ClinVar Miner

List of variants studied for Severe myoclonic epilepsy in infancy by UniProtKB/Swiss-Prot

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ClinVar version:
Total variants: 150
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HGVS dbSNP
NM_006920.6(SCN1A):c.1028G>A (p.Gly343Asp) rs121918753
NM_006920.6(SCN1A):c.1066A>G (p.Arg356Gly) rs121917920
NM_006920.6(SCN1A):c.1072C>A (p.Pro358Thr) rs121917923
NM_006920.6(SCN1A):c.1098T>A (p.Asp366Glu) rs121917958
NM_006920.6(SCN1A):c.1149C>G (p.Phe383Leu) rs121917939
NM_006920.6(SCN1A):c.1177C>A (p.Arg393Ser) rs121917929
NM_006920.6(SCN1A):c.1177C>T (p.Arg393Cys) rs121917929
NM_006920.6(SCN1A):c.1178G>A (p.Arg393His) rs121917927
NM_006920.6(SCN1A):c.1207T>C (p.Phe403Leu) rs121917966
NM_006920.6(SCN1A):c.1216G>T (p.Val406Phe) rs121918768
NM_006920.6(SCN1A):c.1237T>A (p.Tyr413Asn) rs121917967
NM_006920.6(SCN1A):c.1276T>A (p.Tyr426Asn) rs121917940
NM_006920.6(SCN1A):c.1811G>A (p.Arg604His) rs121918769
NM_006920.6(SCN1A):c.187T>C (p.Phe63Leu) rs121917907
NM_006920.6(SCN1A):c.2315T>C (p.Leu772Pro) rs121917968
NM_006920.6(SCN1A):c.234G>T (p.Glu78Asp) rs121917933
NM_006920.6(SCN1A):c.235G>C (p.Asp79His) rs121917982
NM_006920.6(SCN1A):c.2389A>T (p.Thr797Ser) rs121918758
NM_006920.6(SCN1A):c.2402C>G (p.Thr801Arg) rs121917941
NM_006920.6(SCN1A):c.2503G>A (p.Glu835Lys) rs121917942
NM_006920.6(SCN1A):c.251A>G (p.Tyr84Cys) rs121917964
NM_006920.6(SCN1A):c.2552G>A (p.Arg851Gln) rs121918785
NM_006920.6(SCN1A):c.2591C>A (p.Thr864Lys) rs121918623
NM_006920.6(SCN1A):c.2672T>G (p.Phe891Cys) rs121918787
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.2758C>T (p.Arg920Cys) rs121918788
NM_006920.6(SCN1A):c.2769G>C (p.Met923Ile) rs121918774
NM_006920.6(SCN1A):c.2782C>T (p.His928Tyr) rs121918736
NM_006920.6(SCN1A):c.2784C>G (p.His928Gln) rs121918795
NM_006920.6(SCN1A):c.2792T>C (p.Leu931Pro) rs121917943
NM_006920.6(SCN1A):c.2798T>C (p.Val933Ala) rs121917969
NM_006920.6(SCN1A):c.2800T>C (p.Phe934Leu) rs121917970
NM_006920.6(SCN1A):c.2803C>A (p.Arg935Ser) rs121918775
NM_006920.6(SCN1A):c.2803C>T (p.Arg935Cys) rs121918775
NM_006920.6(SCN1A):c.2804G>A (p.Arg935His) rs121917971
NM_006920.6(SCN1A):c.2816G>A (p.Gly939Glu) rs121917972
NM_006920.6(SCN1A):c.2821T>G (p.Trp941Gly) rs121918737
NM_006920.6(SCN1A):c.2827G>A (p.Glu943Lys) rs121918786
NM_006920.6(SCN1A):c.2837G>T (p.Trp946Leu) rs121917917
NM_006920.6(SCN1A):c.2842T>C (p.Cys948Arg) rs121918796
NM_006920.6(SCN1A):c.2845A>G (p.Met949Val) rs121918750
NM_006920.6(SCN1A):c.2902G>A (p.Gly968Arg) rs121918754
NM_006920.6(SCN1A):c.2915T>C (p.Val972Ala) rs121918756
NM_006920.6(SCN1A):c.2921A>T (p.Asn974Ile) rs121918747
NM_006920.6(SCN1A):c.2923C>T (p.Leu975Phe) rs121918625
NM_006920.6(SCN1A):c.2999A>T (p.Asn1000Ile) rs121918759
NM_006920.6(SCN1A):c.301C>T (p.Arg101Trp) rs121917965
NM_006920.6(SCN1A):c.302G>A (p.Arg101Gln) rs121917918
NM_006920.6(SCN1A):c.307A>G (p.Ser103Gly) rs121918743
NM_006920.6(SCN1A):c.335C>T (p.Thr112Ile) rs121918745
NM_006920.6(SCN1A):c.354G>C (p.Arg118Ser) rs121917959
NM_006920.6(SCN1A):c.3587T>C (p.Leu1196Pro) rs121917963
NM_006920.6(SCN1A):c.3596C>A (p.Thr1199Lys) rs121918738
NM_006920.6(SCN1A):c.3659G>C (p.Ser1220Thr) rs121918800
NM_006920.6(SCN1A):c.3660T>A (p.Ser1220Arg) rs121918746
NM_006920.6(SCN1A):c.3664G>C (p.Gly1222Arg) rs121917911
NM_006920.6(SCN1A):c.3681A>C (p.Glu1227Asp) rs121917973
NM_006920.6(SCN1A):c.3701G>A (p.Arg1234Gln) rs121917912
NM_006920.6(SCN1A):c.371T>A (p.Ile124Asn) rs121918761
NM_006920.6(SCN1A):c.3745A>C (p.Thr1249Pro) rs121918739
NM_006920.6(SCN1A):c.3756C>G (p.Phe1252Leu) rs121918752
NM_006920.6(SCN1A):c.3761T>C (p.Leu1254Pro) rs121918794
NM_006920.6(SCN1A):c.3827T>C (p.Leu1276Pro) rs121918740
NM_006920.6(SCN1A):c.3891A>T (p.Glu1297Asp) rs121917910
NM_006920.6(SCN1A):c.3943G>C (p.Ala1315Pro) rs121918803
NM_006920.6(SCN1A):c.3970G>A (p.Val1324Met) rs121917960
NM_006920.6(SCN1A):c.4031T>C (p.Leu1344Pro) rs121918776
NM_006920.6(SCN1A):c.4040G>C (p.Trp1347Ser) rs121917961
NM_006920.6(SCN1A):c.4068T>A (p.Asn1356Lys) rs121918760
NM_006920.6(SCN1A):c.4135G>A (p.Val1379Met) rs121917986
NM_006920.6(SCN1A):c.4153T>G (p.Cys1385Gly) rs121917987
NM_006920.6(SCN1A):c.4207A>T (p.Asn1403Tyr) rs121917925
NM_006920.6(SCN1A):c.4232A>G (p.Tyr1411Cys) rs121917913
NM_006920.6(SCN1A):c.4244T>G (p.Leu1415Arg) rs121917944
NM_006920.6(SCN1A):c.4264G>A (p.Gly1422Arg) rs121917908
NM_006920.6(SCN1A):c.4265G>A (p.Gly1422Glu) rs121918741
NM_006920.6(SCN1A):c.4267T>C (p.Trp1423Arg) rs121918789
NM_006920.6(SCN1A):c.4288G>C (p.Ala1430Pro) rs121917974
NM_006920.6(SCN1A):c.4315C>A (p.Gln1439Lys) rs121918806
NM_006920.6(SCN1A):c.4316A>G (p.Gln1439Arg) rs121918790
NM_006920.6(SCN1A):c.4319C>T (p.Pro1440Leu) rs121917945
NM_006920.6(SCN1A):c.4348C>A (p.Leu1450Ile) rs121918772
NM_006920.6(SCN1A):c.4352A>G (p.Tyr1451Cys) rs121917962
NM_006920.6(SCN1A):c.4355T>C (p.Phe1452Ser) rs121917946
NM_006920.6(SCN1A):c.4375G>T (p.Gly1459Trp) rs121917924
NM_006920.6(SCN1A):c.4391T>C (p.Leu1464Ser) rs121917947
NM_006920.6(SCN1A):c.4508T>C (p.Leu1503Ser) rs121918764
NM_006920.6(SCN1A):c.4600A>G (p.Ile1534Val) rs121917975
NM_006920.6(SCN1A):c.4724G>A (p.Gly1575Glu) rs121918742
NM_006920.6(SCN1A):c.4729T>C (p.Cys1577Arg) rs121917919
NM_006920.6(SCN1A):c.4789G>T (p.Asp1597Tyr) rs121917915
NM_006920.6(SCN1A):c.4798G>T (p.Val1600Phe) rs121918630
NM_006920.6(SCN1A):c.4801G>A (p.Val1601Ile) rs121918808
NM_006920.6(SCN1A):c.484A>C (p.Thr162Pro) rs121917934
NM_006920.6(SCN1A):c.4855G>A (p.Val1619Met) rs121917914
NM_006920.6(SCN1A):c.4861C>T (p.Pro1621Ser) rs121918755
NM_006920.6(SCN1A):c.4901G>A (p.Arg1634Gln) rs121917976
NM_006920.6(SCN1A):c.4909C>T (p.Arg1637Cys) rs121918791
NM_006920.6(SCN1A):c.4910G>A (p.Arg1637His) rs121918622
NM_006920.6(SCN1A):c.4940C>G (p.Thr1647Arg) rs121917922
NM_006920.6(SCN1A):c.4940C>T (p.Thr1647Met) rs121917922
NM_006920.6(SCN1A):c.4949T>C (p.Phe1650Ser) rs121918797
NM_006920.6(SCN1A):c.4958T>A (p.Met1653Lys) rs121918765
NM_006920.6(SCN1A):c.4969C>G (p.Pro1657Ala) rs121917948
NM_006920.6(SCN1A):c.4987G>C (p.Gly1663Arg) rs121918792
NM_006920.6(SCN1A):c.5021C>A (p.Ala1674Asp) rs121918744
NM_006920.6(SCN1A):c.5042T>C (p.Phe1681Ser) rs121918778
NM_006920.6(SCN1A):c.5048A>G (p.Tyr1683Cys) rs121918777
NM_006920.6(SCN1A):c.5086T>G (p.Phe1696Val) rs121917977
NM_006920.6(SCN1A):c.5093C>T (p.Thr1698Ile) rs121918629
NM_006920.6(SCN1A):c.5105G>A (p.Ser1702Asn) rs121918816
NM_006920.6(SCN1A):c.5108T>G (p.Met1703Arg) rs121917949
NM_006920.6(SCN1A):c.5113T>C (p.Cys1705Arg) rs121917926
NM_006920.6(SCN1A):c.5129C>G (p.Thr1710Arg) rs121917978
NM_006920.6(SCN1A):c.512T>A (p.Ile171Lys) rs121918766
NM_006920.6(SCN1A):c.5143T>C (p.Trp1715Arg) rs121917979
NM_006920.6(SCN1A):c.5213G>A (p.Gly1738Glu) rs121918798
NM_006920.6(SCN1A):c.5233T>G (p.Cys1745Gly) rs121918809
NM_006920.6(SCN1A):c.523G>A (p.Ala175Thr) rs121918767
NM_006920.6(SCN1A):c.5252G>A (p.Gly1751Glu) rs121917950
NM_006920.6(SCN1A):c.5285C>T (p.Ser1762Phe) rs121917951
NM_006920.6(SCN1A):c.5306T>C (p.Met1769Thr) rs121917952
NM_006920.6(SCN1A):c.5309A>G (p.Tyr1770Cys) rs121918779
NM_006920.6(SCN1A):c.530G>A (p.Gly177Glu) 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.5326G>A (p.Glu1776Lys) rs121917916
NM_006920.6(SCN1A):c.5389T>C (p.Phe1797Leu) rs121918757
NM_006920.6(SCN1A):c.5401T>G (p.Trp1801Gly) rs121918751
NM_006920.6(SCN1A):c.5459T>C (p.Phe1820Ser) rs121918748
NM_006920.6(SCN1A):c.5610G>C (p.Glu1870Asp) rs121918804
NM_006920.6(SCN1A):c.568T>C (p.Trp190Arg) rs121918773
NM_006920.6(SCN1A):c.5693C>T (p.Thr1898Ile) rs121918793
NM_006920.6(SCN1A):c.571A>T (p.Asn191Tyr) rs121918762
NM_006920.6(SCN1A):c.5732T>C (p.Ile1911Thr) rs121917981
NM_006920.6(SCN1A):c.580G>A (p.Asp194Asn) rs121917935
NM_006920.6(SCN1A):c.596C>G (p.Thr199Arg) rs121917983
NM_006920.6(SCN1A):c.650C>A (p.Thr217Lys) rs121917936
NM_006920.6(SCN1A):c.677C>T (p.Thr226Met) rs121917984
NM_006920.6(SCN1A):c.680T>G (p.Ile227Ser) rs121917937
NM_006920.6(SCN1A):c.715G>A (p.Ala239Thr) rs121917985
NM_006920.6(SCN1A):c.716C>T (p.Ala239Val) rs121917909
NM_006920.6(SCN1A):c.755T>A (p.Ile252Asn) rs121918780
NM_006920.6(SCN1A):c.777C>A (p.Ser259Arg) rs121918735
NM_006920.6(SCN1A):c.793G>T (p.Gly265Trp) rs121918749
NM_006920.6(SCN1A):c.838T>C (p.Trp280Arg) rs121917938
NM_006920.6(SCN1A):c.890C>T (p.Thr297Ile) rs121918771
NM_006920.6(SCN1A):c.965G>T (p.Arg322Ile) rs121917928

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