ClinVar Miner

List of variants in gene combination LOC102724058, SCN1A studied for Severe myoclonic epilepsy in infancy

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Total variants: 187
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HGVS dbSNP
NC_000002.12:g.(?_165991194)_(166073671_?)dup
NM_001165963.1(SCN1A):c.3106C>T (p.Gln1036Ter) rs542420576
NM_001165963.1(SCN1A):c.3306C>A (p.Tyr1102Ter) rs863225032
NM_001165963.1(SCN1A):c.3439G>T (p.Glu1147Ter) rs794726733
NM_001165963.1(SCN1A):c.3455C>A (p.Ser1152Ter) rs794726728
NM_001165963.1(SCN1A):c.3477delC (p.Ile1159Metfs) rs794726729
NM_001165963.1(SCN1A):c.3487delG (p.Val1163Terfs) rs794726774
NM_001165963.1(SCN1A):c.3550+1G>A rs794726836
NM_001165963.1(SCN1A):c.3615G>A (p.Trp1205Ter) rs794726720
NM_001165963.1(SCN1A):c.3637C>T (p.Arg1213Ter) rs794726710
NM_001165963.1(SCN1A):c.3657G>A (p.Trp1219Ter) rs863225033
NM_001165963.1(SCN1A):c.3661G>C (p.Glu1221Gln) rs794726854
NM_001165963.1(SCN1A):c.3690dupT (p.Ser1231Terfs) rs1057519534
NM_001165963.1(SCN1A):c.3705+1G>A rs794726744
NM_001165963.1(SCN1A):c.3705+2T>A rs794726735
NM_001165963.1(SCN1A):c.3706G>C (p.Ala1236Pro) rs794726770
NM_001165963.1(SCN1A):c.3726_3727insAT (p.Asp1243Metfs) rs794726706
NM_001165963.1(SCN1A):c.3730C>T (p.Gln1244Ter) rs794726727
NM_001165963.1(SCN1A):c.3733C>T (p.Arg1245Ter) rs727504136
NM_001165963.1(SCN1A):c.3757G>T (p.Glu1253Ter) rs794726817
NM_001165963.1(SCN1A):c.3763G>C (p.Ala1255Pro) rs777939538
NM_001165963.1(SCN1A):c.3802_3812delCTTCTAAAATG (p.Leu1268Glyfs) rs794726709
NM_001165963.1(SCN1A):c.3818C>T (p.Ala1273Val) rs794726841
NM_001165963.1(SCN1A):c.3821A>C (p.Tyr1274Ser) rs794726852
NM_001165963.1(SCN1A):c.3828T>A (p.Tyr1276Ter) rs794726731
NM_001165963.1(SCN1A):c.3852delG (p.Trp1284Cysfs) rs863225034
NM_001165963.1(SCN1A):c.3858G>A (p.Trp1286Ter) rs794726853
NM_001165963.1(SCN1A):c.3879+1G>T rs794726700
NM_001165963.1(SCN1A):c.3880-2A>G rs794726816
NM_001165963.1(SCN1A):c.3899C>G (p.Thr1300Arg) rs146878122
NM_001165963.1(SCN1A):c.3970_3971dupCT (p.Arg1325Terfs) rs794726723
NM_001165963.1(SCN1A):c.3985C>T (p.Arg1329Ter) rs796053004
NM_001165963.1(SCN1A):c.4016C>T (p.Ala1339Val) rs794726789
NM_001165963.1(SCN1A):c.4044G>A (p.Met1348Ile) rs794726822
NM_001165963.1(SCN1A):c.4055T>C (p.Leu1352Pro) rs794726821
NM_001165963.1(SCN1A):c.4086C>G (p.Ser1362Arg) rs794726779
NM_001165963.1(SCN1A):c.4088T>A (p.Ile1363Asn) rs794726707
NM_001165963.1(SCN1A):c.4168G>C (p.Val1390Leu) rs121917986
NM_001165963.1(SCN1A):c.4188C>A (p.Cys1396Ter) rs794726745
NM_001165963.1(SCN1A):c.4219C>T (p.Arg1407Ter) rs398123593
NM_001165963.1(SCN1A):c.4223G>A (p.Trp1408Ter) rs794726784
NM_001165963.1(SCN1A):c.4244_4245delTT (p.Phe1415Terfs) rs794726705
NM_001165963.1(SCN1A):c.4266T>A (p.Tyr1422Ter) rs863225035
NM_001165963.1(SCN1A):c.4284+2T>C rs398123595
NM_001165963.1(SCN1A):c.4302G>A (p.Trp1434Ter) rs794726699
NM_001165963.1(SCN1A):c.4338+4A>C rs794726734
NM_001165963.1(SCN1A):c.4351C>A (p.Pro1451Thr) rs794726696
NM_001165963.1(SCN1A):c.4412C>T (p.Ser1471Phe) rs794726809
NM_001165963.1(SCN1A):c.4476+1A>G rs796053014
NM_001165963.1(SCN1A):c.4477-2A>G rs863225036
NM_001165963.1(SCN1A):c.4547C>A (p.Ser1516Ter) rs139300715
NM_001165963.1(SCN1A):c.4547C>G (p.Ser1516Trp) rs139300715
NM_001165963.1(SCN1A):c.4547C>T (p.Ser1516Leu) rs139300715
NM_001165963.1(SCN1A):c.4549A>T (p.Lys1517Ter) rs794726835
NM_001165963.1(SCN1A):c.4554delA (p.Lys1518Asnfs) rs794726825
NM_001165963.1(SCN1A):c.4573C>T (p.Arg1525Ter) rs794726752
NM_001165963.1(SCN1A):c.4611_4645dup35 (p.Ile1549Thrfs) rs794726757
NM_001165963.1(SCN1A):c.4766T>G (p.Val1589Gly) rs764037830
NM_001165963.1(SCN1A):c.4811G>A (p.Trp1604Ter) rs794726800
NM_001165963.1(SCN1A):c.4814A>T (p.Asn1605Ile) rs1057519533
NM_001165963.1(SCN1A):c.4823delA (p.Asp1608Valfs) rs794726785
NM_001165963.1(SCN1A):c.4829_4830dupTG (p.Val1611Trpfs) rs794726850
NM_001165963.1(SCN1A):c.4879_4883dupAAGTA (p.Tyr1628Terfs) rs794726701
NM_001165963.1(SCN1A):c.4906C>T (p.Arg1636Ter) rs199727342
NM_001165963.1(SCN1A):c.4933C>T (p.Arg1645Ter) rs794726759
NM_001165963.1(SCN1A):c.4934G>C (p.Arg1645Pro) rs121917976
NM_001165963.1(SCN1A):c.4985C>T (p.Ala1662Val) rs794726839
NM_001165963.1(SCN1A):c.4993_4996dupATGT (p.Ser1666Tyrfs) rs794726819
NM_001165963.1(SCN1A):c.4997C>T (p.Ser1666Phe) rs794726760
NM_001165963.1(SCN1A):c.5003C>G (p.Pro1668Arg) rs794726698
NM_001165963.1(SCN1A):c.5003delC (p.Pro1668Leufs) rs794726758
NM_001165963.1(SCN1A):c.5010_5013delGTTT (p.Phe1671Thrfs) rs794726754
NM_001165963.1(SCN1A):c.5014A>C (p.Asn1672His) rs794726740
NM_001165963.1(SCN1A):c.5063G>T (p.Gly1688Val) rs794726851
NM_001165963.1(SCN1A):c.5082T>G (p.Tyr1694Ter) rs794726748
NM_001165963.1(SCN1A):c.5106T>A (p.Asp1702Glu) rs794726804
NM_001165963.1(SCN1A):c.5108A>T (p.Asp1703Val) rs794726802
NM_001165963.1(SCN1A):c.5222G>A (p.Cys1741Tyr) rs794726763
NM_001165963.1(SCN1A):c.5250_5251insGG (p.Ser1751Glyfs) rs794726702
NM_001165963.1(SCN1A):c.5250_5252delCTC (p.Ser1750_Ser1751delinsArg) rs794726703
NM_001165963.1(SCN1A):c.5264A>G (p.Asp1755Gly) rs794726722
NM_001165963.1(SCN1A):c.5284_5291dupGGAATTTT (p.Phe1764Leufs) rs794726814
NM_001165963.1(SCN1A):c.5297_5298delTT (p.Phe1766Cysfs) rs794726832
NM_001165963.1(SCN1A):c.5334delG (p.Asn1779Thrfs) rs794726783
NM_001165963.1(SCN1A):c.5349_5352dupGGTC (p.Ile1785Glyfs) rs794726741
NM_001165963.1(SCN1A):c.5351T>C (p.Val1784Ala) rs1057518671
NM_001165963.1(SCN1A):c.5404G>T (p.Glu1802Ter) rs794726780
NM_001165963.1(SCN1A):c.5436G>A (p.Trp1812Ter) rs863225037
NM_001165963.1(SCN1A):c.5461C>T (p.Gln1821Ter) rs794726781
NM_001165963.1(SCN1A):c.5470G>T (p.Glu1824Ter) rs794726769
NM_001165963.1(SCN1A):c.5515C>G (p.Leu1839Val) rs794726801
NM_001165963.1(SCN1A):c.5536A>T (p.Lys1846Ter) rs372098964
NM_001165963.1(SCN1A):c.5536_5539delAAAC (p.Lys1846Serfs) rs794726726
NM_001165963.1(SCN1A):c.5656C>T (p.Arg1886Ter) rs779614747
NM_001165963.1(SCN1A):c.5662C>T (p.Gln1888Ter) rs794726845
NM_001165963.1(SCN1A):c.5674C>T (p.Arg1892Ter) rs794726739
NM_001165963.1(SCN1A):c.5780G>C (p.Arg1927Thr) rs794726737
NM_001165963.2(SCN1A):c.3512C>T (p.Pro1171Leu)
NM_001165963.2(SCN1A):c.4040T>A (p.Ile1347Asn) rs1553525325
NM_001165963.2(SCN1A):c.5351T>A (p.Val1784Asp) rs1057518671
NM_001165963.2(SCN1A):c.5501C>T (p.Ala1834Val) rs780809852
NM_006920.4(SCN1A):c.3587T>C (p.Leu1196Pro) rs121917963
NM_006920.4(SCN1A):c.3596C>A (p.Thr1199Lys) rs121918738
NM_006920.4(SCN1A):c.3613G>A (p.Glu1205Lys) rs398123590
NM_006920.4(SCN1A):c.3659G>C (p.Ser1220Thr) rs121918800
NM_006920.4(SCN1A):c.3660T>A (p.Ser1220Arg) rs121918746
NM_006920.4(SCN1A):c.3664G>C (p.Gly1222Arg) rs121917911
NM_006920.4(SCN1A):c.3671delT (p.Leu1224Argfs) rs869312670
NM_006920.4(SCN1A):c.3681A>C (p.Glu1227Asp) rs121917973
NM_006920.4(SCN1A):c.3690T>C (p.Tyr1230=) rs36031496
NM_006920.4(SCN1A):c.3701G>A (p.Arg1234Gln) rs121917912
NM_006920.4(SCN1A):c.3745A>C (p.Thr1249Pro) rs121918739
NM_006920.4(SCN1A):c.3756C>G (p.Phe1252Leu) rs121918752
NM_006920.4(SCN1A):c.3761T>C (p.Leu1254Pro) rs121918794
NM_006920.4(SCN1A):c.3827T>C (p.Leu1276Pro) rs121918740
NM_006920.4(SCN1A):c.3891A>T (p.Glu1297Asp) rs121917910
NM_006920.4(SCN1A):c.3943G>C (p.Ala1315Pro) rs121918803
NM_006920.4(SCN1A):c.3969+2451G>C rs869312684
NM_006920.4(SCN1A):c.3970G>A (p.Val1324Met) rs121917960
NM_006920.4(SCN1A):c.4031T>C (p.Leu1344Pro) rs121918776
NM_006920.4(SCN1A):c.4040G>C (p.Trp1347Ser) rs121917961
NM_006920.4(SCN1A):c.4068T>A (p.Asn1356Lys) rs121918760
NM_006920.4(SCN1A):c.4135G>A (p.Val1379Met) rs121917986
NM_006920.4(SCN1A):c.4153T>G (p.Cys1385Gly) rs121917987
NM_006920.4(SCN1A):c.4207A>T (p.Asn1403Tyr) rs121917925
NM_006920.4(SCN1A):c.4232A>G (p.Tyr1411Cys) rs121917913
NM_006920.4(SCN1A):c.4244T>G (p.Leu1415Arg) rs121917944
NM_006920.4(SCN1A):c.4264G>A (p.Gly1422Arg) rs121917908
NM_006920.4(SCN1A):c.4265G>A (p.Gly1422Glu) rs121918741
NM_006920.4(SCN1A):c.4267T>C (p.Trp1423Arg) rs121918789
NM_006920.4(SCN1A):c.4288G>C (p.Ala1430Pro) rs121917974
NM_006920.4(SCN1A):c.4315C>A (p.Gln1439Lys) rs121918806
NM_006920.4(SCN1A):c.4316A>G (p.Gln1439Arg) rs121918790
NM_006920.4(SCN1A):c.4319C>T (p.Pro1440Leu) rs121917945
NM_006920.4(SCN1A):c.4348C>A (p.Leu1450Ile) rs121918772
NM_006920.4(SCN1A):c.4352A>G (p.Tyr1451Cys) rs121917962
NM_006920.4(SCN1A):c.4355T>C (p.Phe1452Ser) rs121917946
NM_006920.4(SCN1A):c.4375G>T (p.Gly1459Trp) rs121917924
NM_006920.4(SCN1A):c.4391T>C (p.Leu1464Ser) rs121917947
NM_006920.4(SCN1A):c.4508T>C (p.Leu1503Ser) rs121918764
NM_006920.4(SCN1A):c.4600A>G (p.Ile1534Val) rs121917975
NM_006920.4(SCN1A):c.4724G>A (p.Gly1575Glu) rs121918742
NM_006920.4(SCN1A):c.4729T>C (p.Cys1577Arg) rs121917919
NM_006920.4(SCN1A):c.4798G>T (p.Val1600Phe) rs121918630
NM_006920.4(SCN1A):c.4855G>A (p.Val1619Met) rs121917914
NM_006920.4(SCN1A):c.4861C>T (p.Pro1621Ser) rs121918755
NM_006920.4(SCN1A):c.4874G>A (p.Arg1625Gln) rs121917995
NM_006920.4(SCN1A):c.4901G>A (p.Arg1634Gln) rs121917976
NM_006920.4(SCN1A):c.4909C>T (p.Arg1637Cys) rs121918791
NM_006920.4(SCN1A):c.4910G>A (p.Arg1637His) rs121918622
NM_006920.4(SCN1A):c.4940C>G (p.Thr1647Arg) rs121917922
NM_006920.4(SCN1A):c.4949T>C (p.Phe1650Ser) rs121918797
NM_006920.4(SCN1A):c.4958T>A (p.Met1653Lys) rs121918765
NM_006920.4(SCN1A):c.4969C>G (p.Pro1657Ala) rs121917948
NM_006920.4(SCN1A):c.4973C>A (p.Ala1658Glu) rs397514458
NM_006920.4(SCN1A):c.4987G>C (p.Gly1663Arg) rs121918792
NM_006920.4(SCN1A):c.5021C>A (p.Ala1674Asp) rs121918744
NM_006920.4(SCN1A):c.5042T>C (p.Phe1681Ser) rs121918778
NM_006920.4(SCN1A):c.5048A>G (p.Tyr1683Cys) rs121918777
NM_006920.4(SCN1A):c.5086T>G (p.Phe1696Val) rs121917977
NM_006920.4(SCN1A):c.5093C>T (p.Thr1698Ile) rs121918629
NM_006920.4(SCN1A):c.5105G>A (p.Ser1702Asn) rs121918816
NM_006920.4(SCN1A):c.5108T>C (p.Met1703Thr) rs121917949
NM_006920.4(SCN1A):c.5108T>G (p.Met1703Arg) rs121917949
NM_006920.4(SCN1A):c.5113T>C (p.Cys1705Arg) rs121917926
NM_006920.4(SCN1A):c.5129C>G (p.Thr1710Arg) rs121917978
NM_006920.4(SCN1A):c.5143T>C (p.Trp1715Arg) rs121917979
NM_006920.4(SCN1A):c.5213G>A (p.Gly1738Glu) rs121918798
NM_006920.4(SCN1A):c.5233T>G (p.Cys1745Gly) rs121918809
NM_006920.4(SCN1A):c.5252G>A (p.Gly1751Glu) rs121917950
NM_006920.4(SCN1A):c.5285C>T (p.Ser1762Phe) rs121917951
NM_006920.4(SCN1A):c.5306T>C (p.Met1769Thr) rs121917952
NM_006920.4(SCN1A):c.5309A>G (p.Tyr1770Cys) rs121918779
NM_006920.4(SCN1A):c.5313C>G (p.Ile1771Met) rs121918763
NM_006920.4(SCN1A):c.5314G>A (p.Ala1772Thr) rs121917980
NM_006920.4(SCN1A):c.5315C>T (p.Ala1772Val) rs121917921
NM_006920.4(SCN1A):c.5326G>A (p.Glu1776Lys) rs121917916
NM_006920.4(SCN1A):c.5389T>C (p.Phe1797Leu) rs121918757
NM_006920.4(SCN1A):c.5401T>G (p.Trp1801Gly) rs121918751
NM_006920.4(SCN1A):c.5459T>C (p.Phe1820Ser) rs121918748
NM_006920.4(SCN1A):c.5522T>C (p.Met1841Thr) rs121918783
NM_006920.4(SCN1A):c.5610G>C (p.Glu1870Asp) rs121918804
NM_006920.4(SCN1A):c.5693C>T (p.Thr1898Ile) rs121918793
NM_006920.4(SCN1A):c.5732T>C (p.Ile1911Thr) rs121917981
NM_006920.5(SCN1A):c.4789G>T (p.Asp1597Tyr) rs121917915
NM_006920.5(SCN1A):c.4801G>A (p.Val1601Ile) rs121918808
NM_006920.5(SCN1A):c.4940C>T (p.Thr1647Met) rs121917922

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