ClinVar Miner

List of variants in gene KCNQ2 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 157
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HGVS dbSNP gnomAD frequency
NM_172107.4(KCNQ2):c.2031G>A (p.Arg677=) rs35647984 0.00445
NM_172107.4(KCNQ2):c.2544G>A (p.Pro848=) rs147274045 0.00264
NM_172107.4(KCNQ2):c.1763+47G>C rs77658489 0.00237
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.297-12282C>T rs547793052 0.00175
NM_172107.4(KCNQ2):c.*5930C>T rs527410863 0.00152
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.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.2266G>A (p.Gly756Ser) rs200909197 0.00034
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.1832C>T (p.Ala611Val) rs199644682 0.00015
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.1458C>T (p.Phe486=) rs141951341 0.00010
NM_172107.4(KCNQ2):c.2571C>T (p.Thr857=) rs764525788 0.00010
NM_172107.4(KCNQ2):c.2373G>A (p.Pro791=) rs749958721 0.00009
NM_172107.4(KCNQ2):c.1764-6C>T rs118192239 0.00006
NM_172107.4(KCNQ2):c.2409C>T (p.Ser803=) rs374526673 0.00006
NM_172107.4(KCNQ2):c.2572G>A (p.Gly858Ser) rs756609768 0.00006
NM_172107.4(KCNQ2):c.840C>T (p.Tyr280=) rs201556105 0.00006
NM_172107.4(KCNQ2):c.1887+5G>A rs777916008 0.00004
NM_172107.4(KCNQ2):c.2025C>G (p.Asp675Glu) rs553337046 0.00004
NM_172107.4(KCNQ2):c.918G>A (p.Ala306=) rs370777198 0.00004
NM_172107.4(KCNQ2):c.1161G>A (p.Pro387=) rs147453497 0.00003
NM_172107.4(KCNQ2):c.1405G>A (p.Ala469Thr) rs781778855 0.00003
NM_172107.4(KCNQ2):c.1483G>C (p.Ala495Pro) rs200251507 0.00003
NM_172107.4(KCNQ2):c.2067C>T (p.Ile689=) rs766273173 0.00003
NM_172107.4(KCNQ2):c.315C>T (p.Ser105=) rs200224824 0.00003
NM_172107.4(KCNQ2):c.1505C>T (p.Ala502Val) rs375264483 0.00002
NM_172107.4(KCNQ2):c.1526-4C>T rs1396502704 0.00002
NM_172107.4(KCNQ2):c.1842C>T (p.Pro614=) rs552807375 0.00002
NM_172107.4(KCNQ2):c.290C>T (p.Ala97Val) rs1131691879 0.00002
NM_172107.4(KCNQ2):c.552C>T (p.Ala184=) rs764119402 0.00002
NM_172107.4(KCNQ2):c.1229C>T (p.Pro410Leu) rs752579642 0.00001
NM_172107.4(KCNQ2):c.1290C>T (p.Pro430=) rs951436020 0.00001
NM_172107.4(KCNQ2):c.149G>A (p.Arg50His) rs1064797286 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.1929C>T (p.Ile643=) rs760044575 0.00001
NM_172107.4(KCNQ2):c.2019G>A (p.Pro673=) rs769646940 0.00001
NM_172107.4(KCNQ2):c.2068G>A (p.Val690Met) rs373902907 0.00001
NM_172107.4(KCNQ2):c.2071C>T (p.Arg691Cys) rs1223286018 0.00001
NM_172107.4(KCNQ2):c.2118C>T (p.Ala706=) rs777993694 0.00001
NM_172107.4(KCNQ2):c.2139G>A (p.Pro713=) rs765186960 0.00001
NM_172107.4(KCNQ2):c.2329C>T (p.Pro777Ser) rs748400155 0.00001
NM_172107.4(KCNQ2):c.2555C>T (p.Pro852Leu) rs745508762 0.00001
NM_172107.4(KCNQ2):c.78G>A (p.Gly26=) rs772452810 0.00001
NM_172107.4(KCNQ2):c.88G>A (p.Gly30Ser) rs915805727 0.00001
GRCh37/hg19 20q13.33(chr20:62037997-62103816)x1
GRCh37/hg19 20q13.33(chr20:62055530-62065256)x3
GRCh37/hg19 20q13.33(chr20:62103521-62103816)x1
NM_172107.4(KCNQ2):c.*5904C>G
NM_172107.4(KCNQ2):c.*5915C>T
NM_172107.4(KCNQ2):c.*5949G>A
NM_172107.4(KCNQ2):c.*5965A>G
NM_172107.4(KCNQ2):c.1014C>T (p.Gly338=)
NM_172107.4(KCNQ2):c.1020C>G (p.Ile340Met) rs752073942
NM_172107.4(KCNQ2):c.1023+94G>T
NM_172107.4(KCNQ2):c.1045A>G (p.Thr349Ala) rs2145680256
NM_172107.4(KCNQ2):c.1078T>G (p.Trp360Gly)
NM_172107.4(KCNQ2):c.1088A>G (p.Tyr363Cys) rs794727935
NM_172107.4(KCNQ2):c.1104del (p.Val369fs) rs2080902419
NM_172107.4(KCNQ2):c.1118+3A>G rs1057516112
NM_172107.4(KCNQ2):c.1118+69C>A rs142571798
NM_172107.4(KCNQ2):c.1133C>G (p.Thr378Ser) rs1260593444
NM_172107.4(KCNQ2):c.1137C>A (p.Tyr379Ter)
NM_172107.4(KCNQ2):c.1141dup (p.Ala381fs) rs2080781132
NM_172107.4(KCNQ2):c.1149-6_1149-5dup rs992228422
NM_172107.4(KCNQ2):c.1154T>A (p.Ile385Asn) rs1057519123
NM_172107.4(KCNQ2):c.1168C>G (p.Gln390Glu)
NM_172107.4(KCNQ2):c.1205G>A (p.Gly402Glu)
NM_172107.4(KCNQ2):c.1229dup (p.Pro411fs) rs886041339
NM_172107.4(KCNQ2):c.1248-75G>A
NM_172107.4(KCNQ2):c.1368del (p.Ser457fs) rs2145556956
NM_172107.4(KCNQ2):c.1464C>G (p.Asp488Glu)
NM_172107.4(KCNQ2):c.1503C>T (p.Ala501=) rs1801545
NM_172107.4(KCNQ2):c.153C>G (p.Gly51=) rs2145921682
NM_172107.4(KCNQ2):c.1583_1584del (p.Val528fs) rs2080211640
NM_172107.4(KCNQ2):c.1632-11C>G
NM_172107.4(KCNQ2):c.1639C>T (p.Arg547Trp) rs796052650
NM_172107.4(KCNQ2):c.1657C>T (p.Arg553Trp) rs759584387
NM_172107.4(KCNQ2):c.1658G>A (p.Arg553Gln) rs118192234
NM_172107.4(KCNQ2):c.1662G>T (p.Lys554Asn) rs267607198
NM_172107.4(KCNQ2):c.1687G>A (p.Asp563Asn) rs796052653
NM_172107.4(KCNQ2):c.1695G>A (p.Met565Ile) rs2080188612
NM_172107.4(KCNQ2):c.1699G>A (p.Val567Ile) rs748571840
NM_172107.4(KCNQ2):c.1763+1592G>A
NM_172107.4(KCNQ2):c.1777G>C (p.Val593Leu)
NM_172107.4(KCNQ2):c.1824G>A (p.Pro608=)
NM_172107.4(KCNQ2):c.1848C>T (p.Asp616=)
NM_172107.4(KCNQ2):c.1851del (p.Ser618fs) rs1601548976
NM_172107.4(KCNQ2):c.1869C>T (p.Leu623=) rs774516728
NM_172107.4(KCNQ2):c.1927A>C (p.Ile643Leu) rs1021032210
NM_172107.4(KCNQ2):c.1955C>T (p.Pro652Leu) rs770730662
NM_172107.4(KCNQ2):c.1964C>A (p.Thr655Asn) rs1459962137
NM_172107.4(KCNQ2):c.1965C>T (p.Thr655=)
NM_172107.4(KCNQ2):c.1A>G (p.Met1Val) rs118192185
NM_172107.4(KCNQ2):c.2090G>T (p.Gly697Val)
NM_172107.4(KCNQ2):c.2197G>A (p.Val733Met) rs756563523
NM_172107.4(KCNQ2):c.2244C>T (p.His748=) rs376327268
NM_172107.4(KCNQ2):c.2245G>A (p.Glu749Lys) rs796052658
NM_172107.4(KCNQ2):c.2281G>A (p.Ala761Thr) rs587780366
NM_172107.4(KCNQ2):c.2344C>A (p.Arg782=) rs745990385
NM_172107.4(KCNQ2):c.2355C>A (p.Asp785Glu) rs781121496
NM_172107.4(KCNQ2):c.2403del (p.Phe802fs) rs2145483535
NM_172107.4(KCNQ2):c.2419A>C (p.Ile807Leu) rs1202025157
NM_172107.4(KCNQ2):c.2493G>A (p.Arg831=) rs2145482676
NM_172107.4(KCNQ2):c.2547C>T (p.Cys849=)
NM_172107.4(KCNQ2):c.2583C>A (p.Pro861=) rs1601541414
NM_172107.4(KCNQ2):c.2618G>A (p.Ter873=)
NM_172107.4(KCNQ2):c.297-12232G>A
NM_172107.4(KCNQ2):c.297-12263G>A
NM_172107.4(KCNQ2):c.320T>C (p.Leu107Pro) rs1555874569
NM_172107.4(KCNQ2):c.379T>G (p.Tyr127Asp)
NM_172107.4(KCNQ2):c.388-1G>C
NM_172107.4(KCNQ2):c.394G>A (p.Val132Met) rs1600789325
NM_172107.4(KCNQ2):c.430C>T (p.Arg144Trp)
NM_172107.4(KCNQ2):c.431G>A (p.Arg144Gln) rs796052618
NM_172107.4(KCNQ2):c.498A>G (p.Lys166=) rs2145778834
NM_172107.4(KCNQ2):c.508G>C (p.Val170Leu) rs2145778732
NM_172107.4(KCNQ2):c.532G>A (p.Ala178Thr) rs1555873790
NM_172107.4(KCNQ2):c.553G>A (p.Ala185Thr) rs1600786349
NM_172107.4(KCNQ2):c.563A>C (p.Gln188Pro) rs1064797285
NM_172107.4(KCNQ2):c.587C>T (p.Ala196Val) rs118192199
NM_172107.4(KCNQ2):c.593G>A (p.Arg198Gln) rs796052621
NM_172107.4(KCNQ2):c.601C>T (p.Arg201Cys) rs796052623
NM_172107.4(KCNQ2):c.602G>A (p.Arg201His) rs1057516085
NM_172107.4(KCNQ2):c.619C>T (p.Arg207Trp) rs74315391
NM_172107.4(KCNQ2):c.629G>A (p.Arg210His) rs886041262
NM_172107.4(KCNQ2):c.637C>T (p.Arg213Trp) rs118192203
NM_172107.4(KCNQ2):c.640C>T (p.Arg214Trp) rs28939684
NM_172107.4(KCNQ2):c.649_650del (p.Thr217fs) rs2081359429
NM_172107.4(KCNQ2):c.703G>A (p.Ala235Thr) rs2081192615
NM_172107.4(KCNQ2):c.740C>T (p.Ser247Leu) rs74315392
NM_172107.4(KCNQ2):c.748G>T (p.Val250Leu) rs2081190344
NM_172107.4(KCNQ2):c.766G>T (p.Gly256Trp)
NM_172107.4(KCNQ2):c.768G>A (p.Gly256=)
NM_172107.4(KCNQ2):c.793G>A (p.Ala265Thr) rs794727740
NM_172107.4(KCNQ2):c.794C>T (p.Ala265Val) rs587777219
NM_172107.4(KCNQ2):c.802C>T (p.Leu268Phe) rs1057516094
NM_172107.4(KCNQ2):c.811G>C (p.Gly271Arg) rs1064797284
NM_172107.4(KCNQ2):c.815T>C (p.Leu272Pro) rs1057519227
NM_172107.4(KCNQ2):c.816+1G>A rs1057519124
NM_172107.4(KCNQ2):c.816+1G>T rs1057519124
NM_172107.4(KCNQ2):c.821C>T (p.Thr274Met) rs727503974
NM_172107.4(KCNQ2):c.854C>T (p.Pro285Leu) rs1057516097
NM_172107.4(KCNQ2):c.881C>T (p.Ala294Val)
NM_172107.4(KCNQ2):c.910TTC[1] (p.Phe305del) rs118192212
NM_172107.4(KCNQ2):c.937G>A (p.Gly313Arg)
NM_172107.4(KCNQ2):c.973A>G (p.Arg325Gly) rs1057516103

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