ClinVar Miner

List of variants in gene KCNQ2 reported as uncertain significance for not provided

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Gene type:
ClinVar version:
Total variants: 170
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HGVS dbSNP gnomAD frequency
NM_172107.4(KCNQ2):c.1827C>T (p.Ala609=) rs369438374 0.00046
NM_172107.4(KCNQ2):c.795G>A (p.Ala265=) rs148654588 0.00037
NM_172107.4(KCNQ2):c.1814C>G (p.Thr605Ser) rs751334184 0.00013
NM_172107.4(KCNQ2):c.1301+7C>T rs374877247 0.00011
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.2087C>T (p.Thr696Met) rs570139975 0.00005
NM_172107.4(KCNQ2):c.1259C>T (p.Pro420Leu) rs139164500 0.00004
NM_172107.4(KCNQ2):c.1347C>T (p.Gly449=) rs771845478 0.00004
NM_172107.4(KCNQ2):c.1887+5G>A rs777916008 0.00004
NM_172107.4(KCNQ2):c.1888-3C>T rs772971971 0.00004
NM_172107.4(KCNQ2):c.1940G>A (p.Arg647Gln) rs765583552 0.00004
NM_172107.4(KCNQ2):c.2025C>G (p.Asp675Glu) rs553337046 0.00004
NM_172107.4(KCNQ2):c.1301+6G>A rs377304987 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.1505C>T (p.Ala502Val) rs375264483 0.00002
NM_172107.4(KCNQ2):c.1842C>T (p.Pro614=) rs552807375 0.00002
NM_172107.4(KCNQ2):c.2299C>T (p.Arg767Trp) rs755823361 0.00002
NM_172107.4(KCNQ2):c.2316G>A (p.Pro772=) rs587780367 0.00002
NM_172107.4(KCNQ2):c.2543C>T (p.Pro848Leu) rs377633507 0.00002
NM_172107.4(KCNQ2):c.290C>T (p.Ala97Val) rs1131691879 0.00002
NM_172107.4(KCNQ2):c.1099G>A (p.Val367Ile) rs149523683 0.00001
NM_172107.4(KCNQ2):c.1209C>T (p.Leu403=) rs752280961 0.00001
NM_172107.4(KCNQ2):c.1216A>G (p.Arg406Gly) rs1240338507 0.00001
NM_172107.4(KCNQ2):c.1218-18T>G rs908502131 0.00001
NM_172107.4(KCNQ2):c.1229C>T (p.Pro410Leu) rs752579642 0.00001
NM_172107.4(KCNQ2):c.1270C>T (p.Pro424Ser) rs748120886 0.00001
NM_172107.4(KCNQ2):c.1368G>A (p.Gly456=) rs748785128 0.00001
NM_172107.4(KCNQ2):c.1408G>A (p.Asp470Asn) rs751907059 0.00001
NM_172107.4(KCNQ2):c.1477C>T (p.Arg493Cys) rs759338332 0.00001
NM_172107.4(KCNQ2):c.1489C>T (p.Arg497Cys) rs540461827 0.00001
NM_172107.4(KCNQ2):c.149G>A (p.Arg50His) rs1064797286 0.00001
NM_172107.4(KCNQ2):c.1511G>A (p.Arg504Gln) rs758575791 0.00001
NM_172107.4(KCNQ2):c.1540G>A (p.Gly514Arg) rs772669887 0.00001
NM_172107.4(KCNQ2):c.1573T>A (p.Cys525Ser) rs371162714 0.00001
NM_172107.4(KCNQ2):c.1612G>A (p.Val538Ile) rs1186571905 0.00001
NM_172107.4(KCNQ2):c.1627G>A (p.Val543Met) rs794727134 0.00001
NM_172107.4(KCNQ2):c.1633G>A (p.Val545Ile) rs757608181 0.00001
NM_172107.4(KCNQ2):c.1640G>A (p.Arg547Gln) rs760984494 0.00001
NM_172107.4(KCNQ2):c.1793C>T (p.Ala598Val) rs746079131 0.00001
NM_172107.4(KCNQ2):c.1800G>A (p.Thr600=) rs587780368 0.00001
NM_172107.4(KCNQ2):c.1810C>T (p.Arg604Cys) rs780942181 0.00001
NM_172107.4(KCNQ2):c.1864C>T (p.Arg622Trp) rs772405187 0.00001
NM_172107.4(KCNQ2):c.2019G>A (p.Pro673=) rs769646940 0.00001
NM_172107.4(KCNQ2):c.2052C>T (p.Gly684=) rs764444302 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.2117C>A (p.Ala706Asp) rs980128101 0.00001
NM_172107.4(KCNQ2):c.2279G>A (p.Arg760His) rs758530960 0.00001
NM_172107.4(KCNQ2):c.2280C>T (p.Arg760=) rs753696924 0.00001
NM_172107.4(KCNQ2):c.22G>A (p.Gly8Ser) rs769045070 0.00001
NM_172107.4(KCNQ2):c.2344C>T (p.Arg782Trp) rs745990385 0.00001
NM_172107.4(KCNQ2):c.2358G>A (p.Thr786=) rs559610397 0.00001
NM_172107.4(KCNQ2):c.2465C>T (p.Ala822Val) rs796052661 0.00001
NM_172107.4(KCNQ2):c.2555C>T (p.Pro852Leu) rs745508762 0.00001
NM_172107.4(KCNQ2):c.2611A>G (p.Arg871Gly) rs1006613253 0.00001
NM_172107.4(KCNQ2):c.322G>A (p.Val108Met) rs749164961 0.00001
NM_172107.4(KCNQ2):c.415G>A (p.Val139Met) rs773083197 0.00001
NM_172107.4(KCNQ2):c.485A>G (p.Lys162Arg) rs754250122 0.00001
NM_172107.4(KCNQ2):c.921G>A (p.Leu307=) rs539406802 0.00001
NM_172107.4(KCNQ2):c.1043C>T (p.Ala348Val) rs1568916986
NM_172107.4(KCNQ2):c.1065C>G (p.Asp355Glu) rs200395340
NM_172107.4(KCNQ2):c.1088A>G (p.Tyr363Cys) rs794727935
NM_172107.4(KCNQ2):c.1099G>C (p.Val367Leu)
NM_172107.4(KCNQ2):c.1103C>G (p.Thr368Ser) rs900170305
NM_172107.4(KCNQ2):c.1111A>C (p.Met371Leu) rs1038643289
NM_172107.4(KCNQ2):c.1118+3A>G rs1057516112
NM_172107.4(KCNQ2):c.1133C>G (p.Thr378Ser) rs1260593444
NM_172107.4(KCNQ2):c.1136A>T (p.Tyr379Phe) rs752773828
NM_172107.4(KCNQ2):c.1142C>A (p.Ala381Asp) rs2145655065
NM_172107.4(KCNQ2):c.1149-3C>T rs1555860723
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.1159C>G (p.Pro387Ala) rs747158839
NM_172107.4(KCNQ2):c.1168C>G (p.Gln390Glu)
NM_172107.4(KCNQ2):c.1172T>C (p.Leu391Pro) rs796052646
NM_172107.4(KCNQ2):c.1198A>G (p.Lys400Glu) rs796052647
NM_172107.4(KCNQ2):c.1204G>A (p.Gly402Arg)
NM_172107.4(KCNQ2):c.1205G>A (p.Gly402Glu)
NM_172107.4(KCNQ2):c.1217+3C>T
NM_172107.4(KCNQ2):c.1241C>G (p.Ser414Cys) rs1555859111
NM_172107.4(KCNQ2):c.1242_1244del (p.Pro415del) rs2145615490
NM_172107.4(KCNQ2):c.1249A>G (p.Lys417Glu) rs2145588263
NM_172107.4(KCNQ2):c.1259C>G (p.Pro420Arg) rs139164500
NM_172107.4(KCNQ2):c.12G>C (p.Lys4Asn) rs776223064
NM_172107.4(KCNQ2):c.1301+8G>T rs532111320
NM_172107.4(KCNQ2):c.1301G>A (p.Ser434Asn) rs2145587725
NM_172107.4(KCNQ2):c.1321G>A (p.Asp441Asn)
NM_172107.4(KCNQ2):c.1356C>T (p.Ala452=)
NM_172107.4(KCNQ2):c.1464C>G (p.Asp488Glu)
NM_172107.4(KCNQ2):c.1490G>A (p.Arg497His) rs769414365
NM_172107.4(KCNQ2):c.1502C>T (p.Ala501Val) rs1465109197
NM_172107.4(KCNQ2):c.1503C>T (p.Ala501=) rs1801545
NM_172107.4(KCNQ2):c.1526-3C>A rs568408012
NM_172107.4(KCNQ2):c.1541G>A (p.Gly514Glu) rs1358495877
NM_172107.4(KCNQ2):c.1545G>T (p.Glu515Asp) rs117067974
NM_172107.4(KCNQ2):c.1559A>G (p.Asp520Gly)
NM_172107.4(KCNQ2):c.1622G>A (p.Arg541Lys)
NM_172107.4(KCNQ2):c.1625C>T (p.Ala542Val) rs796052648
NM_172107.4(KCNQ2):c.1637T>C (p.Met546Thr) rs886041860
NM_172107.4(KCNQ2):c.1688_1689delinsCA (p.Asp563Ala)
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.1757A>C (p.Gln586Pro) rs796052656
NM_172107.4(KCNQ2):c.1764-5G>A
NM_172107.4(KCNQ2):c.1769A>C (p.Asp590Ala) rs2145497758
NM_172107.4(KCNQ2):c.1777G>C (p.Val593Leu)
NM_172107.4(KCNQ2):c.1783C>T (p.Arg595Trp) rs1555851550
NM_172107.4(KCNQ2):c.17G>C (p.Arg6Pro) rs866843916
NM_172107.4(KCNQ2):c.1927A>C (p.Ile643Leu) rs1021032210
NM_172107.4(KCNQ2):c.1955C>G (p.Pro652Arg) rs770730662
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.2036A>G (p.His679Arg)
NM_172107.4(KCNQ2):c.2041G>A (p.Asp681Asn) rs1380546879
NM_172107.4(KCNQ2):c.2050G>A (p.Gly684Ser) rs577281854
NM_172107.4(KCNQ2):c.2079C>G (p.Ser693Arg) rs2079971597
NM_172107.4(KCNQ2):c.2090G>T (p.Gly697Val)
NM_172107.4(KCNQ2):c.2095A>G (p.Lys699Glu) rs1426709866
NM_172107.4(KCNQ2):c.2110C>T (p.Pro704Ser) rs1242898915
NM_172107.4(KCNQ2):c.2197G>A (p.Val733Met) rs756563523
NM_172107.4(KCNQ2):c.2200G>A (p.Gly734Arg)
NM_172107.4(KCNQ2):c.2219T>C (p.Val740Ala) rs1064797020
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.22G>T (p.Gly8Cys) rs769045070
NM_172107.4(KCNQ2):c.2321G>T (p.Cys774Phe) rs762596565
NM_172107.4(KCNQ2):c.2323A>G (p.Arg775Gly)
NM_172107.4(KCNQ2):c.2355C>A (p.Asp785Glu) rs781121496
NM_172107.4(KCNQ2):c.2369T>C (p.Ile790Thr) rs2145483858
NM_172107.4(KCNQ2):c.2377G>A (p.Val793Met) rs377227909
NM_172107.4(KCNQ2):c.2399G>T (p.Arg800Leu)
NM_172107.4(KCNQ2):c.2404T>C (p.Phe802Leu) rs796052659
NM_172107.4(KCNQ2):c.2419A>C (p.Ile807Leu) rs1202025157
NM_172107.4(KCNQ2):c.2446G>A (p.Ala816Thr) rs796052660
NM_172107.4(KCNQ2):c.2477C>G (p.Pro826Arg) rs2145482883
NM_172107.4(KCNQ2):c.2500A>G (p.Ile834Val) rs1555850289
NM_172107.4(KCNQ2):c.2506G>C (p.Glu836Gln)
NM_172107.4(KCNQ2):c.2553C>T (p.Pro851=) rs1568858578
NM_172107.4(KCNQ2):c.2566G>C (p.Ala856Pro)
NM_172107.4(KCNQ2):c.2584T>C (p.Phe862Leu) rs796052662
NM_172107.4(KCNQ2):c.2602G>C (p.Ala868Pro) rs774595024
NM_172107.4(KCNQ2):c.307G>A (p.Val103Ile) rs1555874588
NM_172107.4(KCNQ2):c.320T>C (p.Leu107Pro) rs1555874569
NM_172107.4(KCNQ2):c.359A>G (p.Lys120Arg)
NM_172107.4(KCNQ2):c.375C>T (p.Ala125=) rs1568944870
NM_172107.4(KCNQ2):c.400A>G (p.Ile134Val) rs2081381281
NM_172107.4(KCNQ2):c.409T>G (p.Phe137Val)
NM_172107.4(KCNQ2):c.457C>T (p.Arg153Trp)
NM_172107.4(KCNQ2):c.463C>T (p.Arg155Cys) rs886042698
NM_172107.4(KCNQ2):c.482T>C (p.Leu161Pro) rs2145778948
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.543G>A (p.Ala181=) rs1447421194
NM_172107.4(KCNQ2):c.553G>A (p.Ala185Thr) rs1600786349
NM_172107.4(KCNQ2):c.554C>T (p.Ala185Val) rs1131691529
NM_172107.4(KCNQ2):c.563A>C (p.Gln188Pro) rs1064797285
NM_172107.4(KCNQ2):c.629G>T (p.Arg210Leu)
NM_172107.4(KCNQ2):c.655A>G (p.Lys219Glu)
NM_172107.4(KCNQ2):c.701C>T (p.Thr234Ile) rs794727741
NM_172107.4(KCNQ2):c.703G>A (p.Ala235Thr) rs2081192615
NM_172107.4(KCNQ2):c.716G>T (p.Gly239Val) rs796052630
NM_172107.4(KCNQ2):c.761A>G (p.Glu254Gly) rs794727739
NM_172107.4(KCNQ2):c.815T>C (p.Leu272Pro) rs1057519227
NM_172107.4(KCNQ2):c.841G>A (p.Gly281Arg) rs794727813
NM_172107.4(KCNQ2):c.860C>T (p.Thr287Ile) rs727503973
NM_172107.4(KCNQ2):c.937G>T (p.Gly313Trp) rs796052639
NM_172107.4(KCNQ2):c.94C>G (p.Pro32Ala)
NM_172107.4(KCNQ2):c.995G>A (p.Arg332Lys) rs796052640

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