ClinVar Miner

List of variants in gene KCNQ2 reported as uncertain significance for developmental and epileptic encephalopathy, 7

Included ClinVar conditions (2):
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Gene type:
ClinVar version:
Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_172107.4(KCNQ2):c.2252C>T (p.Ser751Leu) rs774002673 0.00011
NM_172107.4(KCNQ2):c.1347C>T (p.Gly449=) rs771845478 0.00004
NM_172107.4(KCNQ2):c.1888-3C>T rs772971971 0.00004
NM_172107.4(KCNQ2):c.2173C>T (p.Arg725Cys) rs768284828 0.00004
NM_172107.4(KCNQ2):c.691-5C>T rs886056921 0.00003
NM_172107.4(KCNQ2):c.1505C>T (p.Ala502Val) rs375264483 0.00002
NM_172107.4(KCNQ2):c.2312C>T (p.Thr771Ile) rs759258191 0.00002
NM_172107.4(KCNQ2):c.1024-5C>T rs762121418 0.00001
NM_172107.4(KCNQ2):c.104C>G (p.Thr35Ser) rs984632499 0.00001
NM_172107.4(KCNQ2):c.1111A>G (p.Met371Val) rs1038643289 0.00001
NM_172107.4(KCNQ2):c.1229C>T (p.Pro410Leu) rs752579642 0.00001
NM_172107.4(KCNQ2):c.1291G>A (p.Gly431Arg) rs746853951 0.00001
NM_172107.4(KCNQ2):c.1382A>C (p.Gln461Pro) rs1057516116 0.00001
NM_172107.4(KCNQ2):c.1588G>A (p.Glu530Lys) rs897976020 0.00001
NM_172107.4(KCNQ2):c.1627G>A (p.Val543Met) rs794727134 0.00001
NM_172107.4(KCNQ2):c.2108C>T (p.Ala703Val) rs779430808 0.00001
NM_172107.4(KCNQ2):c.2278C>T (p.Arg760Cys) rs1449467609 0.00001
NM_172107.4(KCNQ2):c.2300G>A (p.Arg767Gln) rs752551225 0.00001
NM_172107.4(KCNQ2):c.2555C>T (p.Pro852Leu) rs745508762 0.00001
NM_172107.4(KCNQ2):c.7C>G (p.Gln3Glu) rs868642147 0.00001
NM_172107.4(KCNQ2):c.1118+18C>T rs2080900462
NM_172107.4(KCNQ2):c.1118G>T (p.Ser373Ile) rs2145678974
NM_172107.4(KCNQ2):c.1280G>A (p.Gly427Glu) rs1601590796
NM_172107.4(KCNQ2):c.1302-1G>C rs118192225
NM_172107.4(KCNQ2):c.1559A>G (p.Asp520Gly)
NM_172107.4(KCNQ2):c.1632-5T>A
NM_172107.4(KCNQ2):c.173GCGCGGGCG[3] (p.Gly61_Gly63dup) rs1362316126
NM_172107.4(KCNQ2):c.1763+1576T>G rs62208003
NM_172107.4(KCNQ2):c.1787G>C (p.Gly596Ala) rs2145497630
NM_172107.4(KCNQ2):c.1828G>A (p.Glu610Lys) rs1350422852
NM_172107.4(KCNQ2):c.1955C>T (p.Pro652Leu) rs770730662
NM_172107.4(KCNQ2):c.1997C>T (p.Pro666Leu) rs762130930
NM_172107.4(KCNQ2):c.199C>T (p.Pro67Ser) rs972841085
NM_172107.4(KCNQ2):c.2030G>C (p.Arg677Pro) rs1326189284
NM_172107.4(KCNQ2):c.2102_2104del (p.Phe701del) rs758334927
NM_172107.4(KCNQ2):c.2245G>A (p.Glu749Lys) rs796052658
NM_172107.4(KCNQ2):c.2272_2286del (p.Gly758_Ser762del) rs2079961255
NM_172107.4(KCNQ2):c.2474C>G (p.Ala825Gly) rs1568858969
NM_172107.4(KCNQ2):c.2599T>C (p.Trp867Arg)
NM_172107.4(KCNQ2):c.329_334del (p.Ser110_Val111del)
NM_172107.4(KCNQ2):c.403GTG[1] (p.Val136del)
NM_172107.4(KCNQ2):c.430C>T (p.Arg144Trp)
NM_172107.4(KCNQ2):c.51G>T (p.Glu17Asp) rs2082239531
NM_172107.4(KCNQ2):c.569A>T (p.Asn190Ile) rs2145775795
NM_172107.4(KCNQ2):c.64G>A (p.Val22Met) rs2082239153
NM_172107.4(KCNQ2):c.691G>A (p.Glu231Lys)
NM_172107.4(KCNQ2):c.773A>T (p.Asn258Ile)
NM_172107.4(KCNQ2):c.856C>G (p.Gln286Glu)
NM_172107.4(KCNQ2):c.91G>T (p.Ala31Ser)
NM_172107.4(KCNQ2):c.946T>C (p.Phe316Leu) rs2145712640

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