ClinVar Miner

List of variants in gene combination LOC102724058, SCN1A reported as pathogenic for not provided

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Total variants: 141
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HGVS dbSNP gnomAD frequency
NM_001165963.4(SCN1A):c.4495T>C (p.Phe1499Leu) rs121918632 0.00001
NM_001165963.4(SCN1A):c.4969C>T (p.Arg1657Cys) rs121918811 0.00001
NM_001165963.4(SCN1A):c.3089_3091delinsAA (p.Ile1030fs) rs2105796316
NM_001165963.4(SCN1A):c.3093T>A (p.Tyr1031Ter) rs1553540382
NM_001165963.4(SCN1A):c.3106C>T (p.Gln1036Ter) rs542420576
NM_001165963.4(SCN1A):c.3195_3196del (p.Thr1066fs) rs1553540282
NM_001165963.4(SCN1A):c.3268dup (p.Ser1090fs) rs796053070
NM_001165963.4(SCN1A):c.3282del (p.Lys1094fs) rs1696338792
NM_001165963.4(SCN1A):c.3295G>T (p.Glu1099Ter) rs1553540207
NM_001165963.4(SCN1A):c.3351del (p.Ile1117fs) rs1696322307
NM_001165963.4(SCN1A):c.3361G>T (p.Glu1121Ter) rs796052993
NM_001165963.4(SCN1A):c.3371_3372del (p.Asp1123_Phe1124insTer) rs1131691693
NM_001165963.4(SCN1A):c.3377dup (p.Asn1126fs) rs1064796177
NM_001165963.4(SCN1A):c.3409del (p.Asp1137fs) rs796053071
NM_001165963.4(SCN1A):c.3425_3426del (p.Lys1142fs) rs886039529
NM_001165963.4(SCN1A):c.3429+1G>T rs1574166948
NM_001165963.4(SCN1A):c.3429G>A (p.Glu1143=) rs796052994
NM_001165963.4(SCN1A):c.3496C>T (p.Gln1166Ter) rs368609628
NM_001165963.4(SCN1A):c.3553del (p.Cys1185fs) rs796053068
NM_001165963.4(SCN1A):c.3569dup (p.Cys1191fs) rs1692895957
NM_001165963.4(SCN1A):c.3607C>T (p.Gln1203Ter) rs796052995
NM_001165963.4(SCN1A):c.3610T>C (p.Trp1204Arg) rs121917930
NM_001165963.4(SCN1A):c.3627_3630del (p.Arg1209fs) rs1692878257
NM_001165963.4(SCN1A):c.3637C>T (p.Arg1213Ter) rs794726710
NM_001165963.4(SCN1A):c.3646_3659del (p.Val1215_Glu1216insTer) rs2105610084
NM_001165963.4(SCN1A):c.3656G>A (p.Trp1219Ter) rs1692870117
NM_001165963.4(SCN1A):c.3717dup (p.Ile1240fs) rs1692581621
NM_001165963.4(SCN1A):c.3724_3725dup (p.Asp1243fs) rs796053072
NM_001165963.4(SCN1A):c.3733C>T (p.Arg1245Ter) rs727504136
NM_001165963.4(SCN1A):c.3776dup (p.Thr1260fs) rs796053073
NM_001165963.4(SCN1A):c.3783C>A (p.Tyr1261Ter) rs1043031572
NM_001165963.4(SCN1A):c.3835del (p.Tyr1279fs) rs1574051206
NM_001165963.4(SCN1A):c.3852G>A (p.Trp1284Ter) rs1553531178
NM_001165963.4(SCN1A):c.3853dup (p.Cys1285fs) rs796053074
NM_001165963.4(SCN1A):c.3857G>A (p.Trp1286Ter) rs886039705
NM_001165963.4(SCN1A):c.3877del (p.Asp1293fs) rs886041562
NM_001165963.4(SCN1A):c.3898del (p.Thr1300fs) rs1057518229
NM_001165963.4(SCN1A):c.3952_3975del (p.Leu1318_Arg1325del) rs1553529461
NM_001165963.4(SCN1A):c.3957_3958del (p.Arg1319fs) rs1692162437
NM_001165963.4(SCN1A):c.3965G>C (p.Arg1322Thr) rs2105569996
NM_001165963.4(SCN1A):c.3966_3976del (p.Arg1322fs) rs796053107
NM_001165963.4(SCN1A):c.3985C>T (p.Arg1329Ter) rs796053004
NM_001165963.4(SCN1A):c.4006G>A (p.Val1336Ile) rs796053005
NM_001165963.4(SCN1A):c.4016C>A (p.Ala1339Asp) rs794726789
NM_001165963.4(SCN1A):c.4027G>C (p.Ala1343Pro) rs796053006
NM_001165963.4(SCN1A):c.4040T>C (p.Ile1347Thr) rs1553525325
NM_001165963.4(SCN1A):c.4141del (p.Thr1381fs) rs1553525146
NM_001165963.4(SCN1A):c.4158_4163delinsATAATCATACTGATTGCCTAAAACTAAT (p.Asp1386_Glu1388delinsGluTer) rs886039712
NM_001165963.4(SCN1A):c.4160del (p.Ile1387fs) rs1064796714
NM_001165963.4(SCN1A):c.4166del (p.Asp1389fs) rs796053077
NM_001165963.4(SCN1A):c.4168G>A (p.Val1390Met) rs121917986
NM_001165963.4(SCN1A):c.4205_4208del (p.Arg1402fs) rs1691048388
NM_001165963.4(SCN1A):c.4216dup (p.Ala1406fs) rs796053078
NM_001165963.4(SCN1A):c.4219C>T (p.Arg1407Ter) rs398123593
NM_001165963.4(SCN1A):c.4224G>A (p.Trp1408Ter) rs794727337
NM_001165963.4(SCN1A):c.4284+2T>C rs398123595
NM_001165963.4(SCN1A):c.4285G>A (p.Ala1429Thr) rs796053008
NM_001165963.4(SCN1A):c.4297G>C (p.Gly1433Arg) rs121917908
NM_001165963.4(SCN1A):c.4298G>A (p.Gly1433Glu) rs121918741
NM_001165963.4(SCN1A):c.4300T>C (p.Trp1434Arg) rs121918789
NM_001165963.4(SCN1A):c.4318del (p.Ala1440fs) rs796053079
NM_001165963.4(SCN1A):c.4338+1G>T rs1553523138
NM_001165963.4(SCN1A):c.4348C>T (p.Gln1450Ter) rs121918806
NM_001165963.4(SCN1A):c.4386C>G (p.Tyr1462Ter) rs587781146
NM_001165963.4(SCN1A):c.4476+1A>G rs796053014
NM_001165963.4(SCN1A):c.4476+1A>T rs796053014
NM_001165963.4(SCN1A):c.4476G>A (p.Lys1492=) rs1085307730
NM_001165963.4(SCN1A):c.4504G>T (p.Glu1502Ter) rs1553521538
NM_001165963.4(SCN1A):c.4512G>T (p.Gln1504His) rs1559114837
NM_001165963.4(SCN1A):c.4521C>A (p.Tyr1507Ter) rs750997506
NM_001165963.4(SCN1A):c.4521C>G (p.Tyr1507Ter) rs750997506
NM_001165963.4(SCN1A):c.4547C>A (p.Ser1516Ter) rs139300715
NM_001165963.4(SCN1A):c.4548del (p.Lys1518fs) rs796053081
NM_001165963.4(SCN1A):c.4549A>T (p.Lys1517Ter) rs794726835
NM_001165963.4(SCN1A):c.4554dup (p.Pro1519fs) rs794726825
NM_001165963.4(SCN1A):c.4562del (p.Lys1521fs) rs1064796343
NM_001165963.4(SCN1A):c.4573C>T (p.Arg1525Ter) rs794726752
NM_001165963.4(SCN1A):c.4610dup (p.Val1538fs) rs886041982
NM_001165963.4(SCN1A):c.4681G>T (p.Glu1561Ter) rs796053024
NM_001165963.4(SCN1A):c.4764T>A (p.Cys1588Ter) rs1553520980
NM_001165963.4(SCN1A):c.4777_4778del (p.Ile1593fs) rs796053080
NM_001165963.4(SCN1A):c.4783_4784del (p.Leu1595fs) rs1689682880
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.4794T>G (p.Tyr1598Ter) rs796053026
NM_001165963.4(SCN1A):c.4812del (p.Gly1603_Trp1604insTer) rs886043532
NM_001165963.4(SCN1A):c.4821del (p.Phe1607fs) rs796053083
NM_001165963.4(SCN1A):c.4838_4843delinsCAAAATGGTAGGTTGTCTTACCTA (p.Ile1613_Ser1615delinsThrLysTrpTer)
NM_001165963.4(SCN1A):c.4853-1G>A rs1553520530
NM_001165963.4(SCN1A):c.4853-1G>C rs1553520530
NM_001165963.4(SCN1A):c.4896dup (p.Thr1633fs) rs796053084
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.4931G>A (p.Gly1644Asp) rs796053030
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.4942C>T (p.Arg1648Cys) rs121918791
NM_001165963.4(SCN1A):c.4943G>A (p.Arg1648His) rs121918622
NM_001165963.4(SCN1A):c.4943G>C (p.Arg1648Pro)
NM_001165963.4(SCN1A):c.4943G>T (p.Arg1648Leu) rs121918622
NM_001165963.4(SCN1A):c.4979T>C (p.Leu1660Pro) rs1131691675
NM_001165963.4(SCN1A):c.4990A>C (p.Met1664Leu) rs1689339718
NM_001165963.4(SCN1A):c.5010_5013del (p.Phe1671fs) rs794726754
NM_001165963.4(SCN1A):c.5020_5025del (p.Gly1674_Leu1675del) rs797044982
NM_001165963.4(SCN1A):c.5053G>C (p.Ala1685Pro) rs760249153
NM_001165963.4(SCN1A):c.5115del (p.Phe1705fs)
NM_001165963.4(SCN1A):c.5146T>C (p.Cys1716Arg) rs121917926
NM_001165963.4(SCN1A):c.5153T>C (p.Phe1718Ser) rs1131691793
NM_001165963.4(SCN1A):c.5162C>A (p.Thr1721Lys) rs121917978
NM_001165963.4(SCN1A):c.5182_5198del (p.Gly1728fs) rs1553520298
NM_001165963.4(SCN1A):c.5222G>A (p.Cys1741Tyr) rs794726763
NM_001165963.4(SCN1A):c.5273_5277del (p.Asn1758fs) rs796053085
NM_001165963.4(SCN1A):c.5294_5298del (p.Phe1765fs) rs794726832
NM_001165963.4(SCN1A):c.5303G>A (p.Ser1768Asn)
NM_001165963.4(SCN1A):c.5330T>C (p.Val1777Ala) rs1689245014
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.5386del (p.Ser1796fs) rs1553520151
NM_001165963.4(SCN1A):c.5403_5406del (p.Ser1801fs) rs1085307901
NM_001165963.4(SCN1A):c.5416G>T (p.Glu1806Ter) rs796053039
NM_001165963.4(SCN1A):c.5422T>C (p.Phe1808Leu) rs121918757
NM_001165963.4(SCN1A):c.5435G>A (p.Trp1812Ter) rs796053040
NM_001165963.4(SCN1A):c.5468T>C (p.Met1823Thr) rs1559101839
NM_001165963.4(SCN1A):c.5492T>G (p.Phe1831Cys) rs121918748
NM_001165963.4(SCN1A):c.5504_5512del (p.Leu1835_Pro1837del) rs797044983
NM_001165963.4(SCN1A):c.5536_5539del (p.Lys1846fs) rs794726726
NM_001165963.4(SCN1A):c.5539del (p.Leu1847fs) rs398123599
NM_001165963.4(SCN1A):c.5567T>A (p.Met1856Lys) rs796053041
NM_001165963.4(SCN1A):c.5567T>C (p.Met1856Thr) rs796053041
NM_001165963.4(SCN1A):c.5656C>T (p.Arg1886Ter) rs779614747
NM_001165963.4(SCN1A):c.5674C>T (p.Arg1892Ter) rs794726739
NM_001165963.4(SCN1A):c.5708_5711dup (p.Pro1905fs) rs796053086
NM_001165963.4(SCN1A):c.5710C>T (p.Gln1904Ter) rs796053103
NM_001165963.4(SCN1A):c.5726C>T (p.Thr1909Ile) rs121918793
NM_001165963.4(SCN1A):c.5734C>T (p.Arg1912Ter) rs77216276
NM_001165963.4(SCN1A):c.5741_5742del (p.Gln1914fs) rs1689146216
NM_001165963.4(SCN1A):c.5744_5748del (p.Glu1915fs) rs797044984
NM_001165963.4(SCN1A):c.5746G>T (p.Glu1916Ter) rs796053046
NM_001165963.4(SCN1A):c.5746del (p.Glu1916fs) rs796053087
NM_001165963.4(SCN1A):c.5778C>G (p.Tyr1926Ter) rs1064794251
NM_001165963.4(SCN1A):c.5788del (p.Leu1930fs) rs2105423091

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