ClinVar Miner

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

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Total variants: 59
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HGVS dbSNP
NM_172107.3(KCNQ2):c.1216A>G (p.Arg406Gly) rs1240338507
NM_172107.3(KCNQ2):c.1270C>T (p.Pro424Ser) rs748120886
NM_172107.3(KCNQ2):c.128C>T (p.Ala43Val) rs749554385
NM_172107.3(KCNQ2):c.1573T>A (p.Cys525Ser) rs371162714
NM_172107.3(KCNQ2):c.1955C>G (p.Pro652Arg) rs770730662
NM_172107.3(KCNQ2):c.2299C>T (p.Arg767Trp) rs755823361
NM_172107.3(KCNQ2):c.2377G>T (p.Val793Leu) rs377227909
NM_172107.3(KCNQ2):c.2465C>T (p.Ala822Val) rs796052661
NM_172107.4(KCNQ2):c.1136A>T (p.Tyr379Phe) rs752773828
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.1218-18T>G rs908502131
NM_172107.4(KCNQ2):c.1241C>G (p.Ser414Cys) rs1555859111
NM_172107.4(KCNQ2):c.1259C>G (p.Pro420Arg) rs139164500
NM_172107.4(KCNQ2):c.1295G>A (p.Arg432His) rs758074713
NM_172107.4(KCNQ2):c.12G>C (p.Lys4Asn) rs776223064
NM_172107.4(KCNQ2):c.1347C>T (p.Gly449=) rs771845478
NM_172107.4(KCNQ2):c.1405G>A (p.Ala469Thr) rs781778855
NM_172107.4(KCNQ2):c.1477C>T (p.Arg493Cys) rs759338332
NM_172107.4(KCNQ2):c.1505C>T (p.Ala502Val) rs375264483
NM_172107.4(KCNQ2):c.1540G>A (p.Gly514Arg) rs772669887
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.1627G>A (p.Val543Met) rs794727134
NM_172107.4(KCNQ2):c.1633G>A (p.Val545Ile) rs757608181
NM_172107.4(KCNQ2):c.1640G>A (p.Arg547Gln) rs760984494
NM_172107.4(KCNQ2):c.1757A>C (p.Gln586Pro) rs796052656
NM_172107.4(KCNQ2):c.1793C>T (p.Ala598Val) rs746079131
NM_172107.4(KCNQ2):c.17G>C (p.Arg6Pro) rs866843916
NM_172107.4(KCNQ2):c.1810C>T (p.Arg604Cys) rs780942181
NM_172107.4(KCNQ2):c.1955C>T (p.Pro652Leu) rs770730662
NM_172107.4(KCNQ2):c.2000C>T (p.Ala667Val) rs563291132
NM_172107.4(KCNQ2):c.2050G>A (p.Gly684Ser) rs577281854
NM_172107.4(KCNQ2):c.2102_2104del (p.Phe701del) rs758334927
NM_172107.4(KCNQ2):c.2209G>A (p.Gly737Ser) rs755013341
NM_172107.4(KCNQ2):c.2219T>C (p.Val740Ala) rs1064797020
NM_172107.4(KCNQ2):c.2234C>T (p.Pro745Leu) rs1057518569
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.2404T>C (p.Phe802Leu) rs796052659
NM_172107.4(KCNQ2):c.2446G>A (p.Ala816Thr) rs796052660
NM_172107.4(KCNQ2):c.2543C>T (p.Pro848Leu) rs377633507
NM_172107.4(KCNQ2):c.2555C>T (p.Pro852Leu) rs745508762
NM_172107.4(KCNQ2):c.2572G>A (p.Gly858Ser) rs756609768
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.290C>T (p.Ala97Val) rs1131691879
NM_172107.4(KCNQ2):c.307G>A (p.Val103Ile) rs1555874588
NM_172107.4(KCNQ2):c.322G>A (p.Val108Met) rs749164961
NM_172107.4(KCNQ2):c.415G>A (p.Val139Met) rs773083197
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.485A>G (p.Lys162Arg) rs754250122
NM_172107.4(KCNQ2):c.505T>C (p.Cys169Arg) rs1555873939
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.995G>A (p.Arg332Lys) rs796052640

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