ClinVar Miner

List of variants studied for adolescent-onset epilepsy syndrome by Bioinformatics Core,Luxembourg Center for Systems Biomedicine

Included ClinVar conditions (80):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 111
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HGVS dbSNP
NM_000100.3(CSTB):c.202C>T (p.Arg68Ter) rs74315442
NM_001003787.4(STRADA):c.179G>T (p.Ser60Ile) rs56271007
NM_001003787.4(STRADA):c.190C>T (p.Pro64Ser) rs55695051
NM_001003787.4(STRADA):c.403G>A (p.Ala135Thr) rs1555699052
NM_001037.5(SCN1B):c.472G>C (p.Val158Leu) rs138450474
NM_001040142.2(SCN2A):c.2182T>C (p.Cys728Arg) rs1553574522
NM_001040142.2(SCN2A):c.3457G>A (p.Glu1153Lys) rs200138205
NM_001082575.2(RBFOX3):c.861C>A (p.Tyr287Ter) rs972548690
NM_001130438.3(SPTAN1):c.1303T>G (p.Ser435Ala) rs144787939
NM_001130438.3(SPTAN1):c.2224C>T (p.Arg742Cys) rs780658554
NM_001130438.3(SPTAN1):c.3673C>T (p.Arg1225Trp) rs569997507
NM_001130438.3(SPTAN1):c.3720-5T>G rs200543425
NM_001130438.3(SPTAN1):c.4283C>G (p.Ala1428Gly) rs143166100
NM_001130438.3(SPTAN1):c.4852G>A (p.Gly1618Ser) rs1554759745
NM_001130438.3(SPTAN1):c.6854A>G (p.Asn2285Ser) rs1441152520
NM_001134407.3(GRIN2A):c.1007+1G>A rs397518465
NM_001134407.3(GRIN2A):c.1007+1G>T rs397518465
NM_001134407.3(GRIN2A):c.1306T>C (p.Cys436Arg) rs1555496111
NM_001134407.3(GRIN2A):c.1639_1641del (p.Ser547del) rs1555494676
NM_001134407.3(GRIN2A):c.2095C>T (p.Pro699Ser) rs1555491648
NM_001134407.3(GRIN2A):c.2179G>A (p.Ala727Thr) rs1555488144
NM_001134407.3(GRIN2A):c.2200G>C (p.Val734Leu) rs1439688451
NM_001134407.3(GRIN2A):c.236C>G (p.Pro79Arg) rs1250662891
NM_001134407.3(GRIN2A):c.2441T>C (p.Ile814Thr) rs780654733
NM_001134407.3(GRIN2A):c.2710A>T (p.Ile904Phe) rs1555482933
NM_001134407.3(GRIN2A):c.547T>A (p.Phe183Ile) rs587780353
NM_001134407.3(GRIN2A):c.692G>A (p.Cys231Tyr) rs1238779318
NM_001184880.2(PCDH19):c.3319C>G (p.Arg1107Gly) rs191333060
NM_001199107.2(TBC1D24):c.169C>T (p.Arg57Cys) rs202162520
NM_001242897.2(DEPDC5):c.-57G>C rs1383795440
NM_001242897.2(DEPDC5):c.1870+3481C>T rs181347577
NM_001242897.2(DEPDC5):c.1870+3527A>C rs370940232
NM_001242897.2(DEPDC5):c.1901C>T (p.Ser634Phe) rs16989535
NM_001242897.2(DEPDC5):c.2258_2259insAGA (p.Ser753delinsArgAsp) rs1555897392
NM_001242897.2(DEPDC5):c.268G>A (p.Val90Ile) rs768456731
NM_001242897.2(DEPDC5):c.3007A>C (p.Thr1003Pro) rs142540948
NM_001242897.2(DEPDC5):c.3030+3812C>T rs371377906
NM_001242897.2(DEPDC5):c.3144del (p.Ile1048fs) rs886039266
NM_001242897.2(DEPDC5):c.3184A>G (p.Ser1062Gly) rs886039280
NM_001242897.2(DEPDC5):c.814G>T (p.Val272Leu) rs187334123
NM_001271.4(CHD2):c.149G>A (p.Gly50Asp) rs1555437424
NM_001271.4(CHD2):c.4058C>T (p.Pro1353Leu) rs755088564
NM_001271.4(CHD2):c.4534C>T (p.Arg1512Trp) rs755898320
NM_001271.4(CHD2):c.4829C>T (p.Ala1610Val) rs1555445693
NM_001320643.3(SIK1B):c.379C>T (p.Arg127Trp) rs1555841977
NM_001365999.1(SZT2):c.105C>G (p.Phe35Leu) rs1553138299
NM_001365999.1(SZT2):c.2812G>A (p.Ala938Thr) rs143880787
NM_001365999.1(SZT2):c.3977C>T (p.Ala1326Val) rs747241860
NM_001365999.1(SZT2):c.4135C>T (p.Arg1379Trp) rs752473314
NM_001365999.1(SZT2):c.5165G>A (p.Arg1722His) rs562214305
NM_001365999.1(SZT2):c.5515C>T (p.Arg1839Cys) rs147748994
NM_001365999.1(SZT2):c.5938G>A (p.Val1980Met) rs780805483
NM_001365999.1(SZT2):c.7112A>T (p.Glu2371Val) rs1306918506
NM_001365999.1(SZT2):c.7887G>A (p.Met2629Ile) rs748723710
NM_001365999.1(SZT2):c.8803C>T (p.Arg2935Trp) rs1553154643
NM_001365999.1(SZT2):c.8939C>T (p.Thr2980Ile) rs766294629
NM_002977.3(SCN9A):c.1846G>A (p.Gly616Arg) rs201338643
NM_002977.3(SCN9A):c.1946C>T (p.Thr649Met) rs200965749
NM_002977.3(SCN9A):c.2969A>G (p.Tyr990Cys) rs199692186
NM_002977.3(SCN9A):c.3316G>T (p.Val1106Leu) rs200817435
NM_002977.3(SCN9A):c.3799C>G (p.Leu1267Val) rs180922748
NM_003042.4(SLC6A1):c.830G>A (p.Arg277His) rs752396911
NM_004315.6(ASAH1):c.35G>C (p.Arg12Pro) rs147896487
NM_004519.4(KCNQ3):c.1000G>A (p.Ala334Thr) rs1381851622
NM_004519.4(KCNQ3):c.1142C>T (p.Ala381Val) rs1554626549
NM_004519.4(KCNQ3):c.1885G>C (p.Val629Leu) rs185511111
NM_004519.4(KCNQ3):c.2263G>A (p.Asp755Asn) rs150821246
NM_005045.4(RELN):c.10093G>A (p.Val3365Ile) rs115035120
NM_005045.4(RELN):c.139G>A (p.Glu47Lys) rs139648092
NM_005045.4(RELN):c.2932A>G (p.Thr978Ala) rs3025962
NM_005045.4(RELN):c.3477C>A (p.Asn1159Lys) rs114684479
NM_005045.4(RELN):c.5284G>A (p.Val1762Ile) rs79499902
NM_005045.4(RELN):c.5791A>G (p.Asn1931Asp) rs369993428
NM_005045.4(RELN):c.8843+3A>C rs200124755
NM_005045.4(RELN):c.9976C>T (p.Arg3326Ter) rs751409835
NM_005506.4(SCARB2):c.1010T>C (p.Met337Thr) rs147324129
NM_005506.4(SCARB2):c.80G>A (p.Arg27Gln) rs368906199
NM_005670.4(EPM2A):c.314A>G (p.His105Arg) rs1554263366
NM_006516.3(SLC2A1):c.1010A>T (p.His337Leu) rs1553155982
NM_006920.6(SCN1A):c.1625G>A (p.Arg542Gln) rs121918817
NM_006920.6(SCN1A):c.3488C>G (p.Thr1163Ser) rs121918799
NM_007327.4(GRIN1):c.2504T>C (p.Ile835Thr) rs1554770659
NM_014141.6(CNTNAP2):c.1249G>T (p.Asp417Tyr) rs147815978
NM_014141.6(CNTNAP2):c.2147A>G (p.Tyr716Cys) rs760930032
NM_014141.6(CNTNAP2):c.2290C>A (p.His764Asn) rs201446615
NM_014141.6(CNTNAP2):c.2651G>A (p.Arg884Gln) rs758630057
NM_014141.6(CNTNAP2):c.3577G>A (p.Ala1193Thr) rs751491210
NM_014141.6(CNTNAP2):c.755-5C>T rs369675346
NM_015192.4(PLCB1):c.3382C>T (p.His1128Tyr) rs1555790846
NM_016097.5(IER3IP1):c.*58T>C rs150586939
NM_016373.4(WWOX):c.1222C>T (p.Arg408Trp) rs144234059
NM_016373.4(WWOX):c.754C>G (p.Pro252Ala) rs75559202
NM_016373.4(WWOX):c.990C>G (p.Asn330Lys) rs117209694
NM_018723.4(RBFOX1):c.1057G>A (p.Gly353Ser) rs145873257
NM_018723.4(RBFOX1):c.538G>A (p.Val180Met) rs372761949
NM_018723.4(RBFOX1):c.677-5C>T rs147023054
NM_018723.4(RBFOX1):c.979_984del (p.Ala327_Ala328del) rs974157467
NM_020361.5(CPA6):c.557A>G (p.Lys186Arg) rs199576384
NM_020361.5(CPA6):c.619C>G (p.Gln207Glu) rs35993949
NM_020361.5(CPA6):c.799G>A (p.Gly267Arg) rs61738009
NM_020822.3(KCNT1):c.3641G>A (p.Arg1214Gln) rs138282349
NM_024700.4(SNIP1):c.331C>T (p.Arg111Cys) rs202020647
NM_153026.3(PRICKLE1):c.100G>A (p.Ala34Thr) rs781255236
NM_153026.3(PRICKLE1):c.2216C>T (p.Ser739Phe) rs138452760
NM_153026.3(PRICKLE1):c.370G>A (p.Ala124Thr) rs79087668
NM_177924.5(ASAH1):c.620A>T (p.Tyr207Phe) rs150268016
NM_177924.5(ASAH1):c.629T>C (p.Met210Thr) rs141068211
NM_198859.4(PRICKLE2):c.1314G>C (p.Gln438His) rs202170644
NM_198903.2(GABRG2):c.1088G>A (p.Arg363Gln) rs397514737
NM_198903.2(GABRG2):c.549-3T>G rs750459631
NM_198903.2(GABRG2):c.889G>A (p.Gly297Arg) rs1554098235

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