ClinVar Miner

List of variants in gene KCNQ2 reported as likely benign by GeneDx

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Gene type:
ClinVar version:
Total variants: 160
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HGVS dbSNP gnomAD frequency
NM_172107.4(KCNQ2):c.1526-107C>T rs76685684 0.01898
NM_172107.4(KCNQ2):c.691-212A>G rs867571468 0.01855
NM_172107.4(KCNQ2):c.1302-211G>A rs544274770 0.01338
NM_172107.4(KCNQ2):c.296+253T>G rs370862043 0.01320
NM_172107.4(KCNQ2):c.928-159G>A rs7270837 0.01307
NM_172107.4(KCNQ2):c.1302-208C>G rs573812167 0.01270
NM_172107.4(KCNQ2):c.1302-207C>T rs555641778 0.01249
NC_000020.11:g.63472829_63472830insGGGG rs1157668433 0.01193
NM_172107.4(KCNQ2):c.515-38C>T rs140255247 0.00987
NM_172107.4(KCNQ2):c.691-30G>T rs201650692 0.00944
NM_172107.4(KCNQ2):c.1119-324C>T rs374013648 0.00894
NM_172107.4(KCNQ2):c.388-319T>C rs11475391 0.00880
NM_172107.4(KCNQ2):c.1525+199A>G rs112733886 0.00756
NM_172107.4(KCNQ2):c.1631+64G>C rs575049219 0.00638
NM_172107.4(KCNQ2):c.1247+28G>A rs142076272 0.00596
NM_172107.4(KCNQ2):c.817-212C>T rs573485581 0.00460
NM_172107.4(KCNQ2):c.1526-126C>T rs191082039 0.00391
NM_172107.4(KCNQ2):c.388-51C>T rs112315649 0.00391
NM_172107.4(KCNQ2):c.1247+304C>T rs545236920 0.00313
NM_172107.4(KCNQ2):c.1764-294C>T rs142360631 0.00302
NM_172107.4(KCNQ2):c.690+227A>G rs188293543 0.00245
NM_172107.4(KCNQ2):c.816+53C>T rs144570836 0.00243
NM_172107.4(KCNQ2):c.1148+192C>T rs139097381 0.00238
NM_172107.4(KCNQ2):c.1218-33C>T rs143115785 0.00037
NM_172107.4(KCNQ2):c.1253G>T (p.Gly418Val) rs201750561 0.00035
NM_172107.4(KCNQ2):c.1024-37C>T rs369242219 0.00030
NM_172107.4(KCNQ2):c.1149-30G>A rs375983801 0.00017
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.1698C>T (p.Asp566=) rs768228902 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.297-10C>G rs763193303 0.00013
NM_172107.4(KCNQ2):c.2265C>T (p.Tyr755=) rs563437123 0.00011
NM_172107.4(KCNQ2):c.1887+37G>C rs566808083 0.00010
NM_172107.4(KCNQ2):c.2330C>G (p.Pro777Arg) rs142729516 0.00010
NM_172107.4(KCNQ2):c.2613G>T (p.Arg871Ser) rs587780369 0.00008
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.2572G>A (p.Gly858Ser) rs756609768 0.00006
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.2001G>A (p.Ala667=) rs760711257 0.00005
NM_172107.4(KCNQ2):c.2377G>T (p.Val793Leu) rs377227909 0.00005
NM_172107.4(KCNQ2):c.1023+19C>T rs761878820 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.2173C>T (p.Arg725Cys) rs768284828 0.00004
NM_172107.4(KCNQ2):c.2281G>T (p.Ala761Ser) rs587780366 0.00004
NM_172107.4(KCNQ2):c.2469C>T (p.Ala823=) rs758071891 0.00004
NM_172107.4(KCNQ2):c.918G>A (p.Ala306=) rs370777198 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.1137C>T (p.Tyr379=) rs781144303 0.00003
NM_172107.4(KCNQ2):c.1405G>A (p.Ala469Thr) rs781778855 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.2604C>T (p.Ala868=) rs572267938 0.00003
NM_172107.4(KCNQ2):c.426C>T (p.Phe142=) rs780770793 0.00003
NM_172107.4(KCNQ2):c.691-5C>T rs886056921 0.00003
NM_172107.4(KCNQ2):c.1121C>T (p.Ser374Leu) rs777940990 0.00002
NM_172107.4(KCNQ2):c.1233G>A (p.Pro411=) rs757596960 0.00002
NM_172107.4(KCNQ2):c.1505C>T (p.Ala502Val) rs375264483 0.00002
NM_172107.4(KCNQ2):c.1525+12C>T rs767442522 0.00002
NM_172107.4(KCNQ2):c.1572C>T (p.Pro524=) rs779813699 0.00002
NM_172107.4(KCNQ2):c.1631+19C>T rs770084619 0.00002
NM_172107.4(KCNQ2):c.2312C>T (p.Thr771Ile) rs759258191 0.00002
NM_172107.4(KCNQ2):c.2316G>A (p.Pro772=) rs587780367 0.00002
NM_172107.4(KCNQ2):c.531C>T (p.Ile177=) rs1170316817 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.*3C>T rs773433015 0.00001
NM_172107.4(KCNQ2):c.*6C>T rs746924909 0.00001
NM_172107.4(KCNQ2):c.1024-19C>T rs752162043 0.00001
NM_172107.4(KCNQ2):c.1041C>T (p.Tyr347=) rs770904422 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.1290C>T (p.Pro430=) rs951436020 0.00001
NM_172107.4(KCNQ2):c.1295G>A (p.Arg432His) rs758074713 0.00001
NM_172107.4(KCNQ2):c.1506G>A (p.Ala502=) rs780293757 0.00001
NM_172107.4(KCNQ2):c.1512G>A (p.Arg504=) rs750635636 0.00001
NM_172107.4(KCNQ2):c.1526-6C>T rs763503121 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.2052C>T (p.Gly684=) rs764444302 0.00001
NM_172107.4(KCNQ2):c.2115G>A (p.Pro705=) rs754279476 0.00001
NM_172107.4(KCNQ2):c.2118C>T (p.Ala706=) rs777993694 0.00001
NM_172107.4(KCNQ2):c.2209G>A (p.Gly737Ser) rs755013341 0.00001
NM_172107.4(KCNQ2):c.2232G>A (p.Pro744=) rs547655324 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.2463C>T (p.Tyr821=) rs781323405 0.00001
NM_172107.4(KCNQ2):c.2466G>A (p.Ala822=) rs779798310 0.00001
NM_172107.4(KCNQ2):c.2564C>T (p.Ser855Leu) rs12481082 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+10G>A rs371918220 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.816+9T>C rs772235691 0.00001
NM_172107.4(KCNQ2):c.817-11C>T rs555632610 0.00001
NM_172107.4(KCNQ2):c.817-5C>T rs774780027 0.00001
NM_172107.4(KCNQ2):c.-150C>A rs554261385
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.1118+11C>T rs138176417
NM_172107.4(KCNQ2):c.1119-8C>G rs1057523550
NM_172107.4(KCNQ2):c.1209C>G (p.Leu403=) rs752280961
NM_172107.4(KCNQ2):c.1217+46_1217+48del rs553228574
NM_172107.4(KCNQ2):c.1218-12dup rs761233540
NM_172107.4(KCNQ2):c.1247+9C>T rs1057523283
NM_172107.4(KCNQ2):c.1302-27_1302-26insTCTGTTTG rs745798144
NM_172107.4(KCNQ2):c.1329C>G (p.Val443=) rs934839370
NM_172107.4(KCNQ2):c.1335C>T (p.Ser445=) rs1316650494
NM_172107.4(KCNQ2):c.1503C>T (p.Ala501=) rs1801545
NM_172107.4(KCNQ2):c.1525+147C>T rs143936389
NM_172107.4(KCNQ2):c.1526-6C>A rs763503121
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.1887+16C>T rs369329706
NM_172107.4(KCNQ2):c.1909C>T (p.Leu637=) rs1057521568
NM_172107.4(KCNQ2):c.1955C>T (p.Pro652Leu) rs770730662
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.387+24G>C rs113724995
NM_172107.4(KCNQ2):c.387+24G>T rs113724995
NM_172107.4(KCNQ2):c.388-3C>T rs1555874020
NM_172107.4(KCNQ2):c.388-9C>G rs371784719
NM_172107.4(KCNQ2):c.388-9C>T rs371784719
NM_172107.4(KCNQ2):c.514+172_514+173del rs144357469
NM_172107.4(KCNQ2):c.603C>A (p.Arg201=) rs1057524529
NM_172107.4(KCNQ2):c.690+9C>T rs369881492
NM_172107.4(KCNQ2):c.691-191GTG[4] rs749330439
NM_172107.4(KCNQ2):c.691-311GTG[7] rs747940691
NM_172107.4(KCNQ2):c.691-31_691-29del rs374464103
NM_172107.4(KCNQ2):c.691-320A>G rs868435946
NM_172107.4(KCNQ2):c.691-329GTG[2] rs1367220510
NM_172107.4(KCNQ2):c.817-20T>C rs937599567

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