ClinVar Miner

List of variants reported as likely pathogenic for Epileptic encephalopathy

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Total variants: 29
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HGVS dbSNP
NM_000053.3(ATP7B):c.3007G>A (p.Ala1003Thr) rs201497300
NM_000802.3(FOLR1):c.287G>A (p.Cys96Tyr) rs1057518816
NM_000814.5(GABRB3):c.372A>C (p.Leu124Phe) rs1057519550
NM_000814.5(GABRB3):c.761C>T (p.Ser254Phe) rs1057519549
NM_003165.3(STXBP1):c.1082C>T (p.Thr361Ile) rs1057518985
NM_004975.2(KCNB1):c.1001T>C (p.Leu334Pro) rs1555889108
NM_004975.2(KCNB1):c.1183G>A (p.Gly395Arg) rs959316981
NM_004975.4(KCNB1):c.1144G>A (p.Asp382Asn)
NM_004975.4(KCNB1):c.1180G>A (p.Gly394Arg)
NM_004975.4(KCNB1):c.128A>G (p.Glu43Gly)
NM_004975.4(KCNB1):c.968C>T (p.Thr323Ile)
NM_005660.2(SLC35A2):c.500_509delTGCAGTGGGC (p.Leu167Profs) rs1057519000
NM_006030.4(CACNA2D2):c.1778G>C (p.Arg593Pro)
NM_006772.2(SYNGAP1):c.583G>C (p.Ala195Pro) rs1057519545
NM_014191.3(SCN8A):c.2932A>G (p.Ser978Gly) rs1057519540
NM_014191.3(SCN8A):c.4423G>A (p.Gly1475Arg) rs796053216
NM_016373.3(WWOX):c.183C>A (p.Tyr61Ter) rs759766243
NM_016373.3(WWOX):c.918delG (p.Glu306Aspfs) rs1057518795
NM_017646.5(TRIT1):c.334del (p.Arg112Glufs) rs536000212
NM_021007.2(SCN2A):c.2687C>T (p.Ala896Val) rs1057519526
NM_021007.2(SCN2A):c.3947C>T (p.Ala1316Val) rs796053130
NM_021007.2(SCN2A):c.4031G>A (p.Cys1344Tyr) rs1057519527
NM_021007.2(SCN2A):c.4643T>C (p.Met1548Thr) rs1057519524
NM_021007.2(SCN2A):c.751G>A (p.Val251Ile) rs1057519528
NM_021072.3(HCN1):c.1172G>A (p.Gly391Asp) rs1057519547
NM_021072.3(HCN1):c.459G>C (p.Met153Ile) rs1057519548
NM_172107.3(KCNQ2):c.1742G>A (p.Arg581Gln) rs118192235
NM_172107.3(KCNQ2):c.802C>T (p.Leu268Phe) rs1057516094
NM_172107.3(KCNQ2):c.873G>T (p.Arg291Ser) rs1057519535

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