ClinVar Miner

List of variants reported as pathogenic for KCNQ2-related epileptic encephalopathy by GeneReviews

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 65
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HGVS dbSNP
NM_172107.4(KCNQ2):c.1010C>G (p.Ala337Gly) rs796052643
NM_172107.4(KCNQ2):c.1024-2A>G rs1057516104
NM_172107.4(KCNQ2):c.1058G>A (p.Arg353His) rs796052645
NM_172107.4(KCNQ2):c.1066C>G (p.Leu356Val) rs1057516109
NM_172107.4(KCNQ2):c.1203T>C (p.Ser401=) rs756007198
NM_172107.4(KCNQ2):c.1259C>T (p.Pro420Leu) rs139164500
NM_172107.4(KCNQ2):c.1382A>C (p.Gln461Pro) rs1057516116
NM_172107.4(KCNQ2):c.1501G>C (p.Ala501Pro) rs1057516118
NM_172107.4(KCNQ2):c.1621A>G (p.Arg541Gly) rs1555853971
NM_172107.4(KCNQ2):c.1636A>G (p.Met546Val) rs397515420
NM_172107.4(KCNQ2):c.1655A>C (p.Lys552Thr) rs1555853613
NM_172107.4(KCNQ2):c.1657C>T (p.Arg553Trp) rs759584387
NM_172107.4(KCNQ2):c.1658G>T (p.Arg553Leu) rs118192234
NM_172107.4(KCNQ2):c.1666A>G (p.Lys556Glu) rs1555853593
NM_172107.4(KCNQ2):c.1678C>T (p.Arg560Trp) rs773171451
NM_172107.4(KCNQ2):c.1682C>T (p.Pro561Leu) rs796052652
NM_172107.4(KCNQ2):c.1687G>A (p.Asp563Asn) rs796052653
NM_172107.4(KCNQ2):c.1689C>G (p.Asp563Glu) rs35450031
NM_172107.4(KCNQ2):c.1689C>T (p.Asp563=) rs35450031
NM_172107.4(KCNQ2):c.1734G>C (p.Met578Ile) rs796052655
NM_172107.4(KCNQ2):c.1734_1735delinsAA (p.Met578_Leu579delinsIleMet) rs796052665
NM_172107.4(KCNQ2):c.1741C>G (p.Arg581Gly) rs118192236
NM_172107.4(KCNQ2):c.2613G>T (p.Arg871Ser) rs587780369
NM_172107.4(KCNQ2):c.341C>T (p.Thr114Ile) rs1057516077
NM_172107.4(KCNQ2):c.431G>A (p.Arg144Gln) rs796052618
NM_172107.4(KCNQ2):c.471G>A (p.Trp157Ter) rs1057516079
NM_172107.4(KCNQ2):c.523G>C (p.Val175Leu) rs1057516082
NM_172107.4(KCNQ2):c.566G>T (p.Gly189Val) rs1057516083
NM_172107.4(KCNQ2):c.583T>C (p.Ser195Pro) rs796052620
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.608T>C (p.Leu203Pro) rs1057516086
NM_172107.4(KCNQ2):c.613A>G (p.Ile205Val) rs1057516087
NM_172107.4(KCNQ2):c.620G>A (p.Arg207Gln) rs118192200
NM_172107.4(KCNQ2):c.628C>T (p.Arg210Cys) rs796052626
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.638G>A (p.Arg213Gln)
NM_172107.4(KCNQ2):c.643G>A (p.Gly215Arg) rs1057516088
NM_172107.4(KCNQ2):c.700A>C (p.Thr234Pro) rs1057516091
NM_172107.4(KCNQ2):c.715G>C (p.Gly239Arg) rs1057516092
NM_172107.4(KCNQ2):c.757G>A (p.Ala253Thr) rs1057516093
NM_172107.4(KCNQ2):c.793G>A (p.Ala265Thr) rs794727740
NM_172107.4(KCNQ2):c.793G>C (p.Ala265Pro) 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.821C>T (p.Thr274Met) rs727503974
NM_172107.4(KCNQ2):c.827C>T (p.Thr276Ile) rs1057516095
NM_172107.4(KCNQ2):c.835G>T (p.Gly279Cys) rs1057516096
NM_172107.4(KCNQ2):c.841G>A (p.Gly281Arg) rs794727813
NM_172107.4(KCNQ2):c.841G>T (p.Gly281Trp) rs794727813
NM_172107.4(KCNQ2):c.854C>A (p.Pro285His) rs1057516097
NM_172107.4(KCNQ2):c.860C>A (p.Thr287Asn) rs727503973
NM_172107.4(KCNQ2):c.868G>A (p.Gly290Ser) rs1057516098
NM_172107.4(KCNQ2):c.881C>T (p.Ala294Val)
NM_172107.4(KCNQ2):c.886A>C (p.Thr296Pro) rs756921902
NM_172107.4(KCNQ2):c.901G>A (p.Gly301Ser) rs1057516099
NM_172107.4(KCNQ2):c.911T>C (p.Phe304Ser) rs1057516100
NM_172107.4(KCNQ2):c.915C>A (p.Phe305Leu) rs775918190
NM_172107.4(KCNQ2):c.917C>T (p.Ala306Val) rs864321707
NM_172107.4(KCNQ2):c.926C>T (p.Ala309Val)
NM_172107.4(KCNQ2):c.943G>C (p.Gly315Arg) rs864321709
NM_172107.4(KCNQ2):c.973A>C (p.Arg325=) rs1057516103
NM_172107.4(KCNQ2):c.973A>G (p.Arg325Gly) rs1057516103
NM_172107.4(KCNQ2):c.997C>T (p.Arg333Trp) rs118192215

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