ClinVar Miner

List of variants in gene combination LOC102724058, SCN1A reported as pathogenic for Severe myoclonic epilepsy in infancy

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Total variants: 112
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HGVS dbSNP
NM_006920.6(SCN1A):c.3073C>T (p.Gln1025Ter) rs542420576
NM_006920.6(SCN1A):c.3273C>A (p.Tyr1091Ter) rs863225032
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.3576del (p.Gln1192fs)
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.3624G>A (p.Trp1208Ter) rs863225033
NM_006920.6(SCN1A):c.3628G>C (p.Glu1210Gln) rs794726854
NM_006920.6(SCN1A):c.3657dup (p.Ser1220Ter) rs1057519534
NM_006920.6(SCN1A):c.3671del (p.Leu1224fs) rs869312670
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.3819del (p.Trp1273fs) rs863225034
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.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.3952C>T (p.Arg1318Ter) rs796053004
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.4233T>A (p.Tyr1411Ter) rs863225035
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.4379C>T (p.Ser1460Phe) rs794726809
NM_006920.6(SCN1A):c.4443+1A>G rs796053014
NM_006920.6(SCN1A):c.4444-2A>G rs863225036
NM_006920.6(SCN1A):c.4514C>A (p.Ser1505Ter) rs139300715
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.4733T>G (p.Val1578Gly) rs764037830
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.4798G>T (p.Val1600Phe) rs121918630
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>A (p.Arg1634Gln) rs121917976
NM_006920.6(SCN1A):c.4901G>C (p.Arg1634Pro) rs121917976
NM_006920.6(SCN1A):c.4909C>T (p.Arg1637Cys) rs121918791
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.4973C>A (p.Ala1658Glu) rs397514458
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.5093C>T (p.Thr1698Ile) rs121918629
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.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.5403G>A (p.Trp1801Ter) rs863225037
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.5693C>T (p.Thr1898Ile) rs121918793
NM_006920.6(SCN1A):c.5747G>C (p.Arg1916Thr) rs794726737

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