ClinVar Miner

List of variants in gene KCNQ2 studied for not specified

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Gene type:
ClinVar version:
Total variants: 153
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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.1302-18_1302-17insTGTCTGTT rs1555854850 0.03520
NM_172107.4(KCNQ2):c.-11C>T rs182089624 0.00704
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.1887+17G>A rs369457896 0.00091
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.1253G>T (p.Gly418Val) rs201750561 0.00035
NM_172107.4(KCNQ2):c.297-18C>T rs370109710 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.2385C>T (p.His795=) rs143016981 0.00015
NM_172107.4(KCNQ2):c.1539C>T (p.Pro513=) rs376713245 0.00012
NM_172107.4(KCNQ2):c.1301+7C>T rs374877247 0.00011
NM_172107.4(KCNQ2):c.1632-18C>A rs368910668 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.1458C>T (p.Phe486=) rs141951341 0.00010
NM_172107.4(KCNQ2):c.2571C>T (p.Thr857=) rs764525788 0.00010
NM_172107.4(KCNQ2):c.2613G>T (p.Arg871Ser) rs587780369 0.00008
NM_172107.4(KCNQ2):c.-46C>G rs572005014 0.00006
NM_172107.4(KCNQ2):c.1764-6C>T rs118192239 0.00006
NM_172107.4(KCNQ2):c.2007G>A (p.Pro669=) rs542053755 0.00006
NM_172107.4(KCNQ2):c.1023+19C>T rs761878820 0.00004
NM_172107.4(KCNQ2):c.1023+9A>G rs201787699 0.00004
NM_172107.4(KCNQ2):c.1149-20C>T rs754997316 0.00004
NM_172107.4(KCNQ2):c.1301+15G>A rs571128290 0.00004
NM_172107.4(KCNQ2):c.1301+5C>T rs200872349 0.00004
NM_172107.4(KCNQ2):c.1602G>A (p.Pro534=) rs775089685 0.00004
NM_172107.4(KCNQ2):c.185C>T (p.Ala62Val) rs796052612 0.00004
NM_172107.4(KCNQ2):c.190G>T (p.Ala64Ser) rs780110473 0.00004
NM_172107.4(KCNQ2):c.2315C>T (p.Pro772Leu) rs774206764 0.00004
NM_172107.4(KCNQ2):c.-30C>T rs1386824941 0.00003
NM_172107.4(KCNQ2):c.1118+8C>T rs754114486 0.00003
NM_172107.4(KCNQ2):c.1161G>A (p.Pro387=) rs147453497 0.00003
NM_172107.4(KCNQ2):c.2072G>A (p.Arg691His) rs773194884 0.00003
NM_172107.4(KCNQ2):c.2208C>T (p.His736=) rs566020693 0.00003
NM_172107.4(KCNQ2):c.2260G>A (p.Ala754Thr) rs773822234 0.00003
NM_172107.4(KCNQ2):c.2604C>T (p.Ala868=) rs572267938 0.00003
NM_172107.4(KCNQ2):c.426C>T (p.Phe142=) rs780770793 0.00003
NM_172107.4(KCNQ2):c.1121C>T (p.Ser374Leu) rs777940990 0.00002
NM_172107.4(KCNQ2):c.1525+12C>T rs767442522 0.00002
NM_172107.4(KCNQ2):c.1631+19C>T rs770084619 0.00002
NM_172107.4(KCNQ2):c.552C>T (p.Ala184=) rs764119402 0.00002
NM_172107.4(KCNQ2):c.691-13G>A rs547887704 0.00002
NM_172107.4(KCNQ2):c.1024-19C>T rs752162043 0.00001
NM_172107.4(KCNQ2):c.1118+53A>G rs780492963 0.00001
NM_172107.4(KCNQ2):c.1119-19G>A rs1428713160 0.00001
NM_172107.4(KCNQ2):c.1164G>A (p.Leu388=) rs757288108 0.00001
NM_172107.4(KCNQ2):c.1209C>T (p.Leu403=) rs752280961 0.00001
NM_172107.4(KCNQ2):c.1248-4C>G rs772465626 0.00001
NM_172107.4(KCNQ2):c.1394G>A (p.Arg465Gln) rs1459078042 0.00001
NM_172107.4(KCNQ2):c.1512G>A (p.Arg504=) rs750635636 0.00001
NM_172107.4(KCNQ2):c.1631+18C>T rs773276077 0.00001
NM_172107.4(KCNQ2):c.1763+20G>A rs774318503 0.00001
NM_172107.4(KCNQ2):c.1833G>A (p.Ala611=) rs564630217 0.00001
NM_172107.4(KCNQ2):c.2000C>T (p.Ala667Val) rs563291132 0.00001
NM_172107.4(KCNQ2):c.2052C>T (p.Gly684=) rs764444302 0.00001
NM_172107.4(KCNQ2):c.2115G>A (p.Pro705=) rs754279476 0.00001
NM_172107.4(KCNQ2):c.2117C>A (p.Ala706Asp) rs980128101 0.00001
NM_172107.4(KCNQ2):c.2232G>A (p.Pro744=) rs547655324 0.00001
NM_172107.4(KCNQ2):c.2234C>T (p.Pro745Leu) rs1057518569 0.00001
NM_172107.4(KCNQ2):c.2331C>T (p.Pro777=) rs903555499 0.00001
NM_172107.4(KCNQ2):c.2332G>A (p.Glu778Lys) rs1264858438 0.00001
NM_172107.4(KCNQ2):c.2592C>T (p.Asp864=) rs536366837 0.00001
NM_172107.4(KCNQ2):c.297-19G>A rs755735309 0.00001
NM_172107.4(KCNQ2):c.321C>T (p.Leu107=) rs757187562 0.00001
NM_172107.4(KCNQ2):c.385C>T (p.Leu129=) rs1381622639 0.00001
NM_172107.4(KCNQ2):c.387+13G>T rs1340593322 0.00001
NM_172107.4(KCNQ2):c.387+9C>T rs751969586 0.00001
NM_172107.4(KCNQ2):c.515-15A>G rs778229459 0.00001
NM_172107.4(KCNQ2):c.607C>T (p.Leu203=) rs1057522309 0.00001
NM_172107.4(KCNQ2):c.642G>A (p.Arg214=) rs778319589 0.00001
NM_172107.4(KCNQ2):c.690+3G>A rs540295078 0.00001
NM_172107.4(KCNQ2):c.729C>T (p.Leu243=) rs755940771 0.00001
NM_172107.4(KCNQ2):c.78G>A (p.Gly26=) rs772452810 0.00001
NM_172107.4(KCNQ2):c.804C>T (p.Leu268=) rs775450377 0.00001
NM_172107.4(KCNQ2):c.816+9T>C rs772235691 0.00001
NM_172107.4(KCNQ2):c.817-5C>T rs774780027 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_172107.3(KCNQ2):c.1302-18_1302-17insCGTCTGTC rs1555854857
NM_172107.3(KCNQ2):c.1302-18_1302-17insTGCCTGTC rs1555854856
NM_172107.3(KCNQ2):c.1302-18_1302-17insTGTCCGTC rs1555854855
NM_172107.3(KCNQ2):c.1302-18_1302-17insTGTCTGCC rs1555854852
NM_172107.4(KCNQ2):c.-15C>A rs796052611
NM_172107.4(KCNQ2):c.-32A>G rs796052610
NM_172107.4(KCNQ2):c.-42G>A rs577705653
NM_172107.4(KCNQ2):c.-42G>T rs577705653
NM_172107.4(KCNQ2):c.1023+17C>G rs1057522826
NM_172107.4(KCNQ2):c.1024-6C>G rs796052608
NM_172107.4(KCNQ2):c.1057C>T (p.Arg353Cys) rs118192218
NM_172107.4(KCNQ2):c.1086C>T (p.Tyr362=)
NM_172107.4(KCNQ2):c.1118+11C>T rs138176417
NM_172107.4(KCNQ2):c.1118+69C>A rs142571798
NM_172107.4(KCNQ2):c.1118+69C>T rs142571798
NM_172107.4(KCNQ2):c.1119-8C>G rs1057523550
NM_172107.4(KCNQ2):c.1247+9C>T rs1057523283
NM_172107.4(KCNQ2):c.12G>C (p.Lys4Asn) rs776223064
NM_172107.4(KCNQ2):c.1302-11C>G rs371007020
NM_172107.4(KCNQ2):c.1302-11C>T rs371007020
NM_172107.4(KCNQ2):c.1302-18_1302-17insCTGTCTGA rs1555854852
NM_172107.4(KCNQ2):c.1302-18_1302-17insTCTGTCTC rs1555854853
NM_172107.4(KCNQ2):c.1302-18_1302-17insTCTGTCTT rs1555854853
NM_172107.4(KCNQ2):c.1302-20_1302-19insCTGTCTGC rs796052609
NM_172107.4(KCNQ2):c.1302-29TGTC[5] rs112006486
NM_172107.4(KCNQ2):c.1335C>T (p.Ser445=) rs1316650494
NM_172107.4(KCNQ2):c.1503C>G (p.Ala501=) rs1801545
NM_172107.4(KCNQ2):c.1526-8dup rs974502886
NM_172107.4(KCNQ2):c.1545G>T (p.Glu515Asp) rs117067974
NM_172107.4(KCNQ2):c.1632-12dup rs745393879
NM_172107.4(KCNQ2):c.1704C>G (p.Ile568Met) rs144909985
NM_172107.4(KCNQ2):c.1763+17C>A rs548507063
NM_172107.4(KCNQ2):c.1887+16C>A rs369329706
NM_172107.4(KCNQ2):c.1887+16C>T rs369329706
NM_172107.4(KCNQ2):c.1909C>T (p.Leu637=) rs1057521568
NM_172107.4(KCNQ2):c.1997C>T (p.Pro666Leu) rs762130930
NM_172107.4(KCNQ2):c.2102_2104del (p.Phe701del) rs758334927
NM_172107.4(KCNQ2):c.2138C>T (p.Pro713Leu) rs750333438
NM_172107.4(KCNQ2):c.2217G>C (p.Leu739=) rs1555850719
NM_172107.4(KCNQ2):c.2244C>T (p.His748=) rs376327268
NM_172107.4(KCNQ2):c.2344C>A (p.Arg782=) rs745990385
NM_172107.4(KCNQ2):c.288C>T (p.His96=) rs370799364
NM_172107.4(KCNQ2):c.297-15G>A rs775049542
NM_172107.4(KCNQ2):c.387+18del rs1064794936
NM_172107.4(KCNQ2):c.388-3C>T rs1555874020
NM_172107.4(KCNQ2):c.388-4G>T
NM_172107.4(KCNQ2):c.388-9C>G rs371784719
NM_172107.4(KCNQ2):c.436T>A (p.Trp146Arg) rs1555873982
NM_172107.4(KCNQ2):c.479G>C (p.Arg160Pro) rs1057518323
NM_172107.4(KCNQ2):c.603C>A (p.Arg201=) rs1057524529
NM_172107.4(KCNQ2):c.690+9C>T rs369881492
NM_172107.4(KCNQ2):c.714C>T (p.Ile238=) rs147882199
NM_172107.4(KCNQ2):c.766G>C (p.Gly256Arg) rs1057518500
NM_172107.4(KCNQ2):c.817-20T>C rs937599567
NM_172107.4(KCNQ2):c.910TTC[1] (p.Phe305del) rs118192212

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