ClinVar Miner

List of variants in gene combination LOC102724058, SCN1A reported as not provided for Severe myoclonic epilepsy in infancy

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Total variants: 78
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HGVS dbSNP
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.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.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.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.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.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.5693C>T (p.Thr1898Ile) rs121918793
NM_006920.6(SCN1A):c.5732T>C (p.Ile1911Thr) rs121917981

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