ClinVar Miner

List of variants in gene combination LOC102724058, SCN1A reported as likely pathogenic for brain disorder

Included ClinVar conditions (1834):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 217
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HGVS dbSNP gnomAD frequency
NM_001165963.4(SCN1A):c.5510C>T (p.Pro1837Leu) rs149225252 0.00003
NM_001165963.4(SCN1A):c.4783C>A (p.Leu1595Ile) rs756238700 0.00002
NM_001165963.4(SCN1A):c.3241G>A (p.Gly1081Arg) rs1248613652 0.00001
NM_001165963.4(SCN1A):c.3629C>T (p.Thr1210Met) rs121918738 0.00001
NM_001165963.4(SCN1A):c.3721T>C (p.Tyr1241His) rs922514173 0.00001
NM_001165963.4(SCN1A):c.3734G>A (p.Arg1245Gln) rs121917912 0.00001
NM_001165963.4(SCN1A):c.3925C>T (p.Leu1309Phe) rs121918801 0.00001
NM_001165963.4(SCN1A):c.4676T>C (p.Met1559Thr) rs1689707865 0.00001
NM_001165963.4(SCN1A):c.5224G>A (p.Asp1742Asn) rs528239871 0.00001
NM_001165963.4(SCN1A):c.5620C>T (p.Arg1874Trp) rs796053043 0.00001
NM_001165963.4(SCN1A):c.5813C>T (p.Ala1938Val) rs915676341 0.00001
NC_000002.11:g.(?_166847704)_(166930181_?)dup
NM_001165963.4(SCN1A):c.3281A>T (p.Lys1094Ile) rs2105794473
NM_001165963.4(SCN1A):c.3429+1G>T rs1574166948
NM_001165963.4(SCN1A):c.3526_3530delinsTCTTCAGGTTCTGA (p.Glu1176_Pro1177delinsSerSerGlySerGlu)
NM_001165963.4(SCN1A):c.3551-1_3551delinsCT rs2105611998
NM_001165963.4(SCN1A):c.3551-2A>T rs2105612020
NM_001165963.4(SCN1A):c.3611G>C (p.Trp1204Ser) rs1559149128
NM_001165963.4(SCN1A):c.3620T>C (p.Leu1207Pro) rs121917963
NM_001165963.4(SCN1A):c.3641T>C (p.Ile1214Thr) rs1692873873
NM_001165963.4(SCN1A):c.3643G>A (p.Val1215Ile)
NM_001165963.4(SCN1A):c.3661G>A (p.Glu1221Lys)
NM_001165963.4(SCN1A):c.3662A>G (p.Glu1221Gly) rs1692866593
NM_001165963.4(SCN1A):c.3663G>C (p.Glu1221Asp)
NM_001165963.4(SCN1A):c.3663G>T (p.Glu1221Asp)
NM_001165963.4(SCN1A):c.3676T>G (p.Phe1226Val) rs2105609833
NM_001165963.4(SCN1A):c.3688C>T (p.Leu1230Phe) rs2105609699
NM_001165963.4(SCN1A):c.3692G>A (p.Ser1231Asn)
NM_001165963.4(SCN1A):c.3692G>T (p.Ser1231Ile)
NM_001165963.4(SCN1A):c.3695G>T (p.Ser1232Ile)
NM_001165963.4(SCN1A):c.3705+5G>A rs1060502189
NM_001165963.4(SCN1A):c.3706G>C (p.Ala1236Pro) rs794726770
NM_001165963.4(SCN1A):c.3712G>A (p.Glu1238Lys) rs750364705
NM_001165963.4(SCN1A):c.3721T>G (p.Tyr1241Asp)
NM_001165963.4(SCN1A):c.3752T>G (p.Met1251Arg) rs749638533
NM_001165963.4(SCN1A):c.3793C>A (p.Leu1265Met)
NM_001165963.4(SCN1A):c.3817G>C (p.Ala1273Pro) rs398123592
NM_001165963.4(SCN1A):c.3850T>C (p.Trp1284Arg) rs796053001
NM_001165963.4(SCN1A):c.3852G>C (p.Trp1284Cys)
NM_001165963.4(SCN1A):c.3862G>T (p.Asp1288Tyr) rs1553531134
NM_001165963.4(SCN1A):c.3863A>C (p.Asp1288Ala) rs1692543303
NM_001165963.4(SCN1A):c.3879+5G>T rs796052999
NM_001165963.4(SCN1A):c.3889dup (p.Val1297fs) rs2105571418
NM_001165963.4(SCN1A):c.3925C>G (p.Leu1309Val) rs121918801
NM_001165963.4(SCN1A):c.3926T>C (p.Leu1309Pro)
NM_001165963.4(SCN1A):c.3961_3962del (p.Leu1321fs)
NM_001165963.4(SCN1A):c.3966A>C (p.Arg1322Ser)
NM_001165963.4(SCN1A):c.3968C>T (p.Pro1323Leu) rs1057521746
NM_001165963.4(SCN1A):c.3976G>A (p.Ala1326Thr) rs121918803
NM_001165963.4(SCN1A):c.3982T>G (p.Ser1328Ala)
NM_001165963.4(SCN1A):c.3999G>A (p.Met1333Ile)
NM_001165963.4(SCN1A):c.4003-1G>A rs1574007140
NM_001165963.4(SCN1A):c.4003-4T>G
NM_001165963.4(SCN1A):c.4019T>C (p.Leu1340Pro) rs1691091949
NM_001165963.4(SCN1A):c.4027G>T (p.Ala1343Ser) rs796053006
NM_001165963.4(SCN1A):c.4033C>T (p.Pro1345Ser) rs1574006857
NM_001165963.4(SCN1A):c.4036T>C (p.Ser1346Pro) rs1553525337
NM_001165963.4(SCN1A):c.4039A>G (p.Ile1347Val)
NM_001165963.4(SCN1A):c.4039A>T (p.Ile1347Phe)
NM_001165963.4(SCN1A):c.4040T>A (p.Ile1347Asn) rs1553525325
NM_001165963.4(SCN1A):c.4040T>C (p.Ile1347Thr) rs1553525325
NM_001165963.4(SCN1A):c.4043T>C (p.Met1348Thr) rs1559128483
NM_001165963.4(SCN1A):c.4048G>A (p.Val1350Met) rs1574006637
NM_001165963.4(SCN1A):c.4051C>T (p.Leu1351Phe) rs1691082638
NM_001165963.4(SCN1A):c.4052T>C (p.Leu1351Pro) rs1553525313
NM_001165963.4(SCN1A):c.4060T>G (p.Cys1354Gly)
NM_001165963.4(SCN1A):c.4081T>G (p.Phe1361Val)
NM_001165963.4(SCN1A):c.4094G>A (p.Gly1365Asp) rs1691073965
NM_001165963.4(SCN1A):c.4096G>T (p.Val1366Leu) rs121918805
NM_001165963.4(SCN1A):c.4108G>C (p.Ala1370Pro) rs2105509598
NM_001165963.4(SCN1A):c.4111G>A (p.Gly1371Ser)
NM_001165963.4(SCN1A):c.4112G>A (p.Gly1371Asp) rs865867764
NM_001165963.4(SCN1A):c.4112G>T (p.Gly1371Val) rs865867764
NM_001165963.4(SCN1A):c.4122C>G (p.Tyr1374Ter)
NM_001165963.4(SCN1A):c.4124A>C (p.His1375Pro)
NM_001165963.4(SCN1A):c.4133A>T (p.Asn1378Ile) rs1131691775
NM_001165963.4(SCN1A):c.4146del (p.Asp1383fs) rs1574005699
NM_001165963.4(SCN1A):c.4169T>C (p.Val1390Ala)
NM_001165963.4(SCN1A):c.4216G>T (p.Ala1406Ser) rs1559127505
NM_001165963.4(SCN1A):c.4242C>A (p.Asn1414Lys)
NM_001165963.4(SCN1A):c.4245T>A (p.Phe1415Leu)
NM_001165963.4(SCN1A):c.4255G>C (p.Gly1419Arg)
NM_001165963.4(SCN1A):c.4256G>T (p.Gly1419Val) rs373547836
NM_001165963.4(SCN1A):c.4261G>T (p.Gly1421Trp)
NM_001165963.4(SCN1A):c.4264T>C (p.Tyr1422His)
NM_001165963.4(SCN1A):c.4265A>T (p.Tyr1422Phe) rs121917913
NM_001165963.4(SCN1A):c.4284+4A>C rs1691026372
NM_001165963.4(SCN1A):c.4286C>T (p.Ala1429Val) rs2105487145
NM_001165963.4(SCN1A):c.4309A>G (p.Ile1437Val)
NM_001165963.4(SCN1A):c.4310T>A (p.Ile1437Lys)
NM_001165963.4(SCN1A):c.4324G>T (p.Val1442Phe) rs1690574155
NM_001165963.4(SCN1A):c.4327G>A (p.Asp1443Asn) rs1573991676
NM_001165963.4(SCN1A):c.4338+616G>A rs1366966423
NM_001165963.4(SCN1A):c.4352C>G (p.Pro1451Arg) rs121917945
NM_001165963.4(SCN1A):c.4352C>T (p.Pro1451Leu) rs121917945
NM_001165963.4(SCN1A):c.4378T>C (p.Tyr1460His) rs1573984593
NM_001165963.4(SCN1A):c.4379A>G (p.Tyr1460Cys)
NM_001165963.4(SCN1A):c.4380T>G (p.Tyr1460Ter)
NM_001165963.4(SCN1A):c.4412C>G (p.Ser1471Cys)
NM_001165963.4(SCN1A):c.4414T>C (p.Phe1472Leu) rs1690331819
NM_001165963.4(SCN1A):c.4426A>T (p.Asn1476Tyr)
NM_001165963.4(SCN1A):c.4427A>T (p.Asn1476Ile)
NM_001165963.4(SCN1A):c.4428C>G (p.Asn1476Lys) rs1573984110
NM_001165963.4(SCN1A):c.4444A>C (p.Ile1482Leu) rs794729200
NM_001165963.4(SCN1A):c.4475_4476+1del
NM_001165963.4(SCN1A):c.4476+5G>T rs1553522266
NM_001165963.4(SCN1A):c.4476G>A (p.Lys1492=) rs1085307730
NM_001165963.4(SCN1A):c.4477-3T>A rs1690013843
NM_001165963.4(SCN1A):c.4481G>A (p.Gly1494Glu) rs2105462778
NM_001165963.4(SCN1A):c.4490A>G (p.Asp1497Gly)
NM_001165963.4(SCN1A):c.4493T>C (p.Ile1498Thr)
NM_001165963.4(SCN1A):c.4525A>C (p.Asn1509His) rs1690003122
NM_001165963.4(SCN1A):c.4529C>T (p.Ala1510Val) rs796053019
NM_001165963.4(SCN1A):c.4540T>A (p.Leu1514Ile)
NM_001165963.4(SCN1A):c.4541T>C (p.Leu1514Ser) rs121918764
NM_001165963.4(SCN1A):c.4555C>A (p.Pro1519Thr) rs796053021
NM_001165963.4(SCN1A):c.4556C>G (p.Pro1519Arg) rs372425457
NM_001165963.4(SCN1A):c.4563_4581+39del rs1559114202
NM_001165963.4(SCN1A):c.4581+18A>G rs1689981394
NM_001165963.4(SCN1A):c.4581+5G>C rs1559114303
NM_001165963.4(SCN1A):c.4582-2A>G rs2105449932
NM_001165963.4(SCN1A):c.4585A>T (p.Lys1529Ter)
NM_001165963.4(SCN1A):c.4601T>A (p.Val1534Asp) rs2105449751
NM_001165963.4(SCN1A):c.4630G>A (p.Asp1544Asn)
NM_001165963.4(SCN1A):c.4634T>A (p.Ile1545Lys) rs2105449347
NM_001165963.4(SCN1A):c.4634T>C (p.Ile1545Thr)
NM_001165963.4(SCN1A):c.4664T>G (p.Met1555Arg)
NM_001165963.4(SCN1A):c.4681G>A (p.Glu1561Lys) rs796053024
NM_001165963.4(SCN1A):c.4682A>G (p.Glu1561Gly) rs1573964264
NM_001165963.4(SCN1A):c.4752_4753del (p.Thr1585fs) rs2105448260
NM_001165963.4(SCN1A):c.4759G>C (p.Glu1587Gln)
NM_001165963.4(SCN1A):c.4775T>C (p.Leu1592Pro) rs1689684958
NM_001165963.4(SCN1A):c.4778T>A (p.Ile1593Asn)
NM_001165963.4(SCN1A):c.4780T>C (p.Ser1594Pro) rs2105447944
NM_001165963.4(SCN1A):c.4786C>A (p.Arg1596Ser)
NM_001165963.4(SCN1A):c.4786C>T (p.Arg1596Cys) rs121917993
NM_001165963.4(SCN1A):c.4787G>A (p.Arg1596His) rs575368466
NM_001165963.4(SCN1A):c.4814A>T (p.Asn1605Ile) rs1057519533
NM_001165963.4(SCN1A):c.4822G>T (p.Asp1608Tyr) rs121917915
NM_001165963.4(SCN1A):c.4852G>A (p.Gly1618Ser) rs2105447216
NM_001165963.4(SCN1A):c.4858T>C (p.Phe1620Leu) rs1689381070
NM_001165963.4(SCN1A):c.4860T>A (p.Phe1620Leu) rs2105435603
NM_001165963.4(SCN1A):c.4862T>C (p.Leu1621Pro) rs1573953706
NM_001165963.4(SCN1A):c.4867G>C (p.Glu1623Gln)
NM_001165963.4(SCN1A):c.4889T>C (p.Val1630Ala)
NM_001165963.4(SCN1A):c.4906C>G (p.Arg1636Gly)
NM_001165963.4(SCN1A):c.4907G>C (p.Arg1636Pro)
NM_001165963.4(SCN1A):c.4907G>T (p.Arg1636Leu)
NM_001165963.4(SCN1A):c.4915C>T (p.Arg1639Cys)
NM_001165963.4(SCN1A):c.4924A>G (p.Arg1642Gly)
NM_001165963.4(SCN1A):c.4963G>A (p.Gly1655Arg) rs1689350809
NM_001165963.4(SCN1A):c.4963G>T (p.Gly1655Trp)
NM_001165963.4(SCN1A):c.4964G>C (p.Gly1655Ala) rs1553520439
NM_001165963.4(SCN1A):c.4969C>A (p.Arg1657Ser)
NM_001165963.4(SCN1A):c.4970G>A (p.Arg1657His) rs121917994
NM_001165963.4(SCN1A):c.4970G>T (p.Arg1657Leu)
NM_001165963.4(SCN1A):c.4972A>C (p.Thr1658Pro) rs1064794766
NM_001165963.4(SCN1A):c.4972A>T (p.Thr1658Ser) rs1064794766
NM_001165963.4(SCN1A):c.4972_4973delinsTA (p.Thr1658Ter)
NM_001165963.4(SCN1A):c.4973C>T (p.Thr1658Met) rs121917922
NM_001165963.4(SCN1A):c.4988T>C (p.Leu1663Ser) rs1553520425
NM_001165963.4(SCN1A):c.4991T>C (p.Met1664Thr) rs121918765
NM_001165963.4(SCN1A):c.4995G>A (p.Met1665Ile) rs796053031
NM_001165963.4(SCN1A):c.4996T>A (p.Ser1666Thr)
NM_001165963.4(SCN1A):c.4997C>T (p.Ser1666Phe) rs794726760
NM_001165963.4(SCN1A):c.5017A>G (p.Ile1673Val) rs375651364
NM_001165963.4(SCN1A):c.5023C>T (p.Leu1675Phe)
NM_001165963.4(SCN1A):c.5036T>C (p.Leu1679Pro) rs2105433264
NM_001165963.4(SCN1A):c.5053G>A (p.Ala1685Thr)
NM_001165963.4(SCN1A):c.5066T>C (p.Met1689Thr)
NM_001165963.4(SCN1A):c.5075T>C (p.Phe1692Ser) rs121918778
NM_001165963.4(SCN1A):c.5080T>G (p.Tyr1694Asp) rs2105432780
NM_001165963.4(SCN1A):c.5111T>C (p.Met1704Thr) rs1689298888
NM_001165963.4(SCN1A):c.5114_5115delinsGT (p.Phe1705Cys) rs1689298277
NM_001165963.4(SCN1A):c.5126C>T (p.Thr1709Ile) rs121918629
NM_001165963.4(SCN1A):c.5129T>C (p.Phe1710Ser) rs1689294239
NM_001165963.4(SCN1A):c.5134A>G (p.Asn1712Asp)
NM_001165963.4(SCN1A):c.5136C>G (p.Asn1712Lys) rs2105432013
NM_001165963.4(SCN1A):c.5173G>A (p.Gly1725Ser) rs1689280236
NM_001165963.4(SCN1A):c.5174G>A (p.Gly1725Asp) rs1553520318
NM_001165963.4(SCN1A):c.5176T>A (p.Trp1726Arg)
NM_001165963.4(SCN1A):c.5177G>A (p.Trp1726Ter)
NM_001165963.4(SCN1A):c.5179G>T (p.Asp1727Tyr) rs1689278461
NM_001165963.4(SCN1A):c.5180A>G (p.Asp1727Gly) rs1689278062
NM_001165963.4(SCN1A):c.5182G>A (p.Gly1728Arg) rs1238612161
NM_001165963.4(SCN1A):c.5215C>T (p.Pro1739Ser) rs1689271992
NM_001165963.4(SCN1A):c.5218G>C (p.Asp1740His) rs796053035
NM_001165963.4(SCN1A):c.5218G>T (p.Asp1740Tyr) rs796053035
NM_001165963.4(SCN1A):c.5221T>A (p.Cys1741Ser)
NM_001165963.4(SCN1A):c.5224G>T (p.Asp1742Tyr) rs528239871
NM_001165963.4(SCN1A):c.5249del (p.Ser1750fs) rs2105430494
NM_001165963.4(SCN1A):c.5261G>A (p.Gly1754Glu) rs796053036
NM_001165963.4(SCN1A):c.5266T>C (p.Cys1756Arg)
NM_001165963.4(SCN1A):c.5288_5289delinsCCCATCTG (p.Ile1763delinsThrHisLeu) rs1573948129
NM_001165963.4(SCN1A):c.5299G>T (p.Val1767Phe)
NM_001165963.4(SCN1A):c.5308A>T (p.Ile1770Phe) rs1573947939
NM_001165963.4(SCN1A):c.5324T>C (p.Leu1775Pro) rs2105429381
NM_001165963.4(SCN1A):c.5344A>G (p.Ile1782Val)
NM_001165963.4(SCN1A):c.5351T>C (p.Val1784Ala) rs1057518671
NM_001165963.4(SCN1A):c.5383G>C (p.Glu1795Gln) rs121918813
NM_001165963.4(SCN1A):c.5422_5430del (p.Phe1808_Glu1810del) rs2105428012
NM_001165963.4(SCN1A):c.5435G>T (p.Trp1812Leu)
NM_001165963.4(SCN1A):c.5443T>C (p.Phe1815Leu) rs1689211960
NM_001165963.4(SCN1A):c.5501C>T (p.Ala1834Val) rs780809852
NM_001165963.4(SCN1A):c.5546T>C (p.Leu1849Pro) rs1689186812
NM_001165963.4(SCN1A):c.5554A>G (p.Met1852Val)
NM_001165963.4(SCN1A):c.5581C>T (p.Arg1861Trp) rs760906812
NM_001165963.4(SCN1A):c.5582G>A (p.Arg1861Gln) rs796053042
NM_001165963.4(SCN1A):c.5597A>G (p.Asp1866Gly) rs1553520029
NM_001165963.4(SCN1A):c.5621G>A (p.Arg1874Gln) rs1060502186
NM_001165963.4(SCN1A):c.5624_5630del (p.Val1875fs) rs2105425236
NM_001165963.4(SCN1A):c.5657G>A (p.Arg1886Gln) rs1559100385
NM_001165963.4(SCN1A):c.5756C>G (p.Ala1919Gly) rs1689142827
NM_001165963.4(SCN1A):c.5767C>A (p.Gln1923Lys) rs1553519865
NM_001165963.4(SCN1A):c.5768A>C (p.Gln1923Pro) rs1689139851
NM_001165963.4(SCN1A):c.5769G>C (p.Gln1923His) rs2105423415
NM_001165963.4(SCN1A):c.5781_5782delinsTG (p.Arg1927_Arg1928delinsSerGly) rs1689136140

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