ClinVar Miner

List of variants reported as uncertain significance for childhood-onset epilepsy syndrome by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (91):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 221
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HGVS dbSNP gnomAD frequency
NM_005045.4(RELN):c.1001G>A (p.Arg334His) rs146922726 0.00091
NM_153026.3(PRICKLE1):c.2216C>T (p.Ser739Phe) rs138452760 0.00062
NM_001242896.3(DEPDC5):c.1525C>T (p.Arg509Cys) rs202083639 0.00049
NM_005045.4(RELN):c.139G>A (p.Glu47Lys) rs139648092 0.00047
NM_005045.4(RELN):c.6520G>A (p.Glu2174Lys) rs146877597 0.00043
NM_005045.4(RELN):c.5822T>C (p.Val1941Ala) rs149837553 0.00041
NM_005506.4(SCARB2):c.851A>C (p.Tyr284Ser) rs149997095 0.00041
NM_005670.4(EPM2A):c.235G>C (p.Gly79Arg) rs374826256 0.00041
NM_153026.3(PRICKLE1):c.2269G>A (p.Glu757Lys) rs145860632 0.00037
NM_005045.4(RELN):c.1483A>G (p.Ile495Val) rs150850005 0.00034
NM_005045.4(RELN):c.5095G>A (p.Glu1699Lys) rs147657490 0.00032
NM_004287.5(GOSR2):c.509A>G (p.Asn170Ser) rs150907052 0.00031
NM_005045.4(RELN):c.2446C>T (p.Leu816Phe) rs144653976 0.00031
NM_005045.4(RELN):c.5225G>A (p.Arg1742Gln) rs199553777 0.00031
NM_005045.4(RELN):c.5668A>G (p.Ile1890Val) rs147026512 0.00031
NM_005045.4(RELN):c.8843+3A>C rs200124755 0.00029
NM_003042.4(SLC6A1):c.1250G>A (p.Arg417His) rs191293931 0.00026
NM_005045.4(RELN):c.4337A>G (p.Asn1446Ser) rs115577014 0.00026
NM_005045.4(RELN):c.2954C>G (p.Ala985Gly) rs138598422 0.00025
NM_005045.4(RELN):c.5711C>T (p.Thr1904Met) rs114190729 0.00025
NM_005045.4(RELN):c.1108G>C (p.Gly370Arg) rs143050366 0.00024
NM_005045.4(RELN):c.59C>T (p.Thr20Met) rs145135688 0.00024
NM_020361.5(CPA6):c.1271C>T (p.Ala424Val) rs72654981 0.00024
NM_001242896.3(DEPDC5):c.968A>G (p.Asn323Ser) rs201776005 0.00023
NM_001199107.2(TBC1D24):c.878G>A (p.Arg293His) rs199700840 0.00022
NM_001199107.2(TBC1D24):c.217G>A (p.Val73Met) rs370078844 0.00021
NM_005045.4(RELN):c.1231C>A (p.Leu411Ile) rs144978163 0.00021
NM_005045.4(RELN):c.6726G>C (p.Arg2242Ser) rs201422815 0.00021
NM_005506.4(SCARB2):c.919G>A (p.Asp307Asn) rs142392473 0.00019
NM_018100.4(EFHC1):c.911A>G (p.Asn304Ser) rs142107827 0.00019
NM_005045.4(RELN):c.2125A>G (p.Met709Val) rs114577182 0.00018
NM_005045.4(RELN):c.6647G>A (p.Arg2216Gln) rs200010849 0.00017
NM_000744.7(CHRNA4):c.1448G>A (p.Arg483Gln) rs55855125 0.00016
NM_001242896.3(DEPDC5):c.3311C>T (p.Ser1104Leu) rs79027628 0.00016
NM_005045.4(RELN):c.2015C>T (p.Pro672Leu) rs201044262 0.00016
NM_005045.4(RELN):c.8212C>T (p.Arg2738Trp) rs202166176 0.00016
NM_005506.4(SCARB2):c.1328T>C (p.Met443Thr) rs141250135 0.00016
NM_005506.4(SCARB2):c.244C>T (p.Arg82Trp) rs142690468 0.00016
NM_005506.4(SCARB2):c.277G>A (p.Glu93Lys) rs145870223 0.00016
NM_006922.4(SCN3A):c.2003G>A (p.Gly668Glu) rs199975643 0.00016
NM_018941.4(CLN8):c.806A>T (p.Glu269Val) rs139003032 0.00016
NM_005670.4(EPM2A):c.488A>G (p.Asn163Ser) rs141919651 0.00015
NM_153026.3(PRICKLE1):c.1222T>C (p.Trp408Arg) rs376384105 0.00015
NM_005045.4(RELN):c.7634C>T (p.Ala2545Val) rs116634494 0.00014
NM_005045.4(RELN):c.8795C>A (p.Ser2932Tyr) rs139225791 0.00014
NM_005045.4(RELN):c.9329G>A (p.Arg3110Gln) rs368572382 0.00014
NM_005506.4(SCARB2):c.1262C>T (p.Thr421Met) rs149474488 0.00012
NM_005506.4(SCARB2):c.38C>T (p.Ser13Phe) rs144791636 0.00012
NM_005045.4(RELN):c.10322G>A (p.Arg3441Gln) rs116463039 0.00011
NM_005045.4(RELN):c.1336G>C (p.Glu446Gln) rs56146903 0.00011
NM_005045.4(RELN):c.3667A>G (p.Lys1223Glu) rs200269227 0.00011
NM_005045.4(RELN):c.6193G>A (p.Val2065Ile) rs201627577 0.00011
NM_005045.4(RELN):c.6925G>A (p.Asp2309Asn) rs138978280 0.00011
NM_005097.4(LGI1):c.191C>T (p.Thr64Ile) rs373616721 0.00011
NM_005506.4(SCARB2):c.1210A>G (p.Met404Val) rs147142116 0.00011
NM_005506.4(SCARB2):c.194A>G (p.Tyr65Cys) rs138955932 0.00011
NM_000744.7(CHRNA4):c.358C>T (p.Arg120Trp) rs200010568 0.00010
NM_005506.4(SCARB2):c.1136C>T (p.Ala379Val) rs144147706 0.00010
NM_018941.4(CLN8):c.53A>T (p.Tyr18Phe) rs142104002 0.00010
NM_018941.4(CLN8):c.59C>G (p.Ser20Cys) rs749651452 0.00010
NM_153033.5(KCTD7):c.193C>T (p.Arg65Cys) rs200321023 0.00010
NM_005045.4(RELN):c.4495G>C (p.Asp1499His) rs200428576 0.00009
NM_005045.4(RELN):c.8005G>A (p.Val2669Ile) rs375985673 0.00009
NM_005506.4(SCARB2):c.24G>A (p.Thr8=) rs772501510 0.00009
NM_014467.3(SRPX2):c.981C>G (p.Asn327Lys) rs370033099 0.00009
NM_018100.4(EFHC1):c.1385T>C (p.Ile462Thr) rs200116252 0.00009
NM_018100.4(EFHC1):c.1768G>C (p.Ala590Pro) rs749376467 0.00009
NM_153026.3(PRICKLE1):c.824C>T (p.Thr275Met) rs559947948 0.00009
NM_001242896.3(DEPDC5):c.791G>A (p.Arg264Lys) rs750467533 0.00008
NM_005045.4(RELN):c.697G>A (p.Ala233Thr) rs181961566 0.00008
NM_005506.4(SCARB2):c.1010T>C (p.Met337Thr) rs147324129 0.00008
NM_018100.4(EFHC1):c.1892A>G (p.Tyr631Cys) rs574948354 0.00008
NM_001199107.2(TBC1D24):c.439G>A (p.Asp147Asn) rs267607103 0.00007
NM_001242896.3(DEPDC5):c.2576C>T (p.Thr859Met) rs200744555 0.00007
NM_005045.4(RELN):c.10310T>C (p.Met3437Thr) rs377638585 0.00007
NM_000744.7(CHRNA4):c.1430C>T (p.Ala477Val) rs200243948 0.00006
NM_001161352.2(KCNMA1):c.182T>C (p.Val61Ala) rs200420124 0.00006
NM_003042.4(SLC6A1):c.1436G>A (p.Arg479Gln) rs771439149 0.00006
NM_005045.4(RELN):c.10357C>T (p.Arg3453Ter) rs139326865 0.00006
NM_005045.4(RELN):c.1669T>G (p.Phe557Val) rs757726526 0.00006
NM_005045.4(RELN):c.5246A>G (p.Asn1749Ser) rs755596079 0.00006
NM_005097.4(LGI1):c.205G>A (p.Val69Ile) rs147469708 0.00006
NM_006922.4(SCN3A):c.5200G>C (p.Gly1734Arg) rs577933870 0.00006
NM_018100.4(EFHC1):c.1A>G (p.Met1Val) rs201520866 0.00006
NM_020822.3(KCNT1):c.3575C>T (p.Pro1192Leu) rs147654995 0.00006
NM_001134407.3(GRIN2A):c.3505C>T (p.Arg1169Trp) rs369878342 0.00005
NM_001242896.3(DEPDC5):c.3217A>C (p.Ser1073Arg) rs754608531 0.00005
NM_005045.4(RELN):c.7423G>A (p.Val2475Ile) rs764015748 0.00005
NM_005097.4(LGI1):c.310G>A (p.Asp104Asn) rs145675377 0.00005
NM_005506.4(SCARB2):c.1325T>C (p.Ile442Thr) rs1064794450 0.00005
NM_006922.4(SCN3A):c.4186G>A (p.Val1396Met) rs200031995 0.00005
NM_000742.4(CHRNA2):c.1073G>T (p.Ser358Ile) rs74341575 0.00004
NM_000742.4(CHRNA2):c.869C>T (p.Pro290Leu) rs767619637 0.00004
NM_001199107.2(TBC1D24):c.808C>T (p.Arg270Cys) rs375860324 0.00004
NM_001242896.3(DEPDC5):c.1354G>A (p.Ala452Thr) rs768264302 0.00004
NM_001242896.3(DEPDC5):c.2045T>A (p.Phe682Tyr) rs373078069 0.00004
NM_001242896.3(DEPDC5):c.2377A>G (p.Met793Val) rs370318709 0.00004
NM_001271.4(CHD2):c.4061G>A (p.Arg1354Lys) rs370160870 0.00004
NM_001271.4(CHD2):c.5069G>A (p.Arg1690Gln) rs564787975 0.00004
NM_005045.4(RELN):c.1649G>T (p.Arg550Met) rs773589573 0.00004
NM_005045.4(RELN):c.1817C>T (p.Thr606Ile) rs540111252 0.00004
NM_005045.4(RELN):c.7757C>T (p.Thr2586Ile) rs202172902 0.00004
NM_005506.4(SCARB2):c.914C>T (p.Thr305Met) rs148588727 0.00004
NM_006922.4(SCN3A):c.2021G>A (p.Gly674Asp) rs751294193 0.00004
NM_018100.4(EFHC1):c.151C>T (p.Arg51Trp) rs374661645 0.00004
NM_018941.4(CLN8):c.556G>A (p.Glu186Lys) rs756636772 0.00004
NM_000742.4(CHRNA2):c.1275T>A (p.Cys425Ter) rs530383631 0.00003
NM_000814.6(GABRB3):c.292G>A (p.Ala98Thr) rs756369937 0.00003
NM_000814.6(GABRB3):c.557C>T (p.Thr186Met) rs769801846 0.00003
NM_001199107.2(TBC1D24):c.1633A>G (p.Ile545Val) rs773874436 0.00003
NM_001242896.3(DEPDC5):c.4580G>A (p.Arg1527Gln) rs200552561 0.00003
NM_001242896.3(DEPDC5):c.500C>T (p.Thr167Met) rs575683658 0.00003
NM_001271.4(CHD2):c.881G>T (p.Gly294Val) rs771390521 0.00003
NM_005045.4(RELN):c.2252A>C (p.Lys751Thr) rs116504075 0.00003
NM_005045.4(RELN):c.3197C>T (p.Pro1066Leu) rs116225248 0.00003
NM_005045.4(RELN):c.8624C>T (p.Pro2875Leu) rs761738403 0.00003
NM_005506.4(SCARB2):c.117G>A (p.Lys39=) rs1006710581 0.00003
NM_005506.4(SCARB2):c.1249A>G (p.Ile417Val) rs778593496 0.00003
NM_005506.4(SCARB2):c.280C>T (p.Leu94Phe) rs752416481 0.00003
NM_005506.4(SCARB2):c.523G>A (p.Glu175Lys) rs751711805 0.00003
NM_014467.3(SRPX2):c.305C>T (p.Ser102Leu) rs1237471672 0.00003
NM_018100.4(EFHC1):c.880C>T (p.Arg294Cys) rs201543041 0.00003
NM_018941.4(CLN8):c.697C>G (p.Leu233Val) rs1380901432 0.00003
NM_020361.5(CPA6):c.107G>T (p.Arg36Leu) rs183899632 0.00003
NM_020361.5(CPA6):c.902C>T (p.Pro301Leu) rs753468111 0.00003
NM_000742.4(CHRNA2):c.294+5G>A rs774398407 0.00002
NM_000744.7(CHRNA4):c.13G>A (p.Gly5Ser) rs1043176387 0.00002
NM_000748.3(CHRNB2):c.640G>A (p.Glu214Lys) rs780175030 0.00002
NM_001134407.3(GRIN2A):c.2650G>A (p.Asp884Asn) rs777684328 0.00002
NM_001134407.3(GRIN2A):c.3338C>T (p.Pro1113Leu) rs201698049 0.00002
NM_001161352.2(KCNMA1):c.2089C>T (p.Arg697Trp) rs202188493 0.00002
NM_001199107.2(TBC1D24):c.1393G>A (p.Ala465Thr) rs745535369 0.00002
NM_001242896.3(DEPDC5):c.3836A>G (p.His1279Arg) rs201765981 0.00002
NM_005045.4(RELN):c.10025C>T (p.Thr3342Met) rs201703640 0.00002
NM_005045.4(RELN):c.2260C>T (p.Arg754Trp) rs759711654 0.00002
NM_005045.4(RELN):c.7916G>A (p.Arg2639His) rs369735904 0.00002
NM_005506.4(SCARB2):c.746A>G (p.Asn249Ser) rs199837910 0.00002
NM_005506.4(SCARB2):c.816C>G (p.Asp272Glu) rs370666555 0.00002
NM_006922.4(SCN3A):c.3253A>G (p.Ile1085Val) rs144957412 0.00002
NM_020361.5(CPA6):c.382C>T (p.Arg128Ter) rs768188762 0.00002
NM_020361.5(CPA6):c.534+4A>G rs766728291 0.00002
NM_020361.5(CPA6):c.725G>T (p.Gly242Val) rs372728943 0.00002
NM_020822.3(KCNT1):c.2044C>T (p.Arg682Trp) rs750994724 0.00002
NM_020822.3(KCNT1):c.889G>A (p.Glu297Lys) rs146070496 0.00002
NM_153026.3(PRICKLE1):c.434C>T (p.Ala145Val) rs765119777 0.00002
NM_198904.4(GABRG2):c.353C>T (p.Ala118Val) rs772800839 0.00002
NM_000742.4(CHRNA2):c.1516T>A (p.Trp506Arg) rs1012797739 0.00001
NM_000742.4(CHRNA2):c.810C>G (p.Ile270Met) rs892421066 0.00001
NM_000742.4(CHRNA2):c.91C>T (p.Arg31Cys) rs764887214 0.00001
NM_000744.7(CHRNA4):c.687C>G (p.Ile229Met) rs200063611 0.00001
NM_000748.3(CHRNB2):c.1338+3G>T rs886348487 0.00001
NM_000748.3(CHRNB2):c.140G>A (p.Arg47His) rs769249583 0.00001
NM_001112741.2(KCNC1):c.1549G>A (p.Glu517Lys) rs1243389624 0.00001
NM_001122752.2(SERPINI1):c.302A>T (p.Glu101Val) rs749315755 0.00001
NM_001134407.3(GRIN2A):c.1030G>C (p.Asp344His) rs777505684 0.00001
NM_001134407.3(GRIN2A):c.1279G>C (p.Glu427Gln) rs560839364 0.00001
NM_001242896.3(DEPDC5):c.2507A>G (p.Tyr836Cys) rs773004067 0.00001
NM_001242896.3(DEPDC5):c.373T>C (p.Cys125Arg) rs778986487 0.00001
NM_001242896.3(DEPDC5):c.722C>T (p.Ser241Leu) rs1397187284 0.00001
NM_001271.4(CHD2):c.4481A>G (p.Asn1494Ser) rs913833972 0.00001
NM_001271.4(CHD2):c.5242C>T (p.Arg1748Cys) rs767099765 0.00001
NM_001271.4(CHD2):c.826G>A (p.Ala276Thr) rs375521197 0.00001
NM_004408.4(DNM1):c.650G>A (p.Arg217His) rs753953686 0.00001
NM_005045.4(RELN):c.1480A>G (p.Ile494Val) rs372015884 0.00001
NM_005045.4(RELN):c.1913C>T (p.Pro638Leu) rs114993407 0.00001
NM_005045.4(RELN):c.4484C>T (p.Thr1495Met) rs369404310 0.00001
NM_005045.4(RELN):c.4907A>G (p.Asp1636Gly) rs587780439 0.00001
NM_005045.4(RELN):c.491G>A (p.Arg164Gln) rs1193525098 0.00001
NM_005045.4(RELN):c.5377T>G (p.Tyr1793Asp) rs760957004 0.00001
NM_005506.4(SCARB2):c.1039G>A (p.Glu347Lys) rs559054010 0.00001
NM_005506.4(SCARB2):c.1331C>T (p.Ala444Val) rs773957659 0.00001
NM_005506.4(SCARB2):c.1369G>C (p.Ala457Pro) rs757381866 0.00001
NM_005506.4(SCARB2):c.1416A>C (p.Arg472Ser) rs1191433680 0.00001
NM_005506.4(SCARB2):c.170C>T (p.Pro57Leu) rs1560716152 0.00001
NM_005506.4(SCARB2):c.241C>T (p.Pro81Ser) rs878853018 0.00001
NM_005506.4(SCARB2):c.593A>G (p.Tyr198Cys) rs1018285383 0.00001
NM_005506.4(SCARB2):c.766T>C (p.Phe256Leu) rs1241257632 0.00001
NM_005506.4(SCARB2):c.866G>A (p.Gly289Glu) rs777478545 0.00001
NM_014467.3(SRPX2):c.174G>C (p.Trp58Cys) rs1354537844 0.00001
NM_018100.4(EFHC1):c.124C>T (p.Arg42Cys) rs748229072 0.00001
NM_018100.4(EFHC1):c.1409C>G (p.Thr470Ser) rs201129694 0.00001
NM_018100.4(EFHC1):c.1443C>G (p.Asn481Lys) rs186911667 0.00001
NM_018941.4(CLN8):c.17A>G (p.Asp6Gly) rs536738656 0.00001
NM_020822.3(KCNT1):c.1664G>A (p.Arg555His) rs764477306 0.00001
NM_020822.3(KCNT1):c.1975C>T (p.Arg659Cys) rs753599140 0.00001
NM_020822.3(KCNT1):c.2062G>A (p.Gly688Ser) rs570983410 0.00001
NM_020822.3(KCNT1):c.3125G>A (p.Arg1042Gln) rs763578184 0.00001
NM_020822.3(KCNT1):c.3691G>A (p.Asp1231Asn) rs146193090 0.00001
NM_000742.4(CHRNA2):c.1393del (p.His465fs) rs1394301488
NM_000744.7(CHRNA4):c.1667C>G (p.Pro556Arg) rs77345643
NM_000744.7(CHRNA4):c.1792A>G (p.Ile598Val) rs1019612389
NM_000744.7(CHRNA4):c.448C>A (p.Gln150Lys) rs200747769
NM_001134407.3(GRIN2A):c.2378C>T (p.Thr793Ile) rs893189529
NM_001134407.3(GRIN2A):c.2415C>T (p.Asn805=) rs777235967
NM_001134407.3(GRIN2A):c.2801T>C (p.Met934Thr) rs540019898
NM_001134407.3(GRIN2A):c.2933A>T (p.Tyr978Phe) rs948782419
NM_001134407.3(GRIN2A):c.3026G>A (p.Arg1009Lys) rs1900786503
NM_001134407.3(GRIN2A):c.3544G>T (p.Asp1182Tyr) rs375160358
NM_001161352.2(KCNMA1):c.31AGC[3] (p.Ser12dup) rs757636988
NM_001161352.2(KCNMA1):c.31_34delinsG (p.Ser11_Ser12delinsGly) rs1555528807
NM_001161352.2(KCNMA1):c.460G>T (p.Ala154Ser) rs142858967
NM_001199107.2(TBC1D24):c.605C>T (p.Ser202Leu) rs796053400
NM_001242896.3(DEPDC5):c.3216G>C (p.Glu1072Asp) rs753608617
NM_001242896.3(DEPDC5):c.3218G>A (p.Ser1073Asn) rs375884815
NM_001242896.3(DEPDC5):c.4156A>C (p.Ile1386Leu) rs1555930038
NM_001271.4(CHD2):c.2973G>A (p.Gln991=) rs903186613
NM_003042.4(SLC6A1):c.152T>A (p.Phe51Tyr) rs1553687887
NM_005045.4(RELN):c.5468C>A (p.Ala1823Glu) rs1244373166
NM_005045.4(RELN):c.6976G>A (p.Asp2326Asn) rs768054802
NM_005045.4(RELN):c.8213G>A (p.Arg2738Gln) rs141115137
NM_005506.4(SCARB2):c.1412A>T (p.Glu471Val) rs755903502
NM_005506.4(SCARB2):c.382C>T (p.Pro128Ser) rs143558324
NM_005506.4(SCARB2):c.65C>T (p.Thr22Met) rs1733110733
NM_005670.4(EPM2A):c.136G>A (p.Ala46Thr) rs374338349
NM_006922.4(SCN3A):c.137A>C (p.Glu46Ala) rs1159568725
NM_006922.4(SCN3A):c.603-3_603-2del rs770371377
NM_018100.4(EFHC1):c.682_692del (p.Asp228fs) rs775980459
NM_018941.4(CLN8):c.374A>T (p.Asn125Ile) rs142269885
NM_018941.4(CLN8):c.46C>A (p.Leu16Met) rs386834129
NM_018941.4(CLN8):c.94T>G (p.Phe32Val) rs758068226
NM_198904.4(GABRG2):c.1112A>C (p.Lys371Thr) rs796052512

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