ClinVar Miner

List of variants studied for Severe myoclonic epilepsy in infancy by Center for Bioinformatics, Peking University

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ClinVar version:
Total variants: 223
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HGVS dbSNP
NM_001165963.1(SCN1A):c.1663_2176del
NM_001165963.1(SCN1A):c.2044_6030del
NM_001165963.1(SCN1A):c.384_1662dup
NM_001165963.1(SCN1A):c.384_964del
NM_001165963.1(SCN1A):c.4285_4476del
NM_001165963.1(SCN1A):c.4338_6030del
NM_001165963.2(SCN1A):c.2947del (p.Val983Serfs) rs794726715
NM_006920.4(SCN1A):c.384_473del (p.Leu129_Glu158del) rs1553552270
NM_006920.6(SCN1A):c.1007G>A (p.Cys336Tyr) rs794726798
NM_006920.6(SCN1A):c.1024G>T (p.Ala342Ser) rs794726843
NM_006920.6(SCN1A):c.1025C>T (p.Ala342Val) rs794726797
NM_006920.6(SCN1A):c.1033T>C (p.Cys345Arg) rs794726782
NM_006920.6(SCN1A):c.1046A>G (p.Tyr349Cys) rs794726844
NM_006920.6(SCN1A):c.1048A>G (p.Met350Val) rs794726768
NM_006920.6(SCN1A):c.1049_1050TG[3] (p.Val352fs) rs794726767
NM_006920.6(SCN1A):c.1072C>T (p.Pro358Ser) rs121917923
NM_006920.6(SCN1A):c.1076A>G (p.Asn359Ser) rs794726713
NM_006920.6(SCN1A):c.1096_1115del (p.Asp366fs) rs794726792
NM_006920.6(SCN1A):c.1118del (p.Leu373fs) rs794726695
NM_006920.6(SCN1A):c.1129C>T (p.Arg377Ter) rs794726799
NM_006920.6(SCN1A):c.1130G>A (p.Arg377Gln) rs121917957
NM_006920.6(SCN1A):c.1136T>A (p.Met379Lys) rs794726732
NM_006920.6(SCN1A):c.1146C>A (p.Asp382Glu) rs794726753
NM_006920.6(SCN1A):c.1170+1G>T rs794726765
NM_006920.6(SCN1A):c.1178G>A (p.Arg393His) rs121917927
NM_006920.6(SCN1A):c.1182_1183insA (p.Ala395fs) rs794726777
NM_006920.6(SCN1A):c.1183_1184del (p.Ala395fs) rs794726776
NM_006920.6(SCN1A):c.1197_1198del (p.Met400fs) rs794726818
NM_006920.6(SCN1A):c.1199T>A (p.Met400Lys) rs794726725
NM_006920.6(SCN1A):c.121A>T (p.Lys41Ter) rs764444350
NM_006920.6(SCN1A):c.1259C>T (p.Ala420Val) rs794726826
NM_006920.6(SCN1A):c.1265T>C (p.Val422Ala) rs121917989
NM_006920.6(SCN1A):c.1301del (p.Leu434fs) rs794726810
NM_006920.6(SCN1A):c.1345G>T (p.Glu449Ter) rs794726807
NM_006920.6(SCN1A):c.1442_1445del (p.Asp481fs) rs794726829
NM_006920.6(SCN1A):c.1516C>T (p.Gln506Ter) rs794726790
NM_006920.6(SCN1A):c.1624C>T (p.Arg542Ter) rs138877187
NM_006920.6(SCN1A):c.1660dup (p.Gln554fs) rs794726717
NM_006920.6(SCN1A):c.1662+1G>T rs794726749
NM_006920.6(SCN1A):c.1662+3A>G rs794726773
NM_006920.6(SCN1A):c.1667del (p.Leu556fs) rs794726704
NM_006920.6(SCN1A):c.1738C>T (p.Arg580Ter) rs794726736
NM_006920.6(SCN1A):c.1804G>T (p.Glu602Ter) rs794726834
NM_006920.6(SCN1A):c.1834C>T (p.Arg612Ter) rs794726778
NM_006920.6(SCN1A):c.1837C>T (p.Arg613Ter) rs398123585
NM_006920.6(SCN1A):c.185del (p.Pro62fs) rs35595680
NM_006920.6(SCN1A):c.1876A>G (p.Ser626Gly) rs121917990
NM_006920.6(SCN1A):c.1970C>T (p.Pro657Leu) rs794726838
NM_006920.6(SCN1A):c.2038A>T (p.Lys680Ter) rs794726747
NM_006920.6(SCN1A):c.2067del (p.Met690fs) rs794726806
NM_006920.6(SCN1A):c.2101C>T (p.Arg701Ter) rs794726730
NM_006920.6(SCN1A):c.2143+3T>A rs794726795
NM_006920.6(SCN1A):c.2180G>A (p.Trp727Ter) rs794726742
NM_006920.6(SCN1A):c.2180G>T (p.Trp727Leu) rs794726742
NM_006920.6(SCN1A):c.2228G>T (p.Trp743Leu) rs794726743
NM_006920.6(SCN1A):c.2266_2269dup (p.Pro757fs) rs794726750
NM_006920.6(SCN1A):c.2270C>T (p.Pro757Leu) rs794726766
NM_006920.6(SCN1A):c.2285_2286insT (p.Ile763fs) rs794726820
NM_006920.6(SCN1A):c.2320A>G (p.Met774Val) rs767045134
NM_006920.6(SCN1A):c.2446T>G (p.Tyr816Asp) rs794726805
NM_006920.6(SCN1A):c.2490_2491del (p.Thr830_Leu831insTer) rs794726738
NM_006920.6(SCN1A):c.2504A>G (p.Glu835Gly) rs794726794
NM_006920.6(SCN1A):c.2551C>T (p.Arg851Ter) rs397514459
NM_006920.6(SCN1A):c.2552G>A (p.Arg851Gln) rs121918785
NM_006920.6(SCN1A):c.2555T>G (p.Leu852Trp) rs794726712
NM_006920.6(SCN1A):c.2556+3A>T rs794726775
NM_006920.6(SCN1A):c.2560C>T (p.Arg854Ter) rs794726697
NM_006920.6(SCN1A):c.2570del (p.Lys857fs) rs794726787
NM_006920.6(SCN1A):c.2582C>A (p.Ser861Tyr) rs794726786
NM_006920.6(SCN1A):c.264+5G>C rs794726762
NM_006920.6(SCN1A):c.2645T>A (p.Leu882Ter) rs794726815
NM_006920.6(SCN1A):c.2657T>C (p.Leu886Ser) rs794726761
NM_006920.6(SCN1A):c.2695C>A (p.Gln899Lys) rs794726721
NM_006920.6(SCN1A):c.269T>C (p.Phe90Ser) rs121918733
NM_006920.6(SCN1A):c.272T>C (p.Ile91Thr) rs121918734
NM_006920.6(SCN1A):c.2747G>T (p.Cys916Phe) rs794726811
NM_006920.6(SCN1A):c.2759G>A (p.Arg920His) rs794726718
NM_006920.6(SCN1A):c.2759G>C (p.Arg920Pro) rs794726718
NM_006920.6(SCN1A):c.2782C>T (p.His928Tyr) rs121918736
NM_006920.6(SCN1A):c.2803C>T (p.Arg935Cys) rs121918775
NM_006920.6(SCN1A):c.2804G>C (p.Arg935Pro) rs121917971
NM_006920.6(SCN1A):c.2821T>G (p.Trp941Gly) rs121918737
NM_006920.6(SCN1A):c.2839_2848del (p.Asp947fs) rs794726808
NM_006920.6(SCN1A):c.2843G>A (p.Cys948Tyr) rs794726716
NM_006920.6(SCN1A):c.2846T>G (p.Met949Arg) rs794726708
NM_006920.6(SCN1A):c.2870G>T (p.Cys957Phe) rs794726823
NM_006920.6(SCN1A):c.2896G>A (p.Val966Met) rs794726828
NM_006920.6(SCN1A):c.289_292del (p.Lys97fs) rs794726796
NM_006920.6(SCN1A):c.2903G>A (p.Gly968Glu) rs794726842
NM_006920.6(SCN1A):c.2913+1G>T rs794726772
NM_006920.6(SCN1A):c.2913+1_2913+2del rs794726714
NM_006920.6(SCN1A):c.2947_2948del (p.Ser983fs) rs794726830
NM_006920.6(SCN1A):c.2952T>G (p.Phe984Leu) rs794726746
NM_006920.6(SCN1A):c.2984del (p.Asp995fs) rs794726813
NM_006920.6(SCN1A):c.301C>T (p.Arg101Trp) rs121917965
NM_006920.6(SCN1A):c.3029_3033del (p.Lys1010fs) rs794726756
NM_006920.6(SCN1A):c.302G>A (p.Arg101Gln) rs121917918
NM_006920.6(SCN1A):c.3073C>T (p.Gln1025Ter) rs542420576
NM_006920.6(SCN1A):c.308G>T (p.Ser103Ile) rs760361423
NM_006920.6(SCN1A):c.323T>C (p.Leu108Pro) rs794726793
NM_006920.6(SCN1A):c.337C>A (p.Pro113Thr) rs794726711
NM_006920.6(SCN1A):c.3406G>T (p.Glu1136Ter) rs794726733
NM_006920.6(SCN1A):c.3422C>A (p.Ser1141Ter) rs794726728
NM_006920.6(SCN1A):c.3444del (p.Ile1148fs) rs794726729
NM_006920.6(SCN1A):c.3454del (p.Pro1151_Val1152insTer) rs794726774
NM_006920.6(SCN1A):c.3517+1G>A rs794726836
NM_006920.6(SCN1A):c.3582G>A (p.Trp1194Ter) rs794726720
NM_006920.6(SCN1A):c.3596C>A (p.Thr1199Lys) rs121918738
NM_006920.6(SCN1A):c.3604C>T (p.Arg1202Ter) rs794726710
NM_006920.6(SCN1A):c.3628G>C (p.Glu1210Gln) rs794726854
NM_006920.6(SCN1A):c.3672+1G>A rs794726744
NM_006920.6(SCN1A):c.3672+2T>A rs794726735
NM_006920.6(SCN1A):c.3673G>C (p.Ala1225Pro) rs794726770
NM_006920.6(SCN1A):c.3693_3694insAT (p.Asp1232fs) rs794726706
NM_006920.6(SCN1A):c.3697C>T (p.Gln1233Ter) rs794726727
NM_006920.6(SCN1A):c.3700C>T (p.Arg1234Ter) rs727504136
NM_006920.6(SCN1A):c.3724G>T (p.Glu1242Ter) rs794726817
NM_006920.6(SCN1A):c.3730G>C (p.Ala1244Pro) rs777939538
NM_006920.6(SCN1A):c.3745A>C (p.Thr1249Pro) rs121918739
NM_006920.6(SCN1A):c.3769_3779del (p.Leu1257fs) rs794726709
NM_006920.6(SCN1A):c.3785C>T (p.Ala1262Val) rs794726841
NM_006920.6(SCN1A):c.3788A>C (p.Tyr1263Ser) rs794726852
NM_006920.6(SCN1A):c.3795T>A (p.Tyr1265Ter) rs794726731
NM_006920.6(SCN1A):c.380A>T (p.His127Leu) rs794726831
NM_006920.6(SCN1A):c.3825G>A (p.Trp1275Ter) rs794726853
NM_006920.6(SCN1A):c.3827T>C (p.Leu1276Pro) rs121918740
NM_006920.6(SCN1A):c.383+1A>G rs794726803
NM_006920.6(SCN1A):c.384-1C>G rs794726764
NM_006920.6(SCN1A):c.3846+1G>T rs794726700
NM_006920.6(SCN1A):c.3847-2A>G rs794726816
NM_006920.6(SCN1A):c.3866C>G (p.Thr1289Arg) rs146878122
NM_006920.6(SCN1A):c.3935_3936CT[3] (p.Leu1313_Arg1314insTer) rs794726723
NM_006920.6(SCN1A):c.3970G>A (p.Val1324Met) rs121917960
NM_006920.6(SCN1A):c.3983C>T (p.Ala1328Val) rs794726789
NM_006920.6(SCN1A):c.4011G>A (p.Met1337Ile) rs794726822
NM_006920.6(SCN1A):c.4022T>C (p.Leu1341Pro) rs794726821
NM_006920.6(SCN1A):c.4053C>G (p.Ser1351Arg) rs794726779
NM_006920.6(SCN1A):c.4055T>A (p.Ile1352Asn) rs794726707
NM_006920.6(SCN1A):c.4135G>A (p.Val1379Met) rs121917986
NM_006920.6(SCN1A):c.4135G>C (p.Val1379Leu) rs121917986
NM_006920.6(SCN1A):c.4155C>A (p.Cys1385Ter) rs794726745
NM_006920.6(SCN1A):c.4190G>A (p.Trp1397Ter) rs794726784
NM_006920.6(SCN1A):c.4211_4212del (p.Asn1403_Phe1404insTer) rs794726705
NM_006920.6(SCN1A):c.4265G>A (p.Gly1422Glu) rs121918741
NM_006920.6(SCN1A):c.4269G>A (p.Trp1423Ter) rs794726699
NM_006920.6(SCN1A):c.4305+4A>C rs794726734
NM_006920.6(SCN1A):c.4318C>A (p.Pro1440Thr) rs794726696
NM_006920.6(SCN1A):c.433A>G (p.Met145Val) rs794726849
NM_006920.6(SCN1A):c.4379C>T (p.Ser1460Phe) rs794726809
NM_006920.6(SCN1A):c.4514C>G (p.Ser1505Trp) rs139300715
NM_006920.6(SCN1A):c.4516A>T (p.Lys1506Ter) rs794726835
NM_006920.6(SCN1A):c.4521del (p.Lys1507fs) rs794726825
NM_006920.6(SCN1A):c.4540C>T (p.Arg1514Ter) rs794726752
NM_006920.6(SCN1A):c.4578_4612dup (p.Ile1538delinsThrTer) rs794726757
NM_006920.6(SCN1A):c.4724G>A (p.Gly1575Glu) rs121918742
NM_006920.6(SCN1A):c.473+1G>C rs794726840
NM_006920.6(SCN1A):c.4733T>G (p.Val1578Gly) rs764037830
NM_006920.6(SCN1A):c.474_602del (p.Thr160_Tyr202del) rs1553551314
NM_006920.6(SCN1A):c.4778G>A (p.Trp1593Ter) rs794726800
NM_006920.6(SCN1A):c.4789G>T (p.Asp1597Tyr) rs121917915
NM_006920.6(SCN1A):c.4790del (p.Asp1597fs) rs794726785
NM_006920.6(SCN1A):c.4794_4795TG[3] (p.Val1600fs) rs794726850
NM_006920.6(SCN1A):c.4846_4850dup (p.Tyr1617Ter) rs794726701
NM_006920.6(SCN1A):c.4873C>T (p.Arg1625Ter) rs199727342
NM_006920.6(SCN1A):c.4900C>T (p.Arg1634Ter) rs794726759
NM_006920.6(SCN1A):c.4901G>C (p.Arg1634Pro) rs121917976
NM_006920.6(SCN1A):c.4940C>T (p.Thr1647Met) rs121917922
NM_006920.6(SCN1A):c.4952C>T (p.Ala1651Val) rs794726839
NM_006920.6(SCN1A):c.4960_4963dup (p.Ser1655fs) rs794726819
NM_006920.6(SCN1A):c.4964C>T (p.Ser1655Phe) rs794726760
NM_006920.6(SCN1A):c.4970C>G (p.Pro1657Arg) rs794726698
NM_006920.6(SCN1A):c.4970del (p.Pro1657fs) rs794726758
NM_006920.6(SCN1A):c.4977_4980del (p.Phe1660fs) rs794726754
NM_006920.6(SCN1A):c.4981A>C (p.Asn1661His) rs794726740
NM_006920.6(SCN1A):c.5030G>T (p.Gly1677Val) rs794726851
NM_006920.6(SCN1A):c.5049T>G (p.Tyr1683Ter) rs794726748
NM_006920.6(SCN1A):c.5073T>A (p.Asp1691Glu) rs794726804
NM_006920.6(SCN1A):c.5075A>T (p.Asp1692Val) rs794726802
NM_006920.6(SCN1A):c.5189G>A (p.Cys1730Tyr) rs794726763
NM_006920.6(SCN1A):c.5217_5218insGG (p.Ser1740fs) rs794726702
NM_006920.6(SCN1A):c.5217_5219del (p.Ser1739_Ser1740delinsArg) rs794726703
NM_006920.6(SCN1A):c.5231A>G (p.Asp1744Gly) rs794726722
NM_006920.6(SCN1A):c.5251_5258dup (p.Phe1753fs) rs794726814
NM_006920.6(SCN1A):c.5264_5265del (p.Phe1755fs) rs794726832
NM_006920.6(SCN1A):c.5301del (p.Asn1768fs) rs794726783
NM_006920.6(SCN1A):c.530G>T (p.Gly177Val) rs121918770
NM_006920.6(SCN1A):c.5313C>G (p.Ile1771Met) rs121918763
NM_006920.6(SCN1A):c.5314G>A (p.Ala1772Thr) rs121917980
NM_006920.6(SCN1A):c.5315C>T (p.Ala1772Val) rs121917921
NM_006920.6(SCN1A):c.5316_5319dup (p.Ile1774fs) rs794726741
NM_006920.6(SCN1A):c.5371G>T (p.Glu1791Ter) rs794726780
NM_006920.6(SCN1A):c.5428C>T (p.Gln1810Ter) rs794726781
NM_006920.6(SCN1A):c.5437G>T (p.Glu1813Ter) rs794726769
NM_006920.6(SCN1A):c.5482C>G (p.Leu1828Val) rs794726801
NM_006920.6(SCN1A):c.5499_5502AAAC[1] (p.Lys1835fs) rs794726726
NM_006920.6(SCN1A):c.5503A>T (p.Lys1835Ter) rs372098964
NM_006920.6(SCN1A):c.5522T>C (p.Met1841Thr) rs121918783
NM_006920.6(SCN1A):c.5623C>T (p.Arg1875Ter) rs779614747
NM_006920.6(SCN1A):c.5629C>T (p.Gln1877Ter) rs794726845
NM_006920.6(SCN1A):c.5641C>T (p.Arg1881Ter) rs794726739
NM_006920.6(SCN1A):c.568T>C (p.Trp190Arg) rs121918773
NM_006920.6(SCN1A):c.5747G>C (p.Arg1916Thr) rs794726737
NM_006920.6(SCN1A):c.602+1G>T rs794726827
NM_006920.6(SCN1A):c.602+3A>C rs794726833
NM_006920.6(SCN1A):c.659_662del (p.Val220fs) rs794726724
NM_006920.6(SCN1A):c.664C>T (p.Arg222Ter) rs121918624
NM_006920.6(SCN1A):c.675G>C (p.Lys225Asn) rs794726719
NM_006920.6(SCN1A):c.680T>G (p.Ile227Ser) rs121917937
NM_006920.6(SCN1A):c.694+5G>C rs727504142
NM_006920.6(SCN1A):c.70G>A (p.Ala24Thr) rs794726848
NM_006920.6(SCN1A):c.715G>A (p.Ala239Thr) rs121917985
NM_006920.6(SCN1A):c.728C>A (p.Ser243Tyr) rs794726755
NM_006920.6(SCN1A):c.747T>G (p.Asp249Glu) rs773407463
NM_006920.6(SCN1A):c.751del (p.Val250_Met251insTer) rs794726751
NM_006920.6(SCN1A):c.769T>C (p.Cys257Arg) rs794726771
NM_006920.6(SCN1A):c.777C>A (p.Ser259Arg) rs121918735
NM_006920.6(SCN1A):c.825_826insGTATA (p.Lys276delinsValTer) rs794726812
NM_006920.6(SCN1A):c.826A>C (p.Lys276Gln) rs794726847
NM_006920.6(SCN1A):c.838T>C (p.Trp280Arg) rs121917938
NM_006920.6(SCN1A):c.896_905del (p.Asn299fs) rs794726788
NM_006920.6(SCN1A):c.930_931dup (p.Glu311fs) rs794726846
NM_006920.6(SCN1A):c.964+14T>G rs794726837
NM_006920.6(SCN1A):c.965-1G>A rs794726824

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