ClinVar Miner

List of variants reported as pathogenic for Epileptic encephalopathy

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Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_003359.4(UGDH):c.950G>A (p.Arg317Gln) rs775162839 0.00006
NM_001199161.2(USP19):c.1572G>T (p.Glu524Asp) rs375659415 0.00003
NM_001382273.1(TNK2):c.1054C>T (p.Arg352Trp) rs1418694748 0.00001
GRCh37/hg19 15q11.2(chr15:22765628-23191062)
GRCh37/hg19 15q11.2-13.1(chr15:23208842-28525460)
NC_000009.12:g.127681712_127692172del
NM_000944.5(PPP3CA):c.844G>A (p.Glu282Lys) rs1553923787
NM_001032221.6(STXBP1):c.1099C>T (p.Arg367Ter) rs796053366
NM_001032221.6(STXBP1):c.1216C>T (p.Arg406Cys) rs796053367
NM_001032221.6(STXBP1):c.1249+1G>A rs1057519189
NM_001032221.6(STXBP1):c.1408G>T (p.Glu470Ter) rs1057519539
NM_001032221.6(STXBP1):c.1565G>A (p.Trp522Ter) rs1057519537
NM_001032221.6(STXBP1):c.57_59del (p.Ile19_Lys20delinsMet) rs1057519538
NM_001040142.2(SCN2A):c.5645G>A (p.Arg1882Gln) rs794727444
NM_001040142.2(SCN2A):c.788C>T (p.Ala263Val) rs387906686
NM_001110792.2(MECP2):c.63-2890_517del
NM_001130438.3(SPTAN1):c.6917GCATGC[3] (p.Arg2308_Met2309dup) rs796053335
NM_001165963.4(SCN1A):c.1248T>G (p.Asn416Lys)
NM_001165963.4(SCN1A):c.1848G>C (p.Glu616Asp) rs1057519529
NM_001165963.4(SCN1A):c.4820_4821del (p.Ile1606_Phe1607insTer) rs796053083
NM_001165963.4(SCN1A):c.5010_5013del (p.Phe1671fs) rs794726754
NM_001199161.2(USP19):c.1660G>T (p.Val554Leu) rs1057519452
NM_001323289.2(CDKL5):c.1247_1248del (p.Glu416fs) rs786204967
NM_001323289.2(CDKL5):c.1449_1452dup (p.Lys485fs) rs1057519542
NM_001323289.2(CDKL5):c.1921_1922del (p.Ser641fs) rs1569219844
NM_001323289.2(CDKL5):c.587C>T (p.Ser196Leu) rs267608501
NM_001330260.2(SCN8A):c.4948G>A (p.Ala1650Thr) rs879255709
NM_001330260.2(SCN8A):c.5614C>T (p.Arg1872Trp) rs796053228
NM_003931.3(WASF1):c.1558C>T (p.Gln520Ter) rs1562159088
NM_004975.4(KCNB1):c.1041C>G (p.Ser347Arg)
NM_004975.4(KCNB1):c.1045G>T (p.Val349Phe) rs1569017205
NM_004975.4(KCNB1):c.1105T>C (p.Trp369Arg) rs1569017174
NM_004975.4(KCNB1):c.1130C>A (p.Thr377Asn) rs1569017148
NM_004975.4(KCNB1):c.1132G>C (p.Val378Leu) rs1569017143
NM_004975.4(KCNB1):c.1139A>G (p.Tyr380Cys) rs1569017123
NM_004975.4(KCNB1):c.1201G>A (p.Gly401Arg) rs1569017045
NM_004975.4(KCNB1):c.1248C>A (p.Phe416Leu) rs1569017015
NM_004975.4(KCNB1):c.629C>G (p.Thr210Arg) rs1555889162
NM_004975.4(KCNB1):c.857del (p.Val286fs) rs1569017337
NM_004975.4(KCNB1):c.916C>T (p.Arg306Cys) rs1555889130
NM_004975.4(KCNB1):c.935G>A (p.Arg312His) rs1555889127
NM_004975.4(KCNB1):c.984C>G (p.Tyr328Ter) rs1179351306
NM_005458.8(GABBR2):c.1699G>A (p.Ala567Thr) rs922847767
NM_005458.8(GABBR2):c.1700C>T (p.Ala567Val) rs2131462561
NM_006306.4(SMC1A):c.2173C>T (p.Arg725Ter) rs2146599304
NM_016648.3:c.392_997del
NM_016648.4(LARP7):c.1669-1_1671del rs778909076
NM_020988.3(GNAO1):c.118G>C (p.Gly40Arg) rs886041715
NM_031844.3(HNRNPU):c.1089G>A (p.Trp363Ter) rs1135401732
NM_031844.3(HNRNPU):c.1714C>T (p.Arg572Ter) rs1135401733
NM_031844.3(HNRNPU):c.2270_2271del (p.Pro757fs) rs1135401734
NM_031844.3(HNRNPU):c.651_660del (p.Gly218fs) rs779453109
NM_130839.5(UBE3A):c.1472_1476del (p.Leu490_Tyr491insTer) rs863225068
NM_172107.4(KCNQ2):c.798T>A (p.Asp266Glu) rs1057519536
NM_172107.4(KCNQ2):c.845A>T (p.Asp282Val) rs1600755440
NM_172107.4(KCNQ2):c.881C>T (p.Ala294Val)
NM_172107.4(KCNQ2):c.901G>A (p.Gly301Ser) rs1057516099
Single allele

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