ClinVar Miner

List of variants in gene combination LOC102724058, SCN1A reported by Ambry Genetics

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Total variants: 133
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HGVS dbSNP gnomAD frequency
NM_001165963.4(SCN1A):c.3199G>A (p.Ala1067Thr) rs2298771 0.73872
NM_001165963.4(SCN1A):c.3723T>C (p.Tyr1241=) rs36031496 0.03789
NM_001165963.4(SCN1A):c.5864T>C (p.Ile1955Thr) rs35735053 0.00876
NM_001165963.4(SCN1A):c.5418G>A (p.Glu1806=) rs140237315 0.00855
NM_001165963.4(SCN1A):c.4548G>A (p.Ser1516=) rs78041051 0.00175
NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser) rs121918799 0.00159
NM_001165963.4(SCN1A):c.3804T>C (p.Leu1268=) rs143980709 0.00159
NM_001165963.4(SCN1A):c.4393A>G (p.Ile1465Val) rs138231868 0.00121
NM_001165963.4(SCN1A):c.4731T>C (p.Asn1577=) rs145296488 0.00114
NM_001165963.4(SCN1A):c.3101T>C (p.Ile1034Thr) rs121918818 0.00084
NM_001165963.4(SCN1A):c.5951C>A (p.Pro1984His) rs146733308 0.00074
NM_001165963.4(SCN1A):c.3948G>A (p.Arg1316=) rs149579028 0.00073
NM_001165963.4(SCN1A):c.5782C>G (p.Arg1928Gly) rs121917956 0.00073
NM_001165963.4(SCN1A):c.3924A>T (p.Glu1308Asp) rs121917910 0.00070
NM_001165963.4(SCN1A):c.4872G>A (p.Leu1624=) rs142910512 0.00048
NM_001165963.4(SCN1A):c.4945C>T (p.Leu1649=) rs148546224 0.00047
NM_001165963.4(SCN1A):c.5286A>G (p.Gly1762=) rs150570058 0.00040
NM_001165963.4(SCN1A):c.5568G>A (p.Met1856Ile) rs144691638 0.00038
NM_001165963.4(SCN1A):c.3749C>T (p.Thr1250Met) rs140731963 0.00025
NM_001165963.4(SCN1A):c.3899C>T (p.Thr1300Ile) rs146878122 0.00019
NM_001165963.4(SCN1A):c.4129A>G (p.Ile1377Val) rs762317674 0.00016
NM_001165963.4(SCN1A):c.5870A>G (p.Glu1957Gly) rs121918802 0.00016
NM_001165963.4(SCN1A):c.3717T>C (p.Asp1239=) rs376579606 0.00015
NM_001165963.4(SCN1A):c.5217C>T (p.Pro1739=) rs149315236 0.00014
NM_001165963.4(SCN1A):c.5639G>A (p.Gly1880Glu) rs201905405 0.00011
NM_001165963.4(SCN1A):c.4557G>A (p.Pro1519=) rs368785509 0.00008
NM_001165963.4(SCN1A):c.4887C>T (p.Phe1629=) rs587780445 0.00008
NM_001165963.4(SCN1A):c.4317T>C (p.Tyr1439=) rs758014915 0.00007
NM_001165963.4(SCN1A):c.3481G>A (p.Ala1161Thr) rs201079458 0.00006
NM_001165963.4(SCN1A):c.4570C>A (p.Pro1524Thr) rs143088184 0.00006
NM_001165963.4(SCN1A):c.3166A>G (p.Asn1056Asp) rs746016312 0.00005
NM_001165963.4(SCN1A):c.4905C>T (p.Phe1635=) rs774858072 0.00005
NM_001165963.4(SCN1A):c.3726T>C (p.Ile1242=) rs760181074 0.00004
NM_001165963.4(SCN1A):c.4167C>T (p.Asp1389=) rs376118833 0.00004
NM_001165963.4(SCN1A):c.4556C>T (p.Pro1519Leu) rs372425457 0.00004
NM_001165963.4(SCN1A):c.4612G>A (p.Val1538Ile) rs780360360 0.00004
NM_001165963.4(SCN1A):c.4791T>C (p.His1597=) rs141051370 0.00004
NM_001165963.4(SCN1A):c.3387G>A (p.Thr1129=) rs375953445 0.00003
NM_001165963.4(SCN1A):c.3584A>G (p.Asn1195Ser) rs754010186 0.00003
NM_001165963.4(SCN1A):c.4162G>A (p.Glu1388Lys) rs775820803 0.00003
NM_001165963.4(SCN1A):c.4697G>A (p.Ser1566Asn) rs200263247 0.00003
NM_001165963.4(SCN1A):c.4834G>A (p.Val1612Ile) rs121918808 0.00003
NM_001165963.4(SCN1A):c.5349G>A (p.Ala1783=) rs369500022 0.00003
NM_001165963.4(SCN1A):c.5489A>C (p.Gln1830Pro) rs566595038 0.00003
NM_001165963.4(SCN1A):c.5655A>C (p.Leu1885=) rs746651472 0.00003
NM_001165963.4(SCN1A):c.3161T>G (p.Leu1054Arg) rs985473996 0.00002
NM_001165963.4(SCN1A):c.3165C>T (p.Asn1055=) rs797045939 0.00002
NM_001165963.4(SCN1A):c.3886T>C (p.Leu1296=) rs375896308 0.00002
NM_001165963.4(SCN1A):c.4923T>C (p.Ala1641=) rs369650500 0.00002
NM_001165963.4(SCN1A):c.5070C>T (p.Ser1690=) rs372367100 0.00002
NM_001165963.4(SCN1A):c.5277A>C (p.Pro1759=) rs1044871344 0.00002
NM_001165963.4(SCN1A):c.3120G>T (p.Arg1040Ser) rs1373733895 0.00001
NM_001165963.4(SCN1A):c.3152T>C (p.Leu1051Pro) rs776055539 0.00001
NM_001165963.4(SCN1A):c.3496C>A (p.Gln1166Lys) rs368609628 0.00001
NM_001165963.4(SCN1A):c.3556G>T (p.Val1186Leu) rs780607306 0.00001
NM_001165963.4(SCN1A):c.3573T>C (p.Cys1191=) rs750943685 0.00001
NM_001165963.4(SCN1A):c.3629C>T (p.Thr1210Met) rs121918738 0.00001
NM_001165963.4(SCN1A):c.3719T>C (p.Ile1240Thr) rs776629634 0.00001
NM_001165963.4(SCN1A):c.3776T>C (p.Phe1259Ser) rs398123591 0.00001
NM_001165963.4(SCN1A):c.4161C>T (p.Ile1387=) rs761168283 0.00001
NM_001165963.4(SCN1A):c.4171A>C (p.Asn1391His) rs1295072436 0.00001
NM_001165963.4(SCN1A):c.4574G>A (p.Arg1525Gln) rs1559114408 0.00001
NM_001165963.4(SCN1A):c.4717T>C (p.Leu1573=) rs1559110682 0.00001
NM_001165963.4(SCN1A):c.4793A>T (p.Tyr1598Phe) rs377325221 0.00001
NM_001165963.4(SCN1A):c.4848T>C (p.Ile1616=) rs1379533666 0.00001
NM_001165963.4(SCN1A):c.5452G>A (p.Asp1818Asn) rs747251662 0.00001
NM_001165963.4(SCN1A):c.5539C>G (p.Leu1847Val) rs1689187575 0.00001
NM_001165963.4(SCN1A):c.5735G>A (p.Arg1912Gln) rs373896263 0.00001
NM_001165963.4(SCN1A):c.5877G>T (p.Met1959Ile) rs763997333 0.00001
NM_001165963.4(SCN1A):c.5912A>G (p.Glu1971Gly) rs771936735 0.00001
NM_001165963.4(SCN1A):c.5995C>T (p.Gln1999Ter) rs933130550 0.00001
NM_001165963.4(SCN1A):c.3182G>T (p.Cys1061Phe)
NM_001165963.4(SCN1A):c.3191A>G (p.Asn1064Ser)
NM_001165963.4(SCN1A):c.3206T>C (p.Ile1069Thr)
NM_001165963.4(SCN1A):c.3217dup (p.Leu1073fs)
NM_001165963.4(SCN1A):c.3292del (p.Asp1098fs) rs1553540213
NM_001165963.4(SCN1A):c.3358G>A (p.Gly1120Arg)
NM_001165963.4(SCN1A):c.3358G>T (p.Gly1120Ter)
NM_001165963.4(SCN1A):c.3475A>G (p.Ile1159Val)
NM_001165963.4(SCN1A):c.3530C>G (p.Pro1177Arg) rs752060724
NM_001165963.4(SCN1A):c.3544A>G (p.Thr1182Ala)
NM_001165963.4(SCN1A):c.3615G>A (p.Trp1205Ter) rs794726720
NM_001165963.4(SCN1A):c.3637C>T (p.Arg1213Ter) rs794726710
NM_001165963.4(SCN1A):c.3665C>T (p.Thr1222Ile)
NM_001165963.4(SCN1A):c.3706-1G>A
NM_001165963.4(SCN1A):c.3718_3729del (p.Ile1240_Asp1243del) rs1574052546
NM_001165963.4(SCN1A):c.3733C>T (p.Arg1245Ter) rs727504136
NM_001165963.4(SCN1A):c.3813G>A (p.Trp1271Ter)
NM_001165963.4(SCN1A):c.3827A>T (p.Tyr1276Phe) rs1692552933
NM_001165963.4(SCN1A):c.3968C>A (p.Pro1323His) rs1057521746
NM_001165963.4(SCN1A):c.3985C>T (p.Arg1329Ter) rs796053004
NM_001165963.4(SCN1A):c.4003G>A (p.Val1335Met) rs121917960
NM_001165963.4(SCN1A):c.4013A>C (p.Asn1338Thr) rs797044952
NM_001165963.4(SCN1A):c.4093G>T (p.Gly1365Cys)
NM_001165963.4(SCN1A):c.4154T>G (p.Phe1385Cys)
NM_001165963.4(SCN1A):c.4168G>A (p.Val1390Met) rs121917986
NM_001165963.4(SCN1A):c.4219C>T (p.Arg1407Ter) rs398123593
NM_001165963.4(SCN1A):c.4250A>T (p.Asn1417Ile) rs1691038762
NM_001165963.4(SCN1A):c.4285-4A>G rs796053007
NM_001165963.4(SCN1A):c.4294A>G (p.Lys1432Glu) rs1553523204
NM_001165963.4(SCN1A):c.4301G>A (p.Trp1434Ter) rs1559122263
NM_001165963.4(SCN1A):c.4321G>C (p.Ala1441Pro) rs121917974
NM_001165963.4(SCN1A):c.4327G>C (p.Asp1443His)
NM_001165963.4(SCN1A):c.4329T>C (p.Asp1443=)
NM_001165963.4(SCN1A):c.4338+1G>C rs1553523138
NM_001165963.4(SCN1A):c.4384T>C (p.Tyr1462His) rs1559119345
NM_001165963.4(SCN1A):c.4391T>C (p.Val1464Ala)
NM_001165963.4(SCN1A):c.4450_4453del (p.Asp1484fs) rs1559118996
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.4550A>G (p.Lys1517Arg) rs2105461833
NM_001165963.4(SCN1A):c.4551A>G (p.Lys1517=) rs374087499
NM_001165963.4(SCN1A):c.4555C>A (p.Pro1519Thr) rs796053021
NM_001165963.4(SCN1A):c.4847T>C (p.Ile1616Thr) rs2105447247
NM_001165963.4(SCN1A):c.4852+1G>A rs1573962555
NM_001165963.4(SCN1A):c.4907G>A (p.Arg1636Gln) rs121917995
NM_001165963.4(SCN1A):c.4934G>A (p.Arg1645Gln) rs121917976
NM_001165963.4(SCN1A):c.4985C>T (p.Ala1662Val) rs794726839
NM_001165963.4(SCN1A):c.5131G>A (p.Gly1711Ser) rs796053098
NM_001165963.4(SCN1A):c.5174_5179del (p.Gly1725_Trp1726del)
NM_001165963.4(SCN1A):c.5218G>A (p.Asp1740Asn) rs796053035
NM_001165963.4(SCN1A):c.5306A>G (p.Tyr1769Cys) rs886039460
NM_001165963.4(SCN1A):c.5316A>G (p.Ile1772Met)
NM_001165963.4(SCN1A):c.5404G>A (p.Glu1802Lys) rs794726780
NM_001165963.4(SCN1A):c.5479A>T (p.Lys1827Ter) rs1553520105
NM_001165963.4(SCN1A):c.5536_5539del (p.Lys1846fs) rs794726726
NM_001165963.4(SCN1A):c.5582G>A (p.Arg1861Gln) rs796053042
NM_001165963.4(SCN1A):c.5591G>C (p.Cys1864Ser)
NM_001165963.4(SCN1A):c.5634G>C (p.Glu1878Asp) rs748090629
NM_001165963.4(SCN1A):c.5666T>G (p.Met1889Arg) rs1197551054
NM_001165963.4(SCN1A):c.5777A>G (p.Tyr1926Cys) rs376669368
NM_001165963.4(SCN1A):c.5845G>A (p.Gly1949Ser)
NM_001165963.4(SCN1A):c.5944T>C (p.Cys1982Arg)

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