ClinVar Miner

List of variants studied for developmental and epileptic encephalopathy by Center for Bioinformatics, Peking University

Included ClinVar conditions (219):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 223
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HGVS dbSNP gnomAD frequency
NM_001165963.1(SCN1A):c.384_964del
NM_001165963.1(SCN1A):c.4285_4476del
NM_001165963.4(SCN1A):c.1007G>A (p.Cys336Tyr) rs794726798
NM_001165963.4(SCN1A):c.1024G>T (p.Ala342Ser) rs794726843
NM_001165963.4(SCN1A):c.1025C>T (p.Ala342Val) rs794726797
NM_001165963.4(SCN1A):c.1033T>C (p.Cys345Arg) rs794726782
NM_001165963.4(SCN1A):c.1046A>G (p.Tyr349Cys) rs794726844
NM_001165963.4(SCN1A):c.1048A>G (p.Met350Val) rs794726768
NM_001165963.4(SCN1A):c.1055_1056del (p.Val352fs) rs794726767
NM_001165963.4(SCN1A):c.1072C>T (p.Pro358Ser) rs121917923
NM_001165963.4(SCN1A):c.1076A>G (p.Asn359Ser) rs794726713
NM_001165963.4(SCN1A):c.1096_1115del (p.Asp366fs) rs794726792
NM_001165963.4(SCN1A):c.1118del (p.Leu373fs) rs794726695
NM_001165963.4(SCN1A):c.1129C>T (p.Arg377Ter) rs794726799
NM_001165963.4(SCN1A):c.1130G>A (p.Arg377Gln) rs121917957
NM_001165963.4(SCN1A):c.1136T>A (p.Met379Lys) rs794726732
NM_001165963.4(SCN1A):c.1146C>A (p.Asp382Glu) rs794726753
NM_001165963.4(SCN1A):c.1170+1G>T rs794726765
NM_001165963.4(SCN1A):c.1178G>A (p.Arg393His) rs121917927
NM_001165963.4(SCN1A):c.1182_1183insA (p.Ala395fs) rs794726777
NM_001165963.4(SCN1A):c.1183_1184del (p.Ala395fs) rs794726776
NM_001165963.4(SCN1A):c.1197_1198del (p.Met400fs) rs794726818
NM_001165963.4(SCN1A):c.1199T>A (p.Met400Lys) rs794726725
NM_001165963.4(SCN1A):c.121A>T (p.Lys41Ter) rs764444350
NM_001165963.4(SCN1A):c.1259C>T (p.Ala420Val) rs794726826
NM_001165963.4(SCN1A):c.1265T>C (p.Val422Ala) rs121917989
NM_001165963.4(SCN1A):c.1301del (p.Leu434fs) rs794726810
NM_001165963.4(SCN1A):c.1345G>T (p.Glu449Ter) rs794726807
NM_001165963.4(SCN1A):c.1442_1445del (p.Asp481fs) rs794726829
NM_001165963.4(SCN1A):c.1516C>T (p.Gln506Ter) rs794726790
NM_001165963.4(SCN1A):c.1624C>T (p.Arg542Ter)
NM_001165963.4(SCN1A):c.1660dup (p.Gln554fs) rs794726717
NM_001165963.4(SCN1A):c.1662+1G>T rs794726749
NM_001165963.4(SCN1A):c.1662+3A>G rs794726773
NM_001165963.4(SCN1A):c.1663_2176del (p.Ser555Asnfs*21)
NM_001165963.4(SCN1A):c.1667del (p.Leu556fs) rs794726704
NM_001165963.4(SCN1A):c.1738C>T (p.Arg580Ter) rs794726736
NM_001165963.4(SCN1A):c.1804G>T (p.Glu602Ter) rs794726834
NM_001165963.4(SCN1A):c.1834C>T (p.Arg612Ter) rs794726778
NM_001165963.4(SCN1A):c.1837C>T (p.Arg613Ter) rs398123585
NM_001165963.4(SCN1A):c.185del (p.Pro62fs) rs35595680
NM_001165963.4(SCN1A):c.1876A>G (p.Ser626Gly) rs121917990
NM_001165963.4(SCN1A):c.1970C>T (p.Pro657Leu) rs794726838
NM_001165963.4(SCN1A):c.2044_6030del
NM_001165963.4(SCN1A):c.2071A>T (p.Lys691Ter) rs794726747
NM_001165963.4(SCN1A):c.2100del (p.Met701fs) rs794726806
NM_001165963.4(SCN1A):c.2134C>T (p.Arg712Ter) rs794726730
NM_001165963.4(SCN1A):c.2176+3T>A rs794726795
NM_001165963.4(SCN1A):c.2213G>A (p.Trp738Ter) rs794726742
NM_001165963.4(SCN1A):c.2213G>T (p.Trp738Leu) rs794726742
NM_001165963.4(SCN1A):c.2261G>T (p.Trp754Leu) rs794726743
NM_001165963.4(SCN1A):c.2299_2302dup (p.Pro768fs) rs794726750
NM_001165963.4(SCN1A):c.2303C>T (p.Pro768Leu) rs794726766
NM_001165963.4(SCN1A):c.2318_2319insT (p.Ile774fs) rs794726820
NM_001165963.4(SCN1A):c.2353A>G (p.Met785Val) rs767045134
NM_001165963.4(SCN1A):c.2479T>G (p.Tyr827Asp) rs794726805
NM_001165963.4(SCN1A):c.2523_2524del (p.Thr841_Leu842insTer) rs794726738
NM_001165963.4(SCN1A):c.2537A>G (p.Glu846Gly) rs794726794
NM_001165963.4(SCN1A):c.2584C>T (p.Arg862Ter) rs397514459
NM_001165963.4(SCN1A):c.2585G>A (p.Arg862Gln) rs121918785
NM_001165963.4(SCN1A):c.2588T>G (p.Leu863Trp) rs794726712
NM_001165963.4(SCN1A):c.2589+3A>T rs794726775
NM_001165963.4(SCN1A):c.2593C>T (p.Arg865Ter) rs794726697
NM_001165963.4(SCN1A):c.2603del (p.Lys868fs) rs794726787
NM_001165963.4(SCN1A):c.2615C>A (p.Ser872Tyr) rs794726786
NM_001165963.4(SCN1A):c.264+5G>C rs794726762
NM_001165963.4(SCN1A):c.2678T>A (p.Leu893Ter) rs794726815
NM_001165963.4(SCN1A):c.2690T>C (p.Leu897Ser) rs794726761
NM_001165963.4(SCN1A):c.269T>C (p.Phe90Ser) rs121918733
NM_001165963.4(SCN1A):c.2728C>A (p.Gln910Lys) rs794726721
NM_001165963.4(SCN1A):c.272T>C (p.Ile91Thr) rs121918734
NM_001165963.4(SCN1A):c.2780G>T (p.Cys927Phe) rs794726811
NM_001165963.4(SCN1A):c.2792G>A (p.Arg931His) rs794726718
NM_001165963.4(SCN1A):c.2792G>C (p.Arg931Pro) rs794726718
NM_001165963.4(SCN1A):c.2815C>T (p.His939Tyr) rs121918736
NM_001165963.4(SCN1A):c.2836C>T (p.Arg946Cys) rs121918775
NM_001165963.4(SCN1A):c.2837G>C (p.Arg946Pro) rs121917971
NM_001165963.4(SCN1A):c.2854T>G (p.Trp952Gly) rs121918737
NM_001165963.4(SCN1A):c.2872_2881del (p.Asp958fs) rs794726808
NM_001165963.4(SCN1A):c.2876G>A (p.Cys959Tyr) rs794726716
NM_001165963.4(SCN1A):c.2879T>G (p.Met960Arg) rs794726708
NM_001165963.4(SCN1A):c.289_292del (p.Lys97fs) rs794726796
NM_001165963.4(SCN1A):c.2903G>T (p.Cys968Phe) rs794726823
NM_001165963.4(SCN1A):c.2929G>A (p.Val977Met) rs794726828
NM_001165963.4(SCN1A):c.2936G>A (p.Gly979Glu) rs794726842
NM_001165963.4(SCN1A):c.2946+1G>T rs794726772
NM_001165963.4(SCN1A):c.2946+1_2946+2del rs794726714
NM_001165963.4(SCN1A):c.2947del rs1696406839
NM_001165963.4(SCN1A):c.2980_2981del (p.Ser994fs) rs794726830
NM_001165963.4(SCN1A):c.2985T>G (p.Phe995Leu) rs794726746
NM_001165963.4(SCN1A):c.3017del (p.Asp1006fs) rs794726813
NM_001165963.4(SCN1A):c.301C>T (p.Arg101Trp) rs121917965
NM_001165963.4(SCN1A):c.302G>A (p.Arg101Gln) rs121917918
NM_001165963.4(SCN1A):c.3062_3066del (p.Lys1021fs) rs794726756
NM_001165963.4(SCN1A):c.308G>T (p.Ser103Ile) rs760361423
NM_001165963.4(SCN1A):c.3106C>T (p.Gln1036Ter) rs542420576
NM_001165963.4(SCN1A):c.323T>C (p.Leu108Pro) rs794726793
NM_001165963.4(SCN1A):c.337C>A (p.Pro113Thr) rs794726711
NM_001165963.4(SCN1A):c.3439G>T (p.Glu1147Ter) rs794726733
NM_001165963.4(SCN1A):c.3455C>A (p.Ser1152Ter) rs794726728
NM_001165963.4(SCN1A):c.3477del (p.Ile1159fs) rs794726729
NM_001165963.4(SCN1A):c.3487del (p.Pro1162_Val1163insTer) rs794726774
NM_001165963.4(SCN1A):c.3550+1G>A rs794726836
NM_001165963.4(SCN1A):c.3615G>A (p.Trp1205Ter) rs794726720
NM_001165963.4(SCN1A):c.3629C>A (p.Thr1210Lys) rs121918738
NM_001165963.4(SCN1A):c.3637C>T (p.Arg1213Ter) rs794726710
NM_001165963.4(SCN1A):c.3661G>C (p.Glu1221Gln) rs794726854
NM_001165963.4(SCN1A):c.3705+1G>A rs794726744
NM_001165963.4(SCN1A):c.3705+2T>A rs794726735
NM_001165963.4(SCN1A):c.3706G>C (p.Ala1236Pro) rs794726770
NM_001165963.4(SCN1A):c.3726_3727insAT (p.Asp1243fs) rs794726706
NM_001165963.4(SCN1A):c.3730C>T (p.Gln1244Ter) rs794726727
NM_001165963.4(SCN1A):c.3733C>T (p.Arg1245Ter) rs727504136
NM_001165963.4(SCN1A):c.3757G>T (p.Glu1253Ter) rs794726817
NM_001165963.4(SCN1A):c.3763G>C (p.Ala1255Pro) rs777939538
NM_001165963.4(SCN1A):c.3778A>C (p.Thr1260Pro) rs121918739
NM_001165963.4(SCN1A):c.3802_3812del (p.Leu1268fs) rs794726709
NM_001165963.4(SCN1A):c.380A>T (p.His127Leu) rs794726831
NM_001165963.4(SCN1A):c.3818C>T (p.Ala1273Val) rs794726841
NM_001165963.4(SCN1A):c.3821A>C (p.Tyr1274Ser) rs794726852
NM_001165963.4(SCN1A):c.3828T>A (p.Tyr1276Ter) rs794726731
NM_001165963.4(SCN1A):c.383+1A>G rs794726803
NM_001165963.4(SCN1A):c.384-1C>G rs794726764
NM_001165963.4(SCN1A):c.384_1662dup
NM_001165963.4(SCN1A):c.3858G>A (p.Trp1286Ter) rs794726853
NM_001165963.4(SCN1A):c.3860T>C (p.Leu1287Pro) rs121918740
NM_001165963.4(SCN1A):c.3879+1G>T rs794726700
NM_001165963.4(SCN1A):c.3880-2A>G rs794726816
NM_001165963.4(SCN1A):c.3899C>G (p.Thr1300Arg) rs146878122
NM_001165963.4(SCN1A):c.3970_3971dup (p.Leu1324_Arg1325insTer) rs794726723
NM_001165963.4(SCN1A):c.4003G>A (p.Val1335Met) rs121917960
NM_001165963.4(SCN1A):c.4016C>T (p.Ala1339Val) rs794726789
NM_001165963.4(SCN1A):c.4044G>A (p.Met1348Ile) rs794726822
NM_001165963.4(SCN1A):c.4055T>C (p.Leu1352Pro) rs794726821
NM_001165963.4(SCN1A):c.4086C>G (p.Ser1362Arg) rs794726779
NM_001165963.4(SCN1A):c.4088T>A (p.Ile1363Asn) rs794726707
NM_001165963.4(SCN1A):c.4168G>A (p.Val1390Met) rs121917986
NM_001165963.4(SCN1A):c.4168G>C (p.Val1390Leu) rs121917986
NM_001165963.4(SCN1A):c.4188C>A (p.Cys1396Ter) rs794726745
NM_001165963.4(SCN1A):c.4223G>A (p.Trp1408Ter) rs794726784
NM_001165963.4(SCN1A):c.4244_4245del (p.Asn1414_Phe1415insTer) rs794726705
NM_001165963.4(SCN1A):c.4298G>A (p.Gly1433Glu) rs121918741
NM_001165963.4(SCN1A):c.4302G>A (p.Trp1434Ter) rs794726699
NM_001165963.4(SCN1A):c.4338+4A>C rs794726734
NM_001165963.4(SCN1A):c.4338_6030del (p.Asn1446_Gly2008del)
NM_001165963.4(SCN1A):c.433A>G (p.Met145Val) rs794726849
NM_001165963.4(SCN1A):c.4351C>A (p.Pro1451Thr) rs794726696
NM_001165963.4(SCN1A):c.4412C>T (p.Ser1471Phe) rs794726809
NM_001165963.4(SCN1A):c.4547C>G (p.Ser1516Trp) rs139300715
NM_001165963.4(SCN1A):c.4549A>T (p.Lys1517Ter) rs794726835
NM_001165963.4(SCN1A):c.4554del (p.Lys1518fs) rs794726825
NM_001165963.4(SCN1A):c.4573C>T (p.Arg1525Ter) rs794726752
NM_001165963.4(SCN1A):c.4611_4645dup (p.Ile1549delinsThrTer) rs794726757
NM_001165963.4(SCN1A):c.473+1G>C rs794726840
NM_001165963.4(SCN1A):c.474_602del (p.Thr160_Tyr202del) rs1553551314
NM_001165963.4(SCN1A):c.4757G>A (p.Gly1586Glu) rs121918742
NM_001165963.4(SCN1A):c.4766T>G (p.Val1589Gly) rs764037830
NM_001165963.4(SCN1A):c.4811G>A (p.Trp1604Ter) rs794726800
NM_001165963.4(SCN1A):c.4822G>T (p.Asp1608Tyr) rs121917915
NM_001165963.4(SCN1A):c.4823del (p.Asp1608fs) rs794726785
NM_001165963.4(SCN1A):c.4829_4830dup (p.Val1611fs) rs794726850
NM_001165963.4(SCN1A):c.4879_4883dup (p.Tyr1628Ter) rs794726701
NM_001165963.4(SCN1A):c.4906C>T (p.Arg1636Ter) rs199727342
NM_001165963.4(SCN1A):c.4933C>T (p.Arg1645Ter) rs794726759
NM_001165963.4(SCN1A):c.4934G>C (p.Arg1645Pro) rs121917976
NM_001165963.4(SCN1A):c.4973C>T (p.Thr1658Met) rs121917922
NM_001165963.4(SCN1A):c.4985C>T (p.Ala1662Val) rs794726839
NM_001165963.4(SCN1A):c.4993_4996dup (p.Ser1666fs) rs794726819
NM_001165963.4(SCN1A):c.4997C>T (p.Ser1666Phe) rs794726760
NM_001165963.4(SCN1A):c.5003C>G (p.Pro1668Arg) rs794726698
NM_001165963.4(SCN1A):c.5003del (p.Pro1668fs) rs794726758
NM_001165963.4(SCN1A):c.5010_5013del (p.Phe1671fs) rs794726754
NM_001165963.4(SCN1A):c.5014A>C (p.Asn1672His) rs794726740
NM_001165963.4(SCN1A):c.5063G>T (p.Gly1688Val) rs794726851
NM_001165963.4(SCN1A):c.5082T>G (p.Tyr1694Ter) rs794726748
NM_001165963.4(SCN1A):c.5106T>A (p.Asp1702Glu) rs794726804
NM_001165963.4(SCN1A):c.5108A>T (p.Asp1703Val) rs794726802
NM_001165963.4(SCN1A):c.5222G>A (p.Cys1741Tyr) rs794726763
NM_001165963.4(SCN1A):c.5250_5251insGG (p.Ser1751fs) rs794726702
NM_001165963.4(SCN1A):c.5250_5252del (p.Ser1750_Ser1751delinsArg) rs794726703
NM_001165963.4(SCN1A):c.5264A>G (p.Asp1755Gly) rs794726722
NM_001165963.4(SCN1A):c.5284_5291dup (p.Phe1764fs) rs794726814
NM_001165963.4(SCN1A):c.5297_5298del (p.Phe1766fs) rs794726832
NM_001165963.4(SCN1A):c.530G>T (p.Gly177Val) rs121918770
NM_001165963.4(SCN1A):c.5334del (p.Asn1779fs) rs794726783
NM_001165963.4(SCN1A):c.5346C>G (p.Ile1782Met) rs121918763
NM_001165963.4(SCN1A):c.5347G>A (p.Ala1783Thr) rs121917980
NM_001165963.4(SCN1A):c.5348C>T (p.Ala1783Val) rs121917921
NM_001165963.4(SCN1A):c.5349_5352dup (p.Ile1785fs) rs794726741
NM_001165963.4(SCN1A):c.5404G>T (p.Glu1802Ter) rs794726780
NM_001165963.4(SCN1A):c.5461C>T (p.Gln1821Ter) rs794726781
NM_001165963.4(SCN1A):c.5470G>T (p.Glu1824Ter) rs794726769
NM_001165963.4(SCN1A):c.5515C>G (p.Leu1839Val) rs794726801
NM_001165963.4(SCN1A):c.5536A>T (p.Lys1846Ter) rs372098964
NM_001165963.4(SCN1A):c.5536_5539del (p.Lys1846fs) rs794726726
NM_001165963.4(SCN1A):c.5555T>C (p.Met1852Thr) rs121918783
NM_001165963.4(SCN1A):c.5656C>T (p.Arg1886Ter) rs779614747
NM_001165963.4(SCN1A):c.5662C>T (p.Gln1888Ter) rs794726845
NM_001165963.4(SCN1A):c.5674C>T (p.Arg1892Ter) rs794726739
NM_001165963.4(SCN1A):c.568T>C (p.Trp190Arg) rs121918773
NM_001165963.4(SCN1A):c.5780G>C (p.Arg1927Thr) rs794726737
NM_001165963.4(SCN1A):c.602+1G>T rs794726827
NM_001165963.4(SCN1A):c.602+3A>C rs794726833
NM_001165963.4(SCN1A):c.659_662del (p.Val220fs) rs794726724
NM_001165963.4(SCN1A):c.664C>T (p.Arg222Ter) rs121918624
NM_001165963.4(SCN1A):c.675G>C (p.Lys225Asn) rs794726719
NM_001165963.4(SCN1A):c.680T>G (p.Ile227Ser) rs121917937
NM_001165963.4(SCN1A):c.694+5G>C rs727504142
NM_001165963.4(SCN1A):c.70G>A (p.Ala24Thr) rs794726848
NM_001165963.4(SCN1A):c.715G>A (p.Ala239Thr) rs121917985
NM_001165963.4(SCN1A):c.728C>A (p.Ser243Tyr) rs794726755
NM_001165963.4(SCN1A):c.747T>G (p.Asp249Glu) rs773407463
NM_001165963.4(SCN1A):c.751del (p.Val250_Met251insTer) rs794726751
NM_001165963.4(SCN1A):c.769T>C (p.Cys257Arg) rs794726771
NM_001165963.4(SCN1A):c.777C>A (p.Ser259Arg) rs121918735
NM_001165963.4(SCN1A):c.825_826insGTATA (p.Lys276delinsValTer) rs794726812
NM_001165963.4(SCN1A):c.826A>C (p.Lys276Gln) rs794726847
NM_001165963.4(SCN1A):c.838T>C (p.Trp280Arg) rs121917938
NM_001165963.4(SCN1A):c.896_905del (p.Asn299fs) rs794726788
NM_001165963.4(SCN1A):c.930_931dup (p.Glu311fs) rs794726846
NM_001165963.4(SCN1A):c.964+14T>G rs794726837
NM_001165963.4(SCN1A):c.965-1G>A rs794726824
NM_006920.4(SCN1A):c.384_473del (p.Leu129_Glu158del)

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