ClinVar Miner

List of variants in gene KCNQ2 reported as uncertain significance by GeneDx

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Gene type:
ClinVar version:
Total variants: 91
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HGVS dbSNP gnomAD frequency
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.2299C>T (p.Arg767Trp) rs755823361 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.1216A>G (p.Arg406Gly) rs1240338507 0.00001
NM_172107.4(KCNQ2):c.1218-18T>G rs908502131 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.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.1810C>T (p.Arg604Cys) rs780942181 0.00001
NM_172107.4(KCNQ2):c.1864C>T (p.Arg622Trp) rs772405187 0.00001
NM_172107.4(KCNQ2):c.2000C>T (p.Ala667Val) rs563291132 0.00001
NM_172107.4(KCNQ2):c.2117C>A (p.Ala706Asp) rs980128101 0.00001
NM_172107.4(KCNQ2):c.2234C>T (p.Pro745Leu) rs1057518569 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.2465C>T (p.Ala822Val) rs796052661 0.00001
NM_172107.4(KCNQ2):c.2555C>T (p.Pro852Leu) rs745508762 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.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.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.1159C>G (p.Pro387Ala) rs747158839
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.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.1301G>A (p.Ser434Asn) rs2145587725
NM_172107.4(KCNQ2):c.1356C>T (p.Ala452=)
NM_172107.4(KCNQ2):c.1490G>A (p.Arg497His) rs769414365
NM_172107.4(KCNQ2):c.1526-3C>A rs568408012
NM_172107.4(KCNQ2):c.1541G>A (p.Gly514Glu) rs1358495877
NM_172107.4(KCNQ2):c.1625C>T (p.Ala542Val) rs796052648
NM_172107.4(KCNQ2):c.1757A>C (p.Gln586Pro) rs796052656
NM_172107.4(KCNQ2):c.1769A>C (p.Asp590Ala) rs2145497758
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.1955C>G (p.Pro652Arg) rs770730662
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.2095A>G (p.Lys699Glu) rs1426709866
NM_172107.4(KCNQ2):c.2102_2104del (p.Phe701del) rs758334927
NM_172107.4(KCNQ2):c.2110C>T (p.Pro704Ser) rs1242898915
NM_172107.4(KCNQ2):c.2200G>A (p.Gly734Arg)
NM_172107.4(KCNQ2):c.2219T>C (p.Val740Ala) rs1064797020
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.2369T>C (p.Ile790Thr) rs2145483858
NM_172107.4(KCNQ2):c.2399G>T (p.Arg800Leu)
NM_172107.4(KCNQ2):c.2404T>C (p.Phe802Leu) rs796052659
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.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.359A>G (p.Lys120Arg)
NM_172107.4(KCNQ2):c.400A>G (p.Ile134Val) rs2081381281
NM_172107.4(KCNQ2):c.409T>G (p.Phe137Val)
NM_172107.4(KCNQ2):c.436T>A (p.Trp146Arg) rs1555873982
NM_172107.4(KCNQ2):c.457C>T (p.Arg153Trp)
NM_172107.4(KCNQ2):c.479G>C (p.Arg160Pro) rs1057518323
NM_172107.4(KCNQ2):c.482T>C (p.Leu161Pro) rs2145778948
NM_172107.4(KCNQ2):c.543G>A (p.Ala181=) rs1447421194
NM_172107.4(KCNQ2):c.554C>T (p.Ala185Val) rs1131691529
NM_172107.4(KCNQ2):c.716G>T (p.Gly239Val) rs796052630
NM_172107.4(KCNQ2):c.766G>C (p.Gly256Arg) rs1057518500
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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