ile134fs)
NM_172107.4(KCNQ2):c.430C>G (p.Arg144Gly) rs1555873985
NM_172107.4(KCNQ2):c.430C>T (p.Arg144Trp)
NM_172107.4(KCNQ2):c.439G>C (p.Ala147Pro) rs1568941739
NM_172107.4(KCNQ2):c.494G>A (p.Arg165Gln)
NM_172107.4(KCNQ2):c.528_548dup (p.Leu183_Ala184insIleAlaSerIleAlaValLeu)
NM_172107.4(KCNQ2):c.555C>T (p.Ala185=) rs182946332
NM_172107.4(KCNQ2):c.55A>C (p.Lys19Gln)
NM_172107.4(KCNQ2):c.584C>T (p.Ser195Phe) rs1568940442
NM_172107.4(KCNQ2):c.593G>A (p.Arg198Gln) rs796052621
NM_172107.4(KCNQ2):c.611_619del (p.Gln204_Leu206del)
NM_172107.4(KCNQ2):c.612G>C (p.Gln204His) rs796052625
NM_172107.4(KCNQ2):c.619C>T (p.Arg207Trp) rs74315391
NM_172107.4(KCNQ2):c.637C>T (p.Arg213Trp) rs118192203
NM_172107.4(KCNQ2):c.638G>A (p.Arg213Gln)
NM_172107.4(KCNQ2):c.693G>C (p.Glu231Asp) rs797044938
NM_172107.4(KCNQ2):c.693G>T (p.Glu231Asp) rs797044938
NM_172107.4(KCNQ2):c.704C>T (p.Ala235Val) rs797045638
NM_172107.4(KCNQ2):c.705C>T (p.Ala235=) rs1291672036
NM_172107.4(KCNQ2):c.710A>G (p.Tyr237Cys) rs797044935
NM_172107.4(KCNQ2):c.712A>C (p.Ile238Leu) rs747050726
NM_172107.4(KCNQ2):c.714C>T (p.Ile238=) rs147882199
NM_172107.4(KCNQ2):c.740C>T (p.Ser247Leu) rs74315392
NM_172107.4(KCNQ2):c.782T>C (p.Phe261Ser) rs796052631
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.835G>T (p.Gly279Cys) rs1057516096
NM_172107.4(KCNQ2):c.839A>G (p.Tyr280Cys) rs1568927820
NM_172107.4(KCNQ2):c.83A>T (p.Asp28Val)
NM_172107.4(KCNQ2):c.873G>C (p.Arg291Ser) rs1057519535
NM_172107.4(KCNQ2):c.916G>A (p.Ala306Thr) rs74315390
NM_172107.4(KCNQ2):c.994A>G (p.Arg332Gly) rs1555869758

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