ClinVar Miner

List of variants reported as likely pathogenic for Early infantile epileptic encephalopathy with suppression bursts

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ClinVar version:
Total variants: 199
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HGVS dbSNP
NC_000009.12:g.(?_127672031)_(127676773_?)del
NC_000009.12:g.(?_127678411)_(127690877_?)del
NC_000020.10:g.(?_62050952)_(62078210_?)del
NC_000020.10:g.(?_62065192_62071475del
NC_000020.10:g.(?_62069958)_(62070093_?)del
NC_000020.11:g.(?_63406624)_(63407395_?)del
NM_001032221.6(STXBP1):c.1039C>G (p.His347Asp)
NM_001032221.6(STXBP1):c.1111-2A>G rs1554778417
NM_001032221.6(STXBP1):c.1360-2A>C
NM_001032221.6(STXBP1):c.1438C>T (p.Pro480Ser)
NM_001032221.6(STXBP1):c.1630G>C (p.Gly544Arg)
NM_001032221.6(STXBP1):c.218_246+22del
NM_001032221.6(STXBP1):c.325+2T>A
NM_001032221.6(STXBP1):c.98T>A (p.Val33Glu)
NM_001130438.3(SPTAN1):c.5194A>T (p.Ser1732Cys)
NM_001130438.3(SPTAN1):c.5921A>G (p.Lys1974Arg)
NM_001130438.3(SPTAN1):c.6843_6848del (p.Ile2282_Leu2283del) rs1589416130
NM_001130438.3(SPTAN1):c.6922C>T (p.Arg2308Cys) rs796053328
NM_001130438.3(SPTAN1):c.7012A>G (p.Lys2338Glu) rs1554769099
NM_001165963.4(SCN1A):c.1008T>G (p.Cys336Trp) rs1553548096
NM_001165963.4(SCN1A):c.1028G>C (p.Gly343Ala) rs121918753
NM_001165963.4(SCN1A):c.1076A>G (p.Asn359Ser) rs794726713
NM_001165963.4(SCN1A):c.1121C>A (p.Ser374Tyr)
NM_001165963.4(SCN1A):c.1130G>A (p.Arg377Gln) rs121917957
NM_001165963.4(SCN1A):c.1144G>A (p.Asp382Asn)
NM_001165963.4(SCN1A):c.1160T>C (p.Leu387Pro)
NM_001165963.4(SCN1A):c.1229G>T (p.Gly410Val)
NM_001165963.4(SCN1A):c.1248T>A (p.Asn416Lys) rs748267258
NM_001165963.4(SCN1A):c.1377+2T>C
NM_001165963.4(SCN1A):c.149_151del (p.Lys50_Pro51delinsThr)
NM_001165963.4(SCN1A):c.172G>A (p.Gly58Arg)
NM_001165963.4(SCN1A):c.172_183del (p.Gly58_Leu61del) rs1553560760
NM_001165963.4(SCN1A):c.214_216dup (p.Met72dup) rs1553560740
NM_001165963.4(SCN1A):c.2353A>G (p.Met785Val) rs767045134
NM_001165963.4(SCN1A):c.2355G>A (p.Met785Ile)
NM_001165963.4(SCN1A):c.2429T>A (p.Ile810Asn)
NM_001165963.4(SCN1A):c.242A>G (p.Asp81Gly)
NM_001165963.4(SCN1A):c.2585G>A (p.Arg862Gln) rs121918785
NM_001165963.4(SCN1A):c.2585G>T (p.Arg862Leu)
NM_001165963.4(SCN1A):c.264+3G>C
NM_001165963.4(SCN1A):c.2665G>A (p.Ala889Thr) rs1266877537
NM_001165963.4(SCN1A):c.2729A>T (p.Gln910Leu) rs1064795735
NM_001165963.4(SCN1A):c.2791C>G (p.Arg931Gly)
NM_001165963.4(SCN1A):c.2792G>C (p.Arg931Pro) rs794726718
NM_001165963.4(SCN1A):c.2796G>T (p.Trp932Cys)
NM_001165963.4(SCN1A):c.2835C>G (p.Phe945Leu)
NM_001165963.4(SCN1A):c.2848G>A (p.Gly950Arg)
NM_001165963.4(SCN1A):c.2861A>T (p.Glu954Val) rs878854262
NM_001165963.4(SCN1A):c.2869T>G (p.Trp957Gly)
NM_001165963.4(SCN1A):c.2904C>G (p.Cys968Trp)
NM_001165963.4(SCN1A):c.2928G>A (p.Met976Ile)
NM_001165963.4(SCN1A):c.2947G>T (p.Val983Phe)
NM_001165963.4(SCN1A):c.2T>C (p.Met1Thr) rs1553561023
NM_001165963.4(SCN1A):c.3430-2A>G
NM_001165963.4(SCN1A):c.3551-1_3551delinsCT
NM_001165963.4(SCN1A):c.3551-2A>T
NM_001165963.4(SCN1A):c.3611G>C (p.Trp1204Ser)
NM_001165963.4(SCN1A):c.3734G>A (p.Arg1245Gln) rs121917912
NM_001165963.4(SCN1A):c.3752T>G (p.Met1251Arg) rs749638533
NM_001165963.4(SCN1A):c.379C>T (p.His127Tyr) rs148442069
NM_001165963.4(SCN1A):c.3863A>C (p.Asp1288Ala)
NM_001165963.4(SCN1A):c.3925C>T (p.Leu1309Phe) rs121918801
NM_001165963.4(SCN1A):c.4033C>T (p.Pro1345Ser) rs1574006857
NM_001165963.4(SCN1A):c.4040T>C (p.Ile1347Thr)
NM_001165963.4(SCN1A):c.4048G>C (p.Val1350Leu) rs1574006637
NM_001165963.4(SCN1A):c.4052T>C (p.Leu1351Pro) rs1553525313
NM_001165963.4(SCN1A):c.423C>A (p.Asn141Lys) rs1559249734
NM_001165963.4(SCN1A):c.4244T>C (p.Phe1415Ser)
NM_001165963.4(SCN1A):c.4267C>G (p.Leu1423Val) rs1060502190
NM_001165963.4(SCN1A):c.4414T>C (p.Phe1472Leu)
NM_001165963.4(SCN1A):c.4453A>G (p.Asn1485Asp) rs1553522331
NM_001165963.4(SCN1A):c.4481G>A (p.Gly1494Glu)
NM_001165963.4(SCN1A):c.4555C>T (p.Pro1519Ser)
NM_001165963.4(SCN1A):c.4556C>G (p.Pro1519Arg) rs372425457
NM_001165963.4(SCN1A):c.4631A>G (p.Asp1544Gly) rs1573964628
NM_001165963.4(SCN1A):c.4634T>A (p.Ile1545Lys)
NM_001165963.4(SCN1A):c.4681G>A (p.Glu1561Lys)
NM_001165963.4(SCN1A):c.4807G>T (p.Gly1603Ter) rs761333438
NM_001165963.4(SCN1A):c.4964G>C (p.Gly1655Ala) rs1553520439
NM_001165963.4(SCN1A):c.4970G>A (p.Arg1657His) rs121917994
NM_001165963.4(SCN1A):c.4991T>C (p.Met1664Thr) rs121918765
NM_001165963.4(SCN1A):c.5006C>A (p.Ala1669Glu) rs397514458
NM_001165963.4(SCN1A):c.5036T>C (p.Leu1679Pro)
NM_001165963.4(SCN1A):c.5039T>A (p.Val1680Asp) rs1553520380
NM_001165963.4(SCN1A):c.5114_5115delinsGT (p.Phe1705Cys)
NM_001165963.4(SCN1A):c.5167T>C (p.Ser1723Pro) rs1553520320
NM_001165963.4(SCN1A):c.5174G>A (p.Gly1725Asp) rs1553520318
NM_001165963.4(SCN1A):c.5179G>C (p.Asp1727His)
NM_001165963.4(SCN1A):c.5179G>T (p.Asp1727Tyr)
NM_001165963.4(SCN1A):c.5224G>A (p.Asp1742Asn)
NM_001165963.4(SCN1A):c.5288_5289delinsCCCATCTG (p.Ile1763delinsThrHisLeu) rs1573948129
NM_001165963.4(SCN1A):c.5293T>C (p.Phe1765Leu)
NM_001165963.4(SCN1A):c.5318C>A (p.Ser1773Tyr) rs121917951
NM_001165963.4(SCN1A):c.5318C>T (p.Ser1773Phe) rs121917951
NM_001165963.4(SCN1A):c.557T>C (p.Leu186Pro) rs1559245847
NM_001165963.4(SCN1A):c.5597A>G (p.Asp1866Gly) rs1553520029
NM_001165963.4(SCN1A):c.563A>T (p.Asp188Val) rs121917953
NM_001165963.4(SCN1A):c.5719ACT[2] (p.Thr1909del) rs1553519902
NM_001165963.4(SCN1A):c.5756C>G (p.Ala1919Gly)
NM_001165963.4(SCN1A):c.5767C>A (p.Gln1923Lys) rs1553519865
NM_001165963.4(SCN1A):c.5769G>C (p.Gln1923His)
NM_001165963.4(SCN1A):c.5781_5782delinsTG (p.Arg1927_Arg1928delinsSerGly)
NM_001165963.4(SCN1A):c.673A>G (p.Lys225Glu) rs1574271827
NM_001165963.4(SCN1A):c.695-2A>G
NM_001165963.4(SCN1A):c.752T>G (p.Met251Arg) rs1553549834
NM_001165963.4(SCN1A):c.755T>C (p.Ile252Thr) rs121918780
NM_001165963.4(SCN1A):c.797T>C (p.Leu266Pro) rs1559238432
NM_001165963.4(SCN1A):c.942G>C (p.Trp314Cys) rs1553549471
NM_001165963.4(SCN1A):c.965G>T (p.Arg322Ile) rs121917928
NM_001165963.4(SCN1A):c.984_986del (p.Glu328_Gly329delinsAsp)
NM_001165963.4(SCN1A):c.997G>A (p.Ala333Thr)
NM_001330260.2(SCN8A):c.1106A>T (p.Gln369Leu)
NM_001330260.2(SCN8A):c.1250A>C (p.Gln417Pro) rs878854973
NM_001330260.2(SCN8A):c.2519T>G (p.Leu840Arg) rs878854974
NM_001330260.2(SCN8A):c.2543T>G (p.Leu848Trp) rs886043686
NM_001330260.2(SCN8A):c.2799G>T (p.Leu933Phe)
NM_001330260.2(SCN8A):c.3563G>A (p.Arg1188Gln) rs1555226375
NM_001330260.2(SCN8A):c.4049C>T (p.Ala1350Val) rs1592162506
NM_001330260.2(SCN8A):c.4393G>A (p.Asp1465Asn)
NM_001330260.2(SCN8A):c.4819G>A (p.Glu1607Lys)
NM_001330260.2(SCN8A):c.4840A>G (p.Thr1614Ala) rs1555230909
NM_001330260.2(SCN8A):c.4880T>A (p.Ile1627Asn)
NM_001330260.2(SCN8A):c.5579_5599dup (p.Gln1867_Gln1868insArgGluLeuAspIleLeuArg)
NM_001330260.2(SCN8A):c.614C>A (p.Ala205Glu) rs796053233
NM_001330260.2(SCN8A):c.615-230T>C rs1057518487
NM_001330260.2(SCN8A):c.765G>T (p.Met255Ile)
NM_001330260.2(SCN8A):c.800T>C (p.Leu267Ser) rs878853250
NM_002080.4(GOT2):c.1009C>G (p.Arg337Gly) rs1247507359
NM_002080.4(GOT2):c.1097G>T (p.Gly366Val) rs1597696047
NM_002080.4(GOT2):c.618TCT[2] (p.Leu209del) rs1473654961
NM_002080.4(GOT2):c.784C>G (p.Arg262Gly) rs752927520
NM_003165.4(STXBP1):c.1360-2A>T rs1057522982
NM_003165.4(STXBP1):c.326-1G>T rs1554776948
NM_003165.4(STXBP1):c.385A>C (p.Thr129Pro) rs1060501724
NM_004975.4(KCNB1):c.1463G>A (p.Trp488Ter)
NM_004975.4(KCNB1):c.956C>T (p.Ser319Phe)
NM_006030.4(CACNA2D2):c.1340-2A>G
NM_006030.4(CACNA2D2):c.1389+2T>C rs1575601202
NM_006030.4(CACNA2D2):c.1845+1G>T
NM_006030.4(CACNA2D2):c.206_206+34del
NM_006030.4(CACNA2D2):c.2234+1G>A
NM_006030.4(CACNA2D2):c.784+1G>C
NM_006030.4(CACNA2D2):c.842+1G>A
NM_006920.6(SCN1A):c.264+1G>C rs1553560677
NM_006920.6(SCN1A):c.264+4_264+7del rs1574370981
NM_006920.6(SCN1A):c.265-3C>G rs1553553614
NM_006920.6(SCN1A):c.383+5C>G rs1060502185
NM_006920.6(SCN1A):c.4395C>A (p.Asn1465Lys) rs1573984110
NM_006920.6(SCN1A):c.4444-2A>G rs863225036
NM_006920.6(SCN1A):c.4530_4548+39del rs1559114202
NM_006920.6(SCN1A):c.4829T>C (p.Leu1610Pro) rs1573953706
NM_006920.6(SCN1A):c.965-1G>A rs794726824
NM_020988.3(GNAO1):c.133G>C (p.Gly45Arg) rs869312939
NM_020988.3(GNAO1):c.140G>A (p.Ser47Asn) rs1596787821
NM_020988.3(GNAO1):c.649G>A (p.Glu217Lys) rs1555507477
NM_021072.4(HCN1):c.701A>T (p.Tyr234Phe) rs1554037381
NM_172107.4(KCNQ2):c.1003C>T (p.Pro335Ser) rs1555869700
NM_172107.4(KCNQ2):c.1024-2A>C
NM_172107.4(KCNQ2):c.1058G>A (p.Arg353His) rs796052645
NM_172107.4(KCNQ2):c.1065C>A (p.Asp355Glu)
NM_172107.4(KCNQ2):c.1118+2T>C rs886042605
NM_172107.4(KCNQ2):c.1149-1G>T rs1600714727
NM_172107.4(KCNQ2):c.1218-1G>A rs1568899375
NM_172107.4(KCNQ2):c.1618A>G (p.Ile540Val)
NM_172107.4(KCNQ2):c.1619T>G (p.Ile540Ser)
NM_172107.4(KCNQ2):c.1639C>T (p.Arg547Trp) rs796052650
NM_172107.4(KCNQ2):c.1679G>A (p.Arg560Gln) rs1057517919
NM_172107.4(KCNQ2):c.1749G>C (p.Lys583Asn)
NM_172107.4(KCNQ2):c.1903AAG[1] (p.Lys636del)
NM_172107.4(KCNQ2):c.2173_2179dup (p.Gly727fs) rs1060500603
NM_172107.4(KCNQ2):c.2278del (p.Arg760fs) rs1555850590
NM_172107.4(KCNQ2):c.302T>A (p.Leu101His)
NM_172107.4(KCNQ2):c.380A>G (p.Tyr127Cys) rs796052617
NM_172107.4(KCNQ2):c.388-1G>A
NM_172107.4(KCNQ2):c.514+1G>A
NM_172107.4(KCNQ2):c.515A>G (p.Asp172Gly) rs1555873823
NM_172107.4(KCNQ2):c.583T>C (p.Ser195Pro) rs796052620
NM_172107.4(KCNQ2):c.593G>C (p.Arg198Pro)
NM_172107.4(KCNQ2):c.620G>A (p.Arg207Gln) rs118192200
NM_172107.4(KCNQ2):c.622A>G (p.Met208Val) rs118192201
NM_172107.4(KCNQ2):c.638G>A (p.Arg213Gln)
NM_172107.4(KCNQ2):c.684C>A (p.His228Gln) rs118192204
NM_172107.4(KCNQ2):c.689A>T (p.Lys230Met)
NM_172107.4(KCNQ2):c.691-1G>A
NM_172107.4(KCNQ2):c.749T>G (p.Val250Gly) rs118192206
NM_172107.4(KCNQ2):c.782T>G (p.Phe261Cys)
NM_172107.4(KCNQ2):c.797A>G (p.Asp266Gly)
NM_172107.4(KCNQ2):c.829A>T (p.Thr277Ser) rs1555870554
NM_172107.4(KCNQ2):c.844G>A (p.Asp282Asn) rs796052636
NM_172107.4(KCNQ2):c.847A>G (p.Lys283Glu) rs1600755429
NM_172107.4(KCNQ2):c.875T>C (p.Leu292Pro) rs1060500602
NM_172107.4(KCNQ2):c.901G>A (p.Gly301Ser) rs1057516099
NM_172107.4(KCNQ2):c.915C>A (p.Phe305Leu) rs775918190
NM_172107.4(KCNQ2):c.917C>A (p.Ala306Glu)
NM_172107.4(KCNQ2):c.927+1G>C rs1555870346
NM_172107.4(KCNQ2):c.927+2T>C
NM_172107.4(KCNQ2):c.970C>T (p.His324Tyr)
NM_172107.4(KCNQ2):c.994A>G (p.Arg332Gly) rs1555869758
NM_173728.4(ARHGEF15):c.709_723del (p.Val237_Ala241del) rs1555546796

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