ClinVar Miner

List of variants studied for Developmental and epileptic encephalopathy, 1

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Total variants: 94
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HGVS dbSNP gnomAD frequency
NM_001199107.2(TBC1D24):c.641G>A (p.Arg214His) rs200324356 0.00068
NM_015192.4(PLCB1):c.3337-69G>A rs45541432 0.00021
NM_203446.3(SYNJ1):c.1906G>A (p.Val636Ile) rs373820739 0.00007
NM_203446.3(SYNJ1):c.2250T>A (p.Asn750Lys) rs570501803 0.00005
NM_016373.4(WWOX):c.173-6T>G rs200812468 0.00004
NM_015080.4(NRXN2):c.3176G>A (p.Arg1059Gln) rs777033569 0.00002
NM_001182.5(ALDH7A1):c.1111C>T (p.Pro371Ser) rs1045606047 0.00001
NM_006279.5(ST3GAL3):c.631G>A (p.Glu211Lys) rs1448699021 0.00001
NM_018359.5(UFSP2):c.344T>A (p.Val115Glu) rs142500730 0.00001
NM_139058.3(ARX):c.1444G>A (p.Gly482Ser) rs1468724042 0.00001
NM_203446.3(SYNJ1):c.3601C>T (p.Arg1201Cys) rs114994257 0.00001
NM_000814.6(GABRB3):c.841A>G (p.Thr281Ala) rs1555401442
NM_001099922.3(ALG13):c.880C>T (p.Pro294Ser) rs753556936
NM_001100913.3(PACS2):c.1706G>A (p.Arg569Gln)
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys) rs1555408401
NM_001127222.2(CACNA1A):c.3310_3315dup (p.Gly1104_Pro1105dup) rs776584949
NM_001127222.2(CACNA1A):c.6630CCA[5] (p.His2216_His2219del) rs759331923
NM_001127222.2(CACNA1A):c.7124C>A (p.Ala2375Asp) rs2054617959
NM_001165963.4(SCN1A):c.126_128delinsCC (p.Lys42fs) rs2105983330
NM_001165963.4(SCN1A):c.2020G>C (p.Asp674His) rs1574214734
NM_001165963.4(SCN1A):c.2134C>T (p.Arg712Ter) rs794726730
NM_001182.5(ALDH7A1):c.1480G>C (p.Gly494Arg)
NM_001184880.2(PCDH19):c.1151T>G (p.Val384Gly)
NM_001271.4(CHD2):c.3702A>C (p.Lys1234Asn)
NM_001323289.2(CDKL5):c.415G>A (p.Glu139Lys)
NM_001330260.2(SCN8A):c.4399T>G (p.Phe1467Val)
NM_001353921.2(ARHGEF9):c.1107_1108insT (p.Lys370Ter) rs2147218877
NM_001353921.2(ARHGEF9):c.1115G>A (p.Arg372His) rs2048831313
NM_001365999.1(SZT2):c.4343G>A (p.Arg1448His) rs775153972
NM_003705.5(SLC25A12):c.1490T>A (p.Ile497Asn) rs2105837590
NM_004408.4(DNM1):c.1335+1638G>A rs747079285
NM_004726.3(REPS2):c.1822C>T (p.Gln608Ter)
NM_004974.4(KCNA2):c.890G>A (p.Arg297Gln) rs786205232
NM_004974.4(KCNA2):c.906T>G (p.Phe302Leu) rs764822052
NM_005660.3(SLC35A2):c.1066_1067insGCCTCT (p.Ala355_Ser356insCysLeu) rs1557042706
NM_006516.4(SLC2A1):c.197_198delinsAA (p.Ser66Ter)
NM_007327.4(GRIN1):c.1927A>G (p.Ile643Val) rs1554770243
NM_016373.4(WWOX):c.*187_*190dup rs1597489135
NM_016373.4(WWOX):c.107+1G>A rs1300924648
NM_016373.4(WWOX):c.136C>T (p.His46Tyr) rs1597207871
NM_016373.4(WWOX):c.535G>A (p.Ala179Thr) rs11545029
NM_016373.4(WWOX):c.705dup (p.His236fs) rs1597216056
NM_020988.3(GNAO1):c.119G>T (p.Gly40Val) rs886041766
NM_022080.3(NAPB):c.421-1G>A rs1983849974
NM_031844.3(HNRNPU):c.353C>A (p.Ser118Ter) rs1057524584
NM_139058.3(ARX):c.1002_1007delinsTGTACCA (p.Phe335fs) rs869312662
NM_139058.3(ARX):c.1039T>G (p.Phe347Val) rs1556054888
NM_139058.3(ARX):c.1058C>T (p.Pro353Leu) rs104894743
NM_139058.3(ARX):c.1073G>A (p.Arg358Lys) rs2147323521
NM_139058.3(ARX):c.1105G>A (p.Glu369Lys) rs104894746
NM_139058.3(ARX):c.1128C>G (p.Phe376Leu) rs2048683301
NM_139058.3(ARX):c.121A>C (p.Met41Leu) rs2147325425
NM_139058.3(ARX):c.1253C>G (p.Pro418Arg) rs2048682725
NM_139058.3(ARX):c.1369_1391del (p.Gly457fs) rs1601946502
NM_139058.3(ARX):c.1414_1428del (p.Arg472_Phe476del) rs1601946492
NM_139058.3(ARX):c.1430del (p.Ile477fs)
NM_139058.3(ARX):c.1449-816_*460del
NM_139058.3(ARX):c.1465del (p.Ala489fs) rs587783191
NM_139058.3(ARX):c.1472del (p.Leu491fs) rs2147318790
NM_139058.3(ARX):c.1489G>C (p.Ala497Pro) rs1556046847
NM_139058.3(ARX):c.1522G>A (p.Val508Met) rs2048670414
NM_139058.3(ARX):c.1531dup (p.Ala511fs)
NM_139058.3(ARX):c.1546G>T (p.Ala516Ser) rs747042039
NM_139058.3(ARX):c.1589C>G (p.Ser530Cys) rs2048669628
NM_139058.3(ARX):c.1604T>A (p.Leu535Gln) rs387906715
NM_139058.3(ARX):c.1607G>C (p.Arg536Thr) rs2048669411
NM_139058.3(ARX):c.1610T>C (p.Leu537Pro)
NM_139058.3(ARX):c.1684T>C (p.Cys562Arg) rs2048668859
NM_139058.3(ARX):c.1A>T (p.Met1Leu)
NM_139058.3(ARX):c.303_323dup (p.Ala109_Ala115dup) rs2147324381
NM_139058.3(ARX):c.306GGC[11] (p.Ala115dup) rs387906492
NM_139058.3(ARX):c.306GGC[17] (p.Ala109_Ala115dup) rs387906492
NM_139058.3(ARX):c.309_341dup (p.Ala105_Ala115dup) rs1365611175
NM_139058.3(ARX):c.370G>T (p.Glu124Ter) rs2147324296
NM_139058.3(ARX):c.428_451dup (p.Gly143_Ala150dup) rs387906493
NM_139058.3(ARX):c.433G>T (p.Ala145Ser) rs1438576250
NM_139058.3(ARX):c.435_461dup (p.Ala147_Ala155dup) rs1556056125
NM_139058.3(ARX):c.451_464del (p.Ala151fs)
NM_139058.3(ARX):c.451_465del (p.Ala151_Ala155del) rs757588621
NM_139058.3(ARX):c.457del (p.Ala153fs)
NM_139058.3(ARX):c.611G>C (p.Arg204Pro)
NM_139058.3(ARX):c.771C>T (p.Arg257=) rs1601948418
NM_139058.3(ARX):c.80A>C (p.Tyr27Ser) rs2048724116
NM_139058.3(ARX):c.81C>G (p.Tyr27Ter) rs398122854
NM_139058.3(ARX):c.84C>A (p.Cys28Ter) rs932485786
NM_139058.3(ARX):c.946G>A (p.Gly316Ser) rs2048708756
NM_139058.3(ARX):c.989G>A (p.Arg330His) rs886039308
NM_152221.3(CSNK1E):c.885+1G>A rs1569077009
NM_172107.4(KCNQ2):c.1046C>T (p.Thr349Ile) rs2080906453
NM_172107.4(KCNQ2):c.1160del (p.Pro387fs) rs796052657
NM_172107.4(KCNQ2):c.286C>A (p.His96Asn) rs2082232988
NM_172107.4(KCNQ2):c.584_593delinsA (p.Ser195_Arg198delinsTer) rs118192197
NM_172107.4(KCNQ2):c.787A>G (p.Thr263Ala) rs2081188385
NM_203446.3(SYNJ1):c.1600C>T (p.Arg534Ter) rs1569075471

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