ClinVar Miner

List of variants in gene combination LOC102724058, SCN1A reported as uncertain significance by GeneDx

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Total variants: 143
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HGVS dbSNP gnomAD frequency
NM_001165963.4(SCN1A):c.3714A>C (p.Glu1238Asp) rs121917973 0.00008
NM_001165963.4(SCN1A):c.3481G>A (p.Ala1161Thr) rs201079458 0.00006
NM_001165963.4(SCN1A):c.4345C>T (p.Leu1449Phe) rs768638174 0.00004
NM_001165963.4(SCN1A):c.3752T>C (p.Met1251Thr) rs749638533 0.00003
NM_001165963.4(SCN1A):c.4547C>T (p.Ser1516Leu) rs139300715 0.00003
NM_001165963.4(SCN1A):c.4582-3C>T rs747649993 0.00003
NM_001165963.4(SCN1A):c.4723C>T (p.Arg1575Cys) rs121918807 0.00003
NM_001165963.4(SCN1A):c.5510C>T (p.Pro1837Leu) rs149225252 0.00003
NM_001165963.4(SCN1A):c.5822C>T (p.Thr1941Met) rs756845310 0.00003
NM_001165963.4(SCN1A):c.5988A>C (p.Lys1996Asn) rs371243629 0.00003
NM_001165963.4(SCN1A):c.3597C>T (p.Gly1199=) rs376901032 0.00002
NM_001165963.4(SCN1A):c.4096G>A (p.Val1366Ile) rs121918805 0.00002
NM_001165963.4(SCN1A):c.4783C>A (p.Leu1595Ile) rs756238700 0.00002
NM_001165963.4(SCN1A):c.5801C>T (p.Thr1934Ile) rs1205848223 0.00002
NM_001165963.4(SCN1A):c.5809C>G (p.Gln1937Glu) rs1358776988 0.00002
NM_001165963.4(SCN1A):c.5851G>T (p.Ala1951Ser) rs376656165 0.00002
NM_001165963.4(SCN1A):c.3098T>C (p.Phe1033Ser) rs796052992 0.00001
NM_001165963.4(SCN1A):c.3121A>G (p.Lys1041Glu) rs376649518 0.00001
NM_001165963.4(SCN1A):c.3233A>C (p.Asp1078Ala) rs758221668 0.00001
NM_001165963.4(SCN1A):c.3325C>A (p.Pro1109Thr) rs753452775 0.00001
NM_001165963.4(SCN1A):c.3355G>A (p.Val1119Ile) rs774410570 0.00001
NM_001165963.4(SCN1A):c.3407C>T (p.Ser1136Leu) rs746718015 0.00001
NM_001165963.4(SCN1A):c.3443G>A (p.Ser1148Asn) rs1213569051 0.00001
NM_001165963.4(SCN1A):c.3454T>A (p.Ser1152Thr) rs763254451 0.00001
NM_001165963.4(SCN1A):c.3500C>T (p.Pro1167Leu) rs1693179742 0.00001
NM_001165963.4(SCN1A):c.3556G>T (p.Val1186Leu) rs780607306 0.00001
NM_001165963.4(SCN1A):c.3719T>C (p.Ile1240Thr) rs776629634 0.00001
NM_001165963.4(SCN1A):c.3721T>C (p.Tyr1241His) rs922514173 0.00001
NM_001165963.4(SCN1A):c.3925C>T (p.Leu1309Phe) rs121918801 0.00001
NM_001165963.4(SCN1A):c.4171A>C (p.Asn1391His) rs1295072436 0.00001
NM_001165963.4(SCN1A):c.4231G>A (p.Val1411Met) rs1691042935 0.00001
NM_001165963.4(SCN1A):c.4524T>C (p.Tyr1508=) rs778620898 0.00001
NM_001165963.4(SCN1A):c.4588T>C (p.Phe1530Leu) rs1689724218 0.00001
NM_001165963.4(SCN1A):c.4628T>C (p.Phe1543Ser) rs121917992 0.00001
NM_001165963.4(SCN1A):c.4793A>T (p.Tyr1598Phe) rs377325221 0.00001
NM_001165963.4(SCN1A):c.4853-3dup rs1553520532 0.00001
NM_001165963.4(SCN1A):c.5452G>A (p.Asp1818Asn) rs747251662 0.00001
NM_001165963.4(SCN1A):c.5620C>T (p.Arg1874Trp) rs796053043 0.00001
NM_001165963.4(SCN1A):c.5735G>A (p.Arg1912Gln) rs373896263 0.00001
NM_001165963.4(SCN1A):c.5771G>A (p.Arg1924His) rs3749029 0.00001
NM_001165963.4(SCN1A):c.5852C>T (p.Ala1951Val) rs1057524816 0.00001
NM_001165963.4(SCN1A):c.5912A>G (p.Glu1971Gly) rs771936735 0.00001
NM_001165963.4(SCN1A):c.3092A>G (p.Tyr1031Cys) rs2105796301
NM_001165963.4(SCN1A):c.3110C>G (p.Ser1037Cys) rs1265022938
NM_001165963.4(SCN1A):c.3128A>T (p.Lys1043Met) rs1553540334
NM_001165963.4(SCN1A):c.3165CAA[1] (p.Asn1056del) rs796053069
NM_001165963.4(SCN1A):c.3166A>C (p.Asn1056His) rs746016312
NM_001165963.4(SCN1A):c.3172A>G (p.Lys1058Glu)
NM_001165963.4(SCN1A):c.3188C>T (p.Ser1063Phe) rs2105795201
NM_001165963.4(SCN1A):c.3266G>A (p.Gly1089Asp) rs2105794575
NM_001165963.4(SCN1A):c.3278A>G (p.Glu1093Gly)
NM_001165963.4(SCN1A):c.3372T>A (p.Phe1124Leu)
NM_001165963.4(SCN1A):c.3379T>G (p.Leu1127Val) rs1481310706
NM_001165963.4(SCN1A):c.3398G>T (p.Ser1133Ile) rs2105793124
NM_001165963.4(SCN1A):c.3405A>G (p.Glu1135=) rs796052954
NM_001165963.4(SCN1A):c.3457G>A (p.Glu1153Lys) rs1553534233
NM_001165963.4(SCN1A):c.3514G>A (p.Glu1172Lys) rs1553534085
NM_001165963.4(SCN1A):c.3542T>C (p.Phe1181Ser) rs2105628529
NM_001165963.4(SCN1A):c.3551-12_3551-11delinsGC rs2105612181
NM_001165963.4(SCN1A):c.3556G>A (p.Val1186Ile)
NM_001165963.4(SCN1A):c.3618C>A (p.Asn1206Lys) rs762734890
NM_001165963.4(SCN1A):c.3623G>A (p.Arg1208Lys) rs1559149025
NM_001165963.4(SCN1A):c.3632G>A (p.Cys1211Tyr) rs1574060743
NM_001165963.4(SCN1A):c.3637C>G (p.Arg1213Gly) rs794726710
NM_001165963.4(SCN1A):c.3650A>G (p.His1217Arg) rs796052996
NM_001165963.4(SCN1A):c.3697G>A (p.Gly1233Ser)
NM_001165963.4(SCN1A):c.3698G>A (p.Gly1233Asp) rs1553532470
NM_001165963.4(SCN1A):c.3740C>T (p.Thr1247Met)
NM_001165963.4(SCN1A):c.3772G>A (p.Val1258Ile) rs796052998
NM_001165963.4(SCN1A):c.4002+2454G>A
NM_001165963.4(SCN1A):c.4003-8T>G
NM_001165963.4(SCN1A):c.4018C>G (p.Leu1340Val) rs2105510551
NM_001165963.4(SCN1A):c.4107T>G (p.Phe1369Leu) rs2105509616
NM_001165963.4(SCN1A):c.4151G>A (p.Arg1384Lys)
NM_001165963.4(SCN1A):c.4159A>G (p.Ile1387Val) rs764507532
NM_001165963.4(SCN1A):c.4217C>A (p.Ala1406Asp) rs2105508284
NM_001165963.4(SCN1A):c.4285-4A>G rs796053007
NM_001165963.4(SCN1A):c.4338+5G>A rs796053011
NM_001165963.4(SCN1A):c.4339-3T>A rs1467483299
NM_001165963.4(SCN1A):c.4363G>A (p.Glu1455Lys) rs1131691600
NM_001165963.4(SCN1A):c.4369C>G (p.Leu1457Val) rs796053013
NM_001165963.4(SCN1A):c.4433T>G (p.Phe1478Cys) rs2105475961
NM_001165963.4(SCN1A):c.4499T>C (p.Met1500Thr) rs745687892
NM_001165963.4(SCN1A):c.4523A>G (p.Tyr1508Cys) rs2105462218
NM_001165963.4(SCN1A):c.4543G>A (p.Gly1515Arg) rs796053020
NM_001165963.4(SCN1A):c.4550A>G (p.Lys1517Arg) rs2105461833
NM_001165963.4(SCN1A):c.4555C>A (p.Pro1519Thr) rs796053021
NM_001165963.4(SCN1A):c.4580G>A (p.Gly1527Glu) rs751929295
NM_001165963.4(SCN1A):c.4582-3C>A rs747649993
NM_001165963.4(SCN1A):c.4584C>A (p.Asn1528Lys) rs398123597
NM_001165963.4(SCN1A):c.4651A>T (p.Ile1551Phe) rs1553521053
NM_001165963.4(SCN1A):c.4654T>C (p.Cys1552Arg)
NM_001165963.4(SCN1A):c.4672A>G (p.Met1558Val)
NM_001165963.4(SCN1A):c.4674G>A (p.Met1558Ile) rs796053023
NM_001165963.4(SCN1A):c.4699G>A (p.Glu1567Lys) rs1037225738
NM_001165963.4(SCN1A):c.4706T>C (p.Val1569Ala) rs2105448762
NM_001165963.4(SCN1A):c.4726A>G (p.Ile1576Val) rs1689696329
NM_001165963.4(SCN1A):c.4744G>C (p.Val1582Leu) rs779090130
NM_001165963.4(SCN1A):c.4765G>T (p.Val1589Leu) rs796053027
NM_001165963.4(SCN1A):c.4787G>A (p.Arg1596His) rs575368466
NM_001165963.4(SCN1A):c.4810T>C (p.Trp1604Arg) rs1573962964
NM_001165963.4(SCN1A):c.5044T>C (p.Phe1682Leu)
NM_001165963.4(SCN1A):c.5209A>G (p.Lys1737Glu) rs1553520293
NM_001165963.4(SCN1A):c.5326G>A (p.Val1776Ile) rs796053101
NM_001165963.4(SCN1A):c.5383G>A (p.Glu1795Lys) rs121918813
NM_001165963.4(SCN1A):c.5426A>G (p.Tyr1809Cys) rs1260877885
NM_001165963.4(SCN1A):c.5501C>T (p.Ala1834Val) rs780809852
NM_001165963.4(SCN1A):c.5525C>T (p.Pro1842Leu)
NM_001165963.4(SCN1A):c.5536A>G (p.Lys1846Glu) rs372098964
NM_001165963.4(SCN1A):c.5621G>A (p.Arg1874Gln) rs1060502186
NM_001165963.4(SCN1A):c.5621G>C (p.Arg1874Pro)
NM_001165963.4(SCN1A):c.5623G>T (p.Val1875Phe) rs2105425295
NM_001165963.4(SCN1A):c.5627T>C (p.Leu1876Pro) rs796053044
NM_001165963.4(SCN1A):c.5630G>A (p.Gly1877Glu)
NM_001165963.4(SCN1A):c.5632G>C (p.Glu1878Gln) rs148703212
NM_001165963.4(SCN1A):c.5635A>G (p.Ser1879Gly) rs2105425108
NM_001165963.4(SCN1A):c.5657G>A (p.Arg1886Gln) rs1559100385
NM_001165963.4(SCN1A):c.5665A>C (p.Met1889Leu)
NM_001165963.4(SCN1A):c.5677T>C (p.Phe1893Leu) rs1085307686
NM_001165963.4(SCN1A):c.5684C>A (p.Ala1895Asp) rs1039777371
NM_001165963.4(SCN1A):c.5693C>T (p.Pro1898Leu) rs2105424381
NM_001165963.4(SCN1A):c.5743G>A (p.Glu1915Lys) rs796053045
NM_001165963.4(SCN1A):c.5755G>C (p.Ala1919Pro) rs796053104
NM_001165963.4(SCN1A):c.5770_5790del (p.Arg1924_Leu1930del) rs796053088
NM_001165963.4(SCN1A):c.5773G>A (p.Ala1925Thr)
NM_001165963.4(SCN1A):c.5777A>G (p.Tyr1926Cys) rs376669368
NM_001165963.4(SCN1A):c.5787C>G (p.His1929Gln) rs371253263
NM_001165963.4(SCN1A):c.5797del (p.Arg1933fs) rs587780446
NM_001165963.4(SCN1A):c.5806A>G (p.Lys1936Glu) rs796053049
NM_001165963.4(SCN1A):c.5855_5857del (p.Asn1952_Leu1953delinsIle) rs1553519782
NM_001165963.4(SCN1A):c.5876T>C (p.Met1959Thr) rs1368302993
NM_001165963.4(SCN1A):c.5877_5879del (p.Met1959del) rs2105421697
NM_001165963.4(SCN1A):c.5881A>G (p.Ile1961Val)
NM_001165963.4(SCN1A):c.5888G>C (p.Arg1963Thr)
NM_001165963.4(SCN1A):c.5896G>T (p.Glu1966Ter) rs1057524615
NM_001165963.4(SCN1A):c.5911G>C (p.Glu1971Gln) rs1553519738
NM_001165963.4(SCN1A):c.5917dup (p.Thr1973fs) rs1480668529
NM_001165963.4(SCN1A):c.5956T>C (p.Tyr1986His) rs2105421114
NM_001165963.4(SCN1A):c.5972del (p.Lys1991fs) rs1388173033
NM_001165963.4(SCN1A):c.5975C>T (p.Pro1992Leu)
NM_001165963.4(SCN1A):c.6009_6013dup (p.Lys2005fs) rs1553519690
NM_001165963.4(SCN1A):c.6019A>G (p.Lys2007Glu) rs761426364
NM_001165963.4(SCN1A):c.6021A>T (p.Lys2007Asn) rs2105420299

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