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: 162
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HGVS dbSNP gnomAD frequency
NC_000002.12:g.(?_165985812)_(166002754_166009718)del
NM_001165963.4(SCN1A):c.3106C>T (p.Gln1036Ter) rs542420576
NM_001165963.4(SCN1A):c.3124C>T (p.Gln1042Ter) rs1553540342
NM_001165963.4(SCN1A):c.3173_3176del (p.Lys1058fs) rs1696358124
NM_001165963.4(SCN1A):c.3182del (p.Cys1061fs)
NM_001165963.4(SCN1A):c.3306C>A (p.Tyr1102Ter) rs863225032
NM_001165963.4(SCN1A):c.3311C>G (p.Ser1104Ter) rs1574168611
NM_001165963.4(SCN1A):c.3439G>T (p.Glu1147Ter) rs794726733
NM_001165963.4(SCN1A):c.3455C>A (p.Ser1152Ter) rs794726728
NM_001165963.4(SCN1A):c.3477del (p.Ile1159fs) rs794726729
NM_001165963.4(SCN1A):c.3487del (p.Pro1162_Val1163insTer) rs794726774
NM_001165963.4(SCN1A):c.3496C>T (p.Gln1166Ter) rs368609628
NM_001165963.4(SCN1A):c.3531_3534dup (p.Ala1179fs) rs1574069132
NM_001165963.4(SCN1A):c.3550+1G>A rs794726836
NM_001165963.4(SCN1A):c.3609del (p.Gln1203fs) rs1574061044
NM_001165963.4(SCN1A):c.3611G>A (p.Trp1204Ter) rs1559149128
NM_001165963.4(SCN1A):c.3612G>A (p.Trp1204Ter) rs1553532671
NM_001165963.4(SCN1A):c.3615G>A (p.Trp1205Ter) rs794726720
NM_001165963.4(SCN1A):c.3629C>A (p.Thr1210Lys) rs121918738
NM_001165963.4(SCN1A):c.3637C>T (p.Arg1213Ter) rs794726710
NM_001165963.4(SCN1A):c.3657G>A (p.Trp1219Ter) rs863225033
NM_001165963.4(SCN1A):c.3661G>C (p.Glu1221Gln) rs794726854
NM_001165963.4(SCN1A):c.3690dup (p.Ser1231Ter) rs1057519534
NM_001165963.4(SCN1A):c.3704del (p.Leu1235fs) rs869312670
NM_001165963.4(SCN1A):c.3705+1G>A rs794726744
NM_001165963.4(SCN1A):c.3705+2T>A rs794726735
NM_001165963.4(SCN1A):c.3706G>C (p.Ala1236Pro) rs794726770
NM_001165963.4(SCN1A):c.3726_3727insAT (p.Asp1243fs) rs794726706
NM_001165963.4(SCN1A):c.3730C>T (p.Gln1244Ter) rs794726727
NM_001165963.4(SCN1A):c.3733C>T (p.Arg1245Ter) rs727504136
NM_001165963.4(SCN1A):c.3757G>T (p.Glu1253Ter) rs794726817
NM_001165963.4(SCN1A):c.3757_3763dup (p.Ala1255fs) rs1574052179
NM_001165963.4(SCN1A):c.3763G>C (p.Ala1255Pro) rs777939538
NM_001165963.4(SCN1A):c.3778A>C (p.Thr1260Pro) rs121918739
NM_001165963.4(SCN1A):c.3802_3812del (p.Leu1268fs) rs794726709
NM_001165963.4(SCN1A):c.3818C>T (p.Ala1273Val) rs794726841
NM_001165963.4(SCN1A):c.3821A>C (p.Tyr1274Ser) rs794726852
NM_001165963.4(SCN1A):c.3828T>A (p.Tyr1276Ter) rs794726731
NM_001165963.4(SCN1A):c.3837T>G (p.Tyr1279Ter)
NM_001165963.4(SCN1A):c.3852del (p.Trp1284fs) rs863225034
NM_001165963.4(SCN1A):c.3858G>A (p.Trp1286Ter) rs794726853
NM_001165963.4(SCN1A):c.3860T>C (p.Leu1287Pro) rs121918740
NM_001165963.4(SCN1A):c.3879+1G>T rs794726700
NM_001165963.4(SCN1A):c.3880-2A>G rs794726816
NM_001165963.4(SCN1A):c.3880-2_3880-1del
NM_001165963.4(SCN1A):c.3899C>G (p.Thr1300Arg) rs146878122
NM_001165963.4(SCN1A):c.3944_3945del (p.Leu1315fs) rs1692166604
NM_001165963.4(SCN1A):c.3970_3971dup (p.Leu1324_Arg1325insTer) rs794726723
NM_001165963.4(SCN1A):c.3985C>T (p.Arg1329Ter) rs796053004
NM_001165963.4(SCN1A):c.4002+1195_4284+346delinsTATT
NM_001165963.4(SCN1A):c.4002+1G>T rs1692153643
NM_001165963.4(SCN1A):c.4002+2451G>C rs869312684
NM_001165963.4(SCN1A):c.4003-1G>A rs1574007140
NM_001165963.4(SCN1A):c.4003G>A (p.Val1335Met) rs121917960
NM_001165963.4(SCN1A):c.4016C>T (p.Ala1339Val) rs794726789
NM_001165963.4(SCN1A):c.4044G>A (p.Met1348Ile) rs794726822
NM_001165963.4(SCN1A):c.4055T>C (p.Leu1352Pro) rs794726821
NM_001165963.4(SCN1A):c.4086C>G (p.Ser1362Arg) rs794726779
NM_001165963.4(SCN1A):c.4088T>A (p.Ile1363Asn) rs794726707
NM_001165963.4(SCN1A):c.4094G>A (p.Gly1365Asp) rs1691073965
NM_001165963.4(SCN1A):c.4168G>A (p.Val1390Met) rs121917986
NM_001165963.4(SCN1A):c.4168G>C (p.Val1390Leu) rs121917986
NM_001165963.4(SCN1A):c.4178A>C (p.His1393Pro)
NM_001165963.4(SCN1A):c.4188C>A (p.Cys1396Ter) rs794726745
NM_001165963.4(SCN1A):c.4219C>T (p.Arg1407Ter) rs398123593
NM_001165963.4(SCN1A):c.4223G>A (p.Trp1408Ter) rs794726784
NM_001165963.4(SCN1A):c.4244_4245del (p.Asn1414_Phe1415insTer) rs794726705
NM_001165963.4(SCN1A):c.4266T>A (p.Tyr1422Ter) rs863225035
NM_001165963.4(SCN1A):c.4279C>T (p.Gln1427Ter)
NM_001165963.4(SCN1A):c.4284+1G>A rs1553524865
NM_001165963.4(SCN1A):c.4298G>A (p.Gly1433Glu) rs121918741
NM_001165963.4(SCN1A):c.4302G>A (p.Trp1434Ter) rs794726699
NM_001165963.4(SCN1A):c.4318G>A (p.Ala1440Thr) rs2105486716
NM_001165963.4(SCN1A):c.4338+4A>C rs794726734
NM_001165963.4(SCN1A):c.4351C>A (p.Pro1451Thr) rs794726696
NM_001165963.4(SCN1A):c.4378del (p.Tyr1460fs) rs2105476550
NM_001165963.4(SCN1A):c.4380T>A (p.Tyr1460Ter)
NM_001165963.4(SCN1A):c.4412C>T (p.Ser1471Phe) rs794726809
NM_001165963.4(SCN1A):c.4418T>C (p.Phe1473Ser)
NM_001165963.4(SCN1A):c.4423T>G (p.Leu1475Val) rs2105476084
NM_001165963.4(SCN1A):c.4428C>A (p.Asn1476Lys) rs1573984110
NM_001165963.4(SCN1A):c.4476+1A>G rs796053014
NM_001165963.4(SCN1A):c.4477-2A>G rs863225036
NM_001165963.4(SCN1A):c.4511del (p.Gln1504fs)
NM_001165963.4(SCN1A):c.4539dup (p.Leu1514fs) rs1573973548
NM_001165963.4(SCN1A):c.4547C>A (p.Ser1516Ter) rs139300715
NM_001165963.4(SCN1A):c.4547C>G (p.Ser1516Trp) rs139300715
NM_001165963.4(SCN1A):c.4549A>T (p.Lys1517Ter) rs794726835
NM_001165963.4(SCN1A):c.4554del (p.Lys1518fs) rs794726825
NM_001165963.4(SCN1A):c.4573C>T (p.Arg1525Ter) rs794726752
NM_001165963.4(SCN1A):c.4581+1G>A rs1689986058
NM_001165963.4(SCN1A):c.4611_4645dup (p.Ile1549delinsThrTer) rs794726757
NM_001165963.4(SCN1A):c.4704T>A (p.Tyr1568Ter) rs1573963975
NM_001165963.4(SCN1A):c.4757G>A (p.Gly1586Glu) rs121918742
NM_001165963.4(SCN1A):c.4766T>G (p.Val1589Gly) rs764037830
NM_001165963.4(SCN1A):c.4769T>C (p.Leu1590Pro)
NM_001165963.4(SCN1A):c.4786C>T (p.Arg1596Cys) rs121917993
NM_001165963.4(SCN1A):c.4789_4792del (p.His1597fs) rs1689680658
NM_001165963.4(SCN1A):c.4811G>A (p.Trp1604Ter) rs794726800
NM_001165963.4(SCN1A):c.4822G>T (p.Asp1608Tyr) rs121917915
NM_001165963.4(SCN1A):c.4823del (p.Asp1608fs) rs794726785
NM_001165963.4(SCN1A):c.4829_4830dup (p.Val1611fs) rs794726850
NM_001165963.4(SCN1A):c.4831G>T (p.Val1611Phe) rs121918630
NM_001165963.4(SCN1A):c.4853-1G>C rs1553520530
NM_001165963.4(SCN1A):c.4879_4883dup (p.Tyr1628Ter) rs794726701
NM_001165963.4(SCN1A):c.4884T>A (p.Tyr1628Ter)
NM_001165963.4(SCN1A):c.4906C>T (p.Arg1636Ter) rs199727342
NM_001165963.4(SCN1A):c.4907G>A (p.Arg1636Gln) rs121917995
NM_001165963.4(SCN1A):c.4915C>G (p.Arg1639Gly) rs1573953030
NM_001165963.4(SCN1A):c.4933C>T (p.Arg1645Ter) rs794726759
NM_001165963.4(SCN1A):c.4934G>A (p.Arg1645Gln) rs121917976
NM_001165963.4(SCN1A):c.4934G>C (p.Arg1645Pro) rs121917976
NM_001165963.4(SCN1A):c.4942C>T (p.Arg1648Cys) rs121918791
NM_001165963.4(SCN1A):c.4973C>T (p.Thr1658Met) rs121917922
NM_001165963.4(SCN1A):c.4985C>T (p.Ala1662Val) rs794726839
NM_001165963.4(SCN1A):c.4993_4996dup (p.Ser1666fs) rs794726819
NM_001165963.4(SCN1A):c.4997C>T (p.Ser1666Phe) rs794726760
NM_001165963.4(SCN1A):c.5003C>G (p.Pro1668Arg) rs794726698
NM_001165963.4(SCN1A):c.5003del (p.Pro1668fs) rs794726758
NM_001165963.4(SCN1A):c.5006C>A (p.Ala1669Glu) rs397514458
NM_001165963.4(SCN1A):c.5010_5013del (p.Phe1671fs) rs794726754
NM_001165963.4(SCN1A):c.5014A>C (p.Asn1672His) rs794726740
NM_001165963.4(SCN1A):c.5063G>T (p.Gly1688Val) rs794726851
NM_001165963.4(SCN1A):c.5082T>G (p.Tyr1694Ter) rs794726748
NM_001165963.4(SCN1A):c.5087del (p.Lys1696fs) rs1689309551
NM_001165963.4(SCN1A):c.5106T>A (p.Asp1702Glu) rs794726804
NM_001165963.4(SCN1A):c.5108A>T (p.Asp1703Val) rs794726802
NM_001165963.4(SCN1A):c.5126C>T (p.Thr1709Ile) rs121918629
NM_001165963.4(SCN1A):c.5217del (p.Asp1740fs) rs1573949198
NM_001165963.4(SCN1A):c.5222G>A (p.Cys1741Tyr) rs794726763
NM_001165963.4(SCN1A):c.5250_5251insGG (p.Ser1751fs) rs794726702
NM_001165963.4(SCN1A):c.5250_5252del (p.Ser1750_Ser1751delinsArg) rs794726703
NM_001165963.4(SCN1A):c.5264A>G (p.Asp1755Gly) rs794726722
NM_001165963.4(SCN1A):c.5284_5291dup (p.Phe1764fs) rs794726814
NM_001165963.4(SCN1A):c.5285G>A (p.Gly1762Glu) rs121917950
NM_001165963.4(SCN1A):c.5294T>C (p.Phe1765Ser)
NM_001165963.4(SCN1A):c.5297_5298del (p.Phe1766fs) rs794726832
NM_001165963.4(SCN1A):c.5300T>A (p.Val1767Asp) rs2105429648
NM_001165963.4(SCN1A):c.5334del (p.Asn1779fs) rs794726783
NM_001165963.4(SCN1A):c.5343del (p.Met1780_Tyr1781insTer) rs1689241423
NM_001165963.4(SCN1A):c.5346C>G (p.Ile1782Met) rs121918763
NM_001165963.4(SCN1A):c.5347G>A (p.Ala1783Thr) rs121917980
NM_001165963.4(SCN1A):c.5348C>T (p.Ala1783Val) rs121917921
NM_001165963.4(SCN1A):c.5349_5352dup (p.Ile1785fs) rs794726741
NM_001165963.4(SCN1A):c.5404G>T (p.Glu1802Ter) rs794726780
NM_001165963.4(SCN1A):c.5436G>A (p.Trp1812Ter) rs863225037
NM_001165963.4(SCN1A):c.5461C>T (p.Gln1821Ter) rs794726781
NM_001165963.4(SCN1A):c.5468T>C (p.Met1823Thr) rs1559101839
NM_001165963.4(SCN1A):c.5470G>T (p.Glu1824Ter) rs794726769
NM_001165963.4(SCN1A):c.5488C>T (p.Gln1830Ter) rs1553520103
NM_001165963.4(SCN1A):c.5489dup (p.Phe1831fs) rs1573945872
NM_001165963.4(SCN1A):c.5515C>G (p.Leu1839Val) rs794726801
NM_001165963.4(SCN1A):c.5536A>T (p.Lys1846Ter) rs372098964
NM_001165963.4(SCN1A):c.5536_5539del (p.Lys1846fs) rs794726726
NM_001165963.4(SCN1A):c.5540_5543dup (p.Gln1848fs) rs2105426446
NM_001165963.4(SCN1A):c.5555T>C (p.Met1852Thr) rs121918783
NM_001165963.4(SCN1A):c.5564C>A (p.Pro1855His)
NM_001165963.4(SCN1A):c.5656C>T (p.Arg1886Ter) rs779614747
NM_001165963.4(SCN1A):c.5662C>T (p.Gln1888Ter) rs794726845
NM_001165963.4(SCN1A):c.5674C>T (p.Arg1892Ter) rs794726739
NM_001165963.4(SCN1A):c.5726C>T (p.Thr1909Ile) rs121918793
NM_001165963.4(SCN1A):c.5780G>C (p.Arg1927Thr) rs794726737

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