ClinVar Miner

List of variants in gene combination LOC102724058, SCN1A reported as likely benign for central nervous system disorder

Included ClinVar conditions (2498):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 500
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001165963.4(SCN1A):c.*1025T>C rs10497275 0.13322
NM_001165963.4(SCN1A):c.*1961C>T rs7577411 0.08473
NM_001165963.4(SCN1A):c.*1693A>G rs7591522 0.03977
NM_001165963.4(SCN1A):c.3723T>C (p.Tyr1241=) rs36031496 0.03789
NM_001165963.4(SCN1A):c.*172dup rs113696479 0.03631
NM_001165963.4(SCN1A):c.*1224G>A rs77088538 0.01643
NM_001165963.4(SCN1A):c.*1653C>T rs79971813 0.01291
NM_001165963.4(SCN1A):c.*1031A>T rs114522414 0.00876
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.*1952T>C rs184794128 0.00627
NM_001165963.4(SCN1A):c.*1864T>A rs150155252 0.00341
NM_001165963.4(SCN1A):c.*588A>G rs539073575 0.00258
NM_001165963.4(SCN1A):c.*677G>A rs142037381 0.00181
NM_001165963.4(SCN1A):c.3705+12T>G rs147032678 0.00181
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.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.5568G>A (p.Met1856Ile) rs144691638 0.00038
NM_001165963.4(SCN1A):c.3749C>T (p.Thr1250Met) rs140731963 0.00025
NM_001165963.4(SCN1A):c.4002+2112T>C rs528876785 0.00024
NM_001165963.4(SCN1A):c.4002+2053T>C rs541854992 0.00022
NM_001165963.4(SCN1A):c.*1795G>A rs189183531 0.00021
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.3717T>C (p.Asp1239=) rs376579606 0.00015
NM_001165963.4(SCN1A):c.3591A>G (p.Glu1197=) rs371596040 0.00014
NM_001165963.4(SCN1A):c.4002+2640A>C rs534632576 0.00014
NM_001165963.4(SCN1A):c.5217C>T (p.Pro1739=) rs149315236 0.00014
NM_001165963.4(SCN1A):c.3498G>A (p.Gln1166=) rs145410000 0.00011
NM_001165963.4(SCN1A):c.4002+2621C>T rs1165497884 0.00011
NM_001165963.4(SCN1A):c.5639G>A (p.Gly1880Glu) rs201905405 0.00011
NM_001165963.4(SCN1A):c.4002+2535T>A rs766365175 0.00010
NM_001165963.4(SCN1A):c.4906C>A (p.Arg1636=) rs199727342 0.00010
NM_001165963.4(SCN1A):c.3931G>A (p.Ala1311Thr) rs549152510 0.00009
NM_001165963.4(SCN1A):c.4002+2048C>T rs890146293 0.00009
NM_001165963.4(SCN1A):c.4002+2121A>G rs1036524256 0.00009
NM_001165963.4(SCN1A):c.3706-20G>A rs187973818 0.00008
NM_001165963.4(SCN1A):c.3714A>C (p.Glu1238Asp) rs121917973 0.00008
NM_001165963.4(SCN1A):c.4002+2213C>T rs930950827 0.00008
NM_001165963.4(SCN1A):c.4002+2540T>C rs960944425 0.00008
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.3732G>A (p.Gln1244=) rs369688121 0.00006
NM_001165963.4(SCN1A):c.4002+2247A>C rs920922978 0.00006
NM_001165963.4(SCN1A):c.4724G>A (p.Arg1575His) rs368834365 0.00006
NM_001165963.4(SCN1A):c.4852+17G>A rs562963222 0.00006
NM_001165963.4(SCN1A):c.3166A>G (p.Asn1056Asp) rs746016312 0.00005
NM_001165963.4(SCN1A):c.3330T>C (p.Ser1110=) rs587781145 0.00005
NM_001165963.4(SCN1A):c.3429+19G>C rs945969546 0.00004
NM_001165963.4(SCN1A):c.3585T>C (p.Asn1195=) rs138181528 0.00004
NM_001165963.4(SCN1A):c.3726T>C (p.Ile1242=) rs760181074 0.00004
NM_001165963.4(SCN1A):c.3879+10G>A rs202002728 0.00004
NM_001165963.4(SCN1A):c.4002+2150T>A rs569906674 0.00004
NM_001165963.4(SCN1A):c.4002+2372C>T rs996059069 0.00004
NM_001165963.4(SCN1A):c.4002+2374del rs1260713650 0.00004
NM_001165963.4(SCN1A):c.4167C>T (p.Asp1389=) rs376118833 0.00004
NM_001165963.4(SCN1A):c.4345C>T (p.Leu1449Phe) rs768638174 0.00004
NM_001165963.4(SCN1A):c.4452T>C (p.Asp1484=) rs1349846696 0.00004
NM_001165963.4(SCN1A):c.4556C>T (p.Pro1519Leu) rs372425457 0.00004
NM_001165963.4(SCN1A):c.4791T>C (p.His1597=) rs141051370 0.00004
NM_001165963.4(SCN1A):c.5007G>A (p.Ala1669=) rs750366817 0.00004
NM_001165963.4(SCN1A):c.5547C>G (p.Leu1849=) rs140529318 0.00004
NM_001165963.4(SCN1A):c.5823G>A (p.Thr1941=) rs754371368 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.3752T>C (p.Met1251Thr) rs749638533 0.00003
NM_001165963.4(SCN1A):c.4162G>A (p.Glu1388Lys) rs775820803 0.00003
NM_001165963.4(SCN1A):c.4209T>C (p.Asn1403=) rs1176622466 0.00003
NM_001165963.4(SCN1A):c.4339-12C>G rs776548109 0.00003
NM_001165963.4(SCN1A):c.4547C>T (p.Ser1516Leu) rs139300715 0.00003
NM_001165963.4(SCN1A):c.4582-12A>G rs752455718 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.5655A>C (p.Leu1885=) rs746651472 0.00003
NM_001165963.4(SCN1A):c.5763T>C (p.Ile1921=) rs767698089 0.00003
NM_001165963.4(SCN1A):c.5988A>C (p.Lys1996Asn) rs371243629 0.00003
NM_001165963.4(SCN1A):c.3165C>T (p.Asn1055=) rs797045939 0.00002
NM_001165963.4(SCN1A):c.3276T>G (p.Val1092=) rs895560193 0.00002
NM_001165963.4(SCN1A):c.3450C>T (p.Ser1150=) rs727504137 0.00002
NM_001165963.4(SCN1A):c.3502G>A (p.Val1168Ile) rs146374754 0.00002
NM_001165963.4(SCN1A):c.3550+16C>T rs1000651886 0.00002
NM_001165963.4(SCN1A):c.3597C>T (p.Gly1199=) rs376901032 0.00002
NM_001165963.4(SCN1A):c.3638G>A (p.Arg1213Gln) rs566081370 0.00002
NM_001165963.4(SCN1A):c.3879+9C>T rs570092799 0.00002
NM_001165963.4(SCN1A):c.3978C>T (p.Ala1326=) rs150831315 0.00002
NM_001165963.4(SCN1A):c.4002+2084A>G rs1355573329 0.00002
NM_001165963.4(SCN1A):c.4002+2370T>C rs1188572792 0.00002
NM_001165963.4(SCN1A):c.4002+2494T>C rs1057202299 0.00002
NM_001165963.4(SCN1A):c.4002+8A>G rs762574934 0.00002
NM_001165963.4(SCN1A):c.4095C>T (p.Gly1365=) rs372749240 0.00002
NM_001165963.4(SCN1A):c.4284+7G>A rs745918943 0.00002
NM_001165963.4(SCN1A):c.5028A>G (p.Leu1676=) rs763806559 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.5787C>T (p.His1929=) rs371253263 0.00002
NM_001165963.4(SCN1A):c.5809C>G (p.Gln1937Glu) rs1358776988 0.00002
NM_001165963.4(SCN1A):c.5874C>T (p.Asp1958=) rs951275940 0.00002
NM_001165963.4(SCN1A):c.3118A>C (p.Arg1040=) rs370793418 0.00001
NM_001165963.4(SCN1A):c.3120G>T (p.Arg1040Ser) rs1373733895 0.00001
NM_001165963.4(SCN1A):c.3176A>T (p.Asp1059Val) rs779306054 0.00001
NM_001165963.4(SCN1A):c.3195T>C (p.His1065=) rs145219358 0.00001
NM_001165963.4(SCN1A):c.3224A>G (p.Tyr1075Cys) rs1226603266 0.00001
NM_001165963.4(SCN1A):c.3225T>C (p.Tyr1075=) rs1358367140 0.00001
NM_001165963.4(SCN1A):c.3246T>C (p.Thr1082=) rs961517010 0.00001
NM_001165963.4(SCN1A):c.3357A>G (p.Val1119=) rs771222969 0.00001
NM_001165963.4(SCN1A):c.3408G>A (p.Ser1136=) rs181995339 0.00001
NM_001165963.4(SCN1A):c.3435G>A (p.Leu1145=) rs371910801 0.00001
NM_001165963.4(SCN1A):c.3496C>A (p.Gln1166Lys) rs368609628 0.00001
NM_001165963.4(SCN1A):c.3501C>T (p.Pro1167=) rs769635347 0.00001
NM_001165963.4(SCN1A):c.3525T>G (p.Leu1175=) rs1057524122 0.00001
NM_001165963.4(SCN1A):c.3551-3C>T rs1225446966 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.3576T>C (p.Cys1192=) rs150638891 0.00001
NM_001165963.4(SCN1A):c.3630G>A (p.Thr1210=) rs377326177 0.00001
NM_001165963.4(SCN1A):c.3651T>C (p.His1217=) rs538655845 0.00001
NM_001165963.4(SCN1A):c.3741G>A (p.Thr1247=) rs200745708 0.00001
NM_001165963.4(SCN1A):c.3807A>C (p.Leu1269=) rs1359405350 0.00001
NM_001165963.4(SCN1A):c.3888G>A (p.Leu1296=) rs998325208 0.00001
NM_001165963.4(SCN1A):c.4002+2023A>G rs1052506764 0.00001
NM_001165963.4(SCN1A):c.4002+2199G>C rs1048104424 0.00001
NM_001165963.4(SCN1A):c.4002+2214G>A rs1414799202 0.00001
NM_001165963.4(SCN1A):c.4002+2336G>A rs147529489 0.00001
NM_001165963.4(SCN1A):c.4002+2360A>G rs1029107872 0.00001
NM_001165963.4(SCN1A):c.4002+2374G>A rs899082987 0.00001
NM_001165963.4(SCN1A):c.4002+2381C>T rs537142789 0.00001
NM_001165963.4(SCN1A):c.4002+2407A>G rs1191367818 0.00001
NM_001165963.4(SCN1A):c.4002+2436C>T rs1272621179 0.00001
NM_001165963.4(SCN1A):c.4002+2510C>T rs1574028087 0.00001
NM_001165963.4(SCN1A):c.4002+2561T>C rs762618716 0.00001
NM_001165963.4(SCN1A):c.4002+2568G>A rs980081654 0.00001
NM_001165963.4(SCN1A):c.4003-18T>C rs1305983184 0.00001
NM_001165963.4(SCN1A):c.4125C>T (p.His1375=) rs370788427 0.00001
NM_001165963.4(SCN1A):c.4143T>G (p.Thr1381=) rs1240740243 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.4284+14A>G rs370074740 0.00001
NM_001165963.4(SCN1A):c.4284+19C>A rs1383995139 0.00001
NM_001165963.4(SCN1A):c.4338+12T>C rs761062999 0.00001
NM_001165963.4(SCN1A):c.4386C>T (p.Tyr1462=) rs587781146 0.00001
NM_001165963.4(SCN1A):c.4477-6C>G rs1470740998 0.00001
NM_001165963.4(SCN1A):c.4524T>C (p.Tyr1508=) rs778620898 0.00001
NM_001165963.4(SCN1A):c.4581+10A>G rs766780193 0.00001
NM_001165963.4(SCN1A):c.4581+12C>T rs886055042 0.00001
NM_001165963.4(SCN1A):c.4582-11T>C rs377533926 0.00001
NM_001165963.4(SCN1A):c.4582-19C>T rs1246767396 0.00001
NM_001165963.4(SCN1A):c.4659T>G (p.Leu1553=) rs764244249 0.00001
NM_001165963.4(SCN1A):c.4668C>A (p.Val1556=) rs774376498 0.00001
NM_001165963.4(SCN1A):c.4717T>C (p.Leu1573=) rs1559110682 0.00001
NM_001165963.4(SCN1A):c.4788C>T (p.Arg1596=) rs762836573 0.00001
NM_001165963.4(SCN1A):c.4848T>C (p.Ile1616=) rs1379533666 0.00001
NM_001165963.4(SCN1A):c.4896T>C (p.Pro1632=) rs1689370353 0.00001
NM_001165963.4(SCN1A):c.4941A>G (p.Leu1647=) rs770111331 0.00001
NM_001165963.4(SCN1A):c.5052C>T (p.Tyr1684=) rs1433806086 0.00001
NM_001165963.4(SCN1A):c.5064G>T (p.Gly1688=) rs752375814 0.00001
NM_001165963.4(SCN1A):c.5104G>A (p.Asp1702Asn) rs748333147 0.00001
NM_001165963.4(SCN1A):c.5151A>G (p.Leu1717=) rs1177078569 0.00001
NM_001165963.4(SCN1A):c.5169T>G (p.Ser1723=) rs1168333541 0.00001
NM_001165963.4(SCN1A):c.5202C>T (p.Leu1734=) rs140664455 0.00001
NM_001165963.4(SCN1A):c.5346C>T (p.Ile1782=) rs121918763 0.00001
NM_001165963.4(SCN1A):c.5430G>A (p.Glu1810=) rs765676433 0.00001
NM_001165963.4(SCN1A):c.5433T>C (p.Val1811=) rs762310676 0.00001
NM_001165963.4(SCN1A):c.5451C>T (p.Pro1817=) rs776991363 0.00001
NM_001165963.4(SCN1A):c.5502G>A (p.Ala1834=) rs754566611 0.00001
NM_001165963.4(SCN1A):c.5511G>A (p.Pro1837=) rs1689194398 0.00001
NM_001165963.4(SCN1A):c.5532A>G (p.Pro1844=) rs886043063 0.00001
NM_001165963.4(SCN1A):c.5601C>T (p.Ile1867=) rs1573944589 0.00001
NM_001165963.4(SCN1A):c.5656C>A (p.Arg1886=) rs779614747 0.00001
NM_001165963.4(SCN1A):c.5673G>A (p.Glu1891=) rs1457641968 0.00001
NM_001165963.4(SCN1A):c.5766T>C (p.Ile1922=) rs587781149 0.00001
NM_001165963.4(SCN1A):c.5802T>C (p.Thr1934=) rs1391765490 0.00001
NM_001165963.4(SCN1A):c.5813C>T (p.Ala1938Val) rs915676341 0.00001
NM_001165963.4(SCN1A):c.5877G>T (p.Met1959Ile) rs763997333 0.00001
NM_001165963.4(SCN1A):c.5970A>C (p.Thr1990=) rs1295648726 0.00001
NM_001165963.4(SCN1A):c.6024G>A (p.Gly2008=) rs370049341 0.00001
NM_001165963.1(SCN1A):c.4853-110_4853-108delins129
NM_001165963.4(SCN1A):c.3111C>A (p.Ser1037=) rs1204620691
NM_001165963.4(SCN1A):c.3144T>C (p.Ile1048=)
NM_001165963.4(SCN1A):c.3150A>G (p.Pro1050=)
NM_001165963.4(SCN1A):c.3165C>A (p.Asn1055Lys) rs797045939
NM_001165963.4(SCN1A):c.3201A>C (p.Ala1067=) rs1376202812
NM_001165963.4(SCN1A):c.3201A>G (p.Ala1067=)
NM_001165963.4(SCN1A):c.3215A>G (p.Asp1072Gly) rs1553540263
NM_001165963.4(SCN1A):c.3264T>C (p.Thr1088=) rs1696342389
NM_001165963.4(SCN1A):c.3324C>T (p.Asn1108=) rs2105794049
NM_001165963.4(SCN1A):c.3342T>C (p.Thr1114=)
NM_001165963.4(SCN1A):c.3342T>G (p.Thr1114=) rs904226939
NM_001165963.4(SCN1A):c.3345A>T (p.Val1115=) rs759998380
NM_001165963.4(SCN1A):c.3372T>G (p.Phe1124Leu) rs1424688990
NM_001165963.4(SCN1A):c.3396T>C (p.Phe1132=)
NM_001165963.4(SCN1A):c.3405A>G (p.Glu1135=) rs796052954
NM_001165963.4(SCN1A):c.3423C>T (p.Ser1141=) rs1696301764
NM_001165963.4(SCN1A):c.3429+14G>C rs1462589860
NM_001165963.4(SCN1A):c.3429+20G>A
NM_001165963.4(SCN1A):c.3430-13A>C
NM_001165963.4(SCN1A):c.3430-18T>C
NM_001165963.4(SCN1A):c.3430-6T>C
NM_001165963.4(SCN1A):c.3430-7C>A rs975085305
NM_001165963.4(SCN1A):c.3449G>A (p.Ser1150Asn)
NM_001165963.4(SCN1A):c.3462T>C (p.Gly1154=) rs2105630006
NM_001165963.4(SCN1A):c.3480C>A (p.Gly1160=) rs369594817
NM_001165963.4(SCN1A):c.3480C>T (p.Gly1160=) rs369594817
NM_001165963.4(SCN1A):c.3483A>C (p.Ala1161=)
NM_001165963.4(SCN1A):c.3504A>G (p.Val1168=)
NM_001165963.4(SCN1A):c.3506T>G (p.Val1169Gly) rs1380673643
NM_001165963.4(SCN1A):c.3550+18A>C rs866995453
NM_001165963.4(SCN1A):c.3550+18A>G
NM_001165963.4(SCN1A):c.3550+20T>C rs1693162810
NM_001165963.4(SCN1A):c.3550+8A>C
NM_001165963.4(SCN1A):c.3551-12C>T rs1692905818
NM_001165963.4(SCN1A):c.3551-18T>C
NM_001165963.4(SCN1A):c.3552C>T (p.Gly1184=) rs1574061760
NM_001165963.4(SCN1A):c.3582C>T (p.Ile1194=) rs2105611470
NM_001165963.4(SCN1A):c.3609A>G (p.Gln1203=) rs2105611013
NM_001165963.4(SCN1A):c.3618C>T (p.Asn1206=)
NM_001165963.4(SCN1A):c.3621G>T (p.Leu1207=)
NM_001165963.4(SCN1A):c.3669C>T (p.Phe1223=) rs1574060392
NM_001165963.4(SCN1A):c.3684T>A (p.Ile1228=)
NM_001165963.4(SCN1A):c.3705+18A>G
NM_001165963.4(SCN1A):c.3706-14C>T rs1692589493
NM_001165963.4(SCN1A):c.3706-18G>A
NM_001165963.4(SCN1A):c.3706-3T>C rs1281873956
NM_001165963.4(SCN1A):c.3724A>G (p.Ile1242Val) rs2105593894
NM_001165963.4(SCN1A):c.3750G>T (p.Thr1250=) rs771494149
NM_001165963.4(SCN1A):c.3762T>C (p.Tyr1254=)
NM_001165963.4(SCN1A):c.3768C>T (p.Asp1256=) rs2105593083
NM_001165963.4(SCN1A):c.3774T>G (p.Val1258=)
NM_001165963.4(SCN1A):c.3783C>T (p.Tyr1261=)
NM_001165963.4(SCN1A):c.3793C>T (p.Leu1265=)
NM_001165963.4(SCN1A):c.3822T>C (p.Tyr1274=)
NM_001165963.4(SCN1A):c.3834A>G (p.Thr1278=) rs757206525
NM_001165963.4(SCN1A):c.3846T>C (p.Asn1282=)
NM_001165963.4(SCN1A):c.3879+12T>A
NM_001165963.4(SCN1A):c.3879+19T>C
NM_001165963.4(SCN1A):c.3880-10G>C rs886055043
NM_001165963.4(SCN1A):c.3880-15T>C
NM_001165963.4(SCN1A):c.3885A>T (p.Ser1295=)
NM_001165963.4(SCN1A):c.3886T>A (p.Leu1296Met) rs375896308
NM_001165963.4(SCN1A):c.3951A>G (p.Thr1317=)
NM_001165963.4(SCN1A):c.3954A>G (p.Leu1318=) rs2105570166
NM_001165963.4(SCN1A):c.3961C>T (p.Leu1321=) rs2105570052
NM_001165963.4(SCN1A):c.3996G>A (p.Gly1332=)
NM_001165963.4(SCN1A):c.4002+14A>C
NM_001165963.4(SCN1A):c.4002+1960A>G
NM_001165963.4(SCN1A):c.4002+1965C>T rs2105551111
NM_001165963.4(SCN1A):c.4002+1979G>A
NM_001165963.4(SCN1A):c.4002+1983T>C
NM_001165963.4(SCN1A):c.4002+1985del rs2105550969
NM_001165963.4(SCN1A):c.4002+1992T>C
NM_001165963.4(SCN1A):c.4002+1997C>T
NM_001165963.4(SCN1A):c.4002+19C>T rs1692150049
NM_001165963.4(SCN1A):c.4002+2005G>A
NM_001165963.4(SCN1A):c.4002+2008C>T
NM_001165963.4(SCN1A):c.4002+2022T>C
NM_001165963.4(SCN1A):c.4002+2025T>G
NM_001165963.4(SCN1A):c.4002+2033G>C
NM_001165963.4(SCN1A):c.4002+2042A>G
NM_001165963.4(SCN1A):c.4002+2044A>G
NM_001165963.4(SCN1A):c.4002+2051G>C
NM_001165963.4(SCN1A):c.4002+2057_4002+2059del rs1192335240
NM_001165963.4(SCN1A):c.4002+2062A>G rs1691837819
NM_001165963.4(SCN1A):c.4002+2063G>T rs2105550345
NM_001165963.4(SCN1A):c.4002+2070A>G
NM_001165963.4(SCN1A):c.4002+2073A>C
NM_001165963.4(SCN1A):c.4002+2076_4002+2079del rs1259590393
NM_001165963.4(SCN1A):c.4002+2085_4002+2087del
NM_001165963.4(SCN1A):c.4002+2089G>A
NM_001165963.4(SCN1A):c.4002+2089G>T rs539034474
NM_001165963.4(SCN1A):c.4002+2095C>T
NM_001165963.4(SCN1A):c.4002+2097T>C rs2105550019
NM_001165963.4(SCN1A):c.4002+2098T>C rs182825244
NM_001165963.4(SCN1A):c.4002+2098T>G
NM_001165963.4(SCN1A):c.4002+2098del rs768145184
NM_001165963.4(SCN1A):c.4002+2099G>T
NM_001165963.4(SCN1A):c.4002+20C>T
NM_001165963.4(SCN1A):c.4002+2107C>T rs2105549912
NM_001165963.4(SCN1A):c.4002+2109T>C
NM_001165963.4(SCN1A):c.4002+2118C>T rs2105549796
NM_001165963.4(SCN1A):c.4002+2119A>G
NM_001165963.4(SCN1A):c.4002+2128G>T
NM_001165963.4(SCN1A):c.4002+2130T>C
NM_001165963.4(SCN1A):c.4002+2144C>T
NM_001165963.4(SCN1A):c.4002+2147T>G
NM_001165963.4(SCN1A):c.4002+2151T>C rs2105549480
NM_001165963.4(SCN1A):c.4002+2155T>C
NM_001165963.4(SCN1A):c.4002+2161A>G rs886825546
NM_001165963.4(SCN1A):c.4002+2171C>A
NM_001165963.4(SCN1A):c.4002+2182A>G
NM_001165963.4(SCN1A):c.4002+2184T>C
NM_001165963.4(SCN1A):c.4002+2184T>G
NM_001165963.4(SCN1A):c.4002+2203G>A rs1375615632
NM_001165963.4(SCN1A):c.4002+2206T>A rs927311502
NM_001165963.4(SCN1A):c.4002+2206T>C rs927311502
NM_001165963.4(SCN1A):c.4002+2213_4002+2215del
NM_001165963.4(SCN1A):c.4002+2242T>C
NM_001165963.4(SCN1A):c.4002+2253G>A
NM_001165963.4(SCN1A):c.4002+2260T>C
NM_001165963.4(SCN1A):c.4002+2261A>G
NM_001165963.4(SCN1A):c.4002+2264T>C
NM_001165963.4(SCN1A):c.4002+2267C>T rs1009086858
NM_001165963.4(SCN1A):c.4002+2272C>G rs2105548669
NM_001165963.4(SCN1A):c.4002+2273T>C
NM_001165963.4(SCN1A):c.4002+2276G>C
NM_001165963.4(SCN1A):c.4002+2281_4002+2287del
NM_001165963.4(SCN1A):c.4002+2289C>A
NM_001165963.4(SCN1A):c.4002+2298T>C
NM_001165963.4(SCN1A):c.4002+2304G>T
NM_001165963.4(SCN1A):c.4002+2305_4002+2312dup rs2105548367
NM_001165963.4(SCN1A):c.4002+2310_4002+2311dup
NM_001165963.4(SCN1A):c.4002+2320G>A rs577323922
NM_001165963.4(SCN1A):c.4002+2342C>T
NM_001165963.4(SCN1A):c.4002+2347T>C
NM_001165963.4(SCN1A):c.4002+2347T>G rs1476753090
NM_001165963.4(SCN1A):c.4002+2349A>T rs2105547965
NM_001165963.4(SCN1A):c.4002+2352A>C rs2105547919
NM_001165963.4(SCN1A):c.4002+2358T>C
NM_001165963.4(SCN1A):c.4002+2361C>T rs2105547851
NM_001165963.4(SCN1A):c.4002+2364C>T
NM_001165963.4(SCN1A):c.4002+2369G>A
NM_001165963.4(SCN1A):c.4002+2388CTAA[3]
NM_001165963.4(SCN1A):c.4002+2393T>C rs2105547616
NM_001165963.4(SCN1A):c.4002+2395_4002+2398dup
NM_001165963.4(SCN1A):c.4002+2401A>G
NM_001165963.4(SCN1A):c.4002+2404T>C rs754877109
NM_001165963.4(SCN1A):c.4002+2407A>C
NM_001165963.4(SCN1A):c.4002+2410T>C
NM_001165963.4(SCN1A):c.4002+2420G>A
NM_001165963.4(SCN1A):c.4002+2421T>C
NM_001165963.4(SCN1A):c.4002+2430_4002+2432dup rs2105547380
NM_001165963.4(SCN1A):c.4002+2439C>A rs2105547332
NM_001165963.4(SCN1A):c.4002+2450G>A
NM_001165963.4(SCN1A):c.4002+2458C>T rs2105547203
NM_001165963.4(SCN1A):c.4002+2459G>A
NM_001165963.4(SCN1A):c.4002+2467C>T
NM_001165963.4(SCN1A):c.4002+2499T>C
NM_001165963.4(SCN1A):c.4002+2499T>G
NM_001165963.4(SCN1A):c.4002+2501C>T
NM_001165963.4(SCN1A):c.4002+2509G>A
NM_001165963.4(SCN1A):c.4002+2510del
NM_001165963.4(SCN1A):c.4002+2519A>G
NM_001165963.4(SCN1A):c.4002+2532G>A
NM_001165963.4(SCN1A):c.4002+2537A>T
NM_001165963.4(SCN1A):c.4002+2538T>C
NM_001165963.4(SCN1A):c.4002+2544G>C
NM_001165963.4(SCN1A):c.4002+2545T>C
NM_001165963.4(SCN1A):c.4002+2548G>T
NM_001165963.4(SCN1A):c.4002+2557G>T
NM_001165963.4(SCN1A):c.4002+2563G>A
NM_001165963.4(SCN1A):c.4002+2565G>A
NM_001165963.4(SCN1A):c.4002+2569G>T
NM_001165963.4(SCN1A):c.4002+2576T>C
NM_001165963.4(SCN1A):c.4002+2577T>A rs1691773795
NM_001165963.4(SCN1A):c.4002+2579T>A rs947601907
NM_001165963.4(SCN1A):c.4002+2579T>C
NM_001165963.4(SCN1A):c.4002+2588A>C
NM_001165963.4(SCN1A):c.4002+2589G>A
NM_001165963.4(SCN1A):c.4002+2590T>C rs1574027484
NM_001165963.4(SCN1A):c.4002+2592G>A
NM_001165963.4(SCN1A):c.4002+2600A>C
NM_001165963.4(SCN1A):c.4002+2600A>G
NM_001165963.4(SCN1A):c.4002+2614C>T
NM_001165963.4(SCN1A):c.4002+2623T>C rs2105545931
NM_001165963.4(SCN1A):c.4002+2624C>G
NM_001165963.4(SCN1A):c.4002+2627_4002+2628del rs1462666494
NM_001165963.4(SCN1A):c.4002+2634G>A
NM_001165963.4(SCN1A):c.4002+2635T>C
NM_001165963.4(SCN1A):c.4002+2636C>T
NM_001165963.4(SCN1A):c.4002+2649T>G
NM_001165963.4(SCN1A):c.4002+2649del
NM_001165963.4(SCN1A):c.4003-14C>T rs1241008825
NM_001165963.4(SCN1A):c.4003-6T>G
NM_001165963.4(SCN1A):c.4003-7G>A rs1334990688
NM_001165963.4(SCN1A):c.4005G>A (p.Val1335=)
NM_001165963.4(SCN1A):c.4017C>T (p.Ala1339=) rs2105510596
NM_001165963.4(SCN1A):c.4020T>C (p.Leu1340=) rs1691091194
NM_001165963.4(SCN1A):c.4035A>G (p.Pro1345=)
NM_001165963.4(SCN1A):c.4050G>A (p.Val1350=) rs2105510228
NM_001165963.4(SCN1A):c.4095C>G (p.Gly1365=) rs372749240
NM_001165963.4(SCN1A):c.4104G>A (p.Leu1368=)
NM_001165963.4(SCN1A):c.4119C>T (p.Phe1373=) rs2105509444
NM_001165963.4(SCN1A):c.4134C>T (p.Asn1378=)
NM_001165963.4(SCN1A):c.4146T>C (p.Gly1382=) rs1574005667
NM_001165963.4(SCN1A):c.4158C>T (p.Asp1386=)
NM_001165963.4(SCN1A):c.4159A>G (p.Ile1387Val) rs764507532
NM_001165963.4(SCN1A):c.4170G>C (p.Val1390=) rs1474333400
NM_001165963.4(SCN1A):c.4218T>A (p.Ala1406=)
NM_001165963.4(SCN1A):c.4257A>T (p.Gly1419=) rs2105507859
NM_001165963.4(SCN1A):c.4263G>C (p.Gly1421=)
NM_001165963.4(SCN1A):c.4284+7G>T
NM_001165963.4(SCN1A):c.4285-12C>T
NM_001165963.4(SCN1A):c.4335A>G (p.Arg1445=) rs2105486418
NM_001165963.4(SCN1A):c.4338+17T>A
NM_001165963.4(SCN1A):c.4338+19C>T rs2105486220
NM_001165963.4(SCN1A):c.4359T>C (p.Tyr1453=) rs1573984787
NM_001165963.4(SCN1A):c.4392T>C (p.Val1464=)
NM_001165963.4(SCN1A):c.4401C>T (p.Ile1467=) rs1690335252
NM_001165963.4(SCN1A):c.4446C>T (p.Ile1482=) rs398123596
NM_001165963.4(SCN1A):c.4476+14del
NM_001165963.4(SCN1A):c.4476+16A>G
NM_001165963.4(SCN1A):c.4477-11C>T rs775315152
NM_001165963.4(SCN1A):c.4477-20T>C rs2105463114
NM_001165963.4(SCN1A):c.4477-4A>G rs2105462878
NM_001165963.4(SCN1A):c.4477-7T>G rs2105462945
NM_001165963.4(SCN1A):c.4482A>G (p.Gly1494=) rs2105462751
NM_001165963.4(SCN1A):c.4503A>C (p.Thr1501=) rs1326158259
NM_001165963.4(SCN1A):c.4521C>T (p.Tyr1507=) rs750997506
NM_001165963.4(SCN1A):c.4539A>G (p.Lys1513=) rs2105462034
NM_001165963.4(SCN1A):c.4540T>C (p.Leu1514=)
NM_001165963.4(SCN1A):c.4551A>G (p.Lys1517=) rs374087499
NM_001165963.4(SCN1A):c.4573C>A (p.Arg1525=) rs794726752
NM_001165963.4(SCN1A):c.4578A>G (p.Pro1526=)
NM_001165963.4(SCN1A):c.4581+11T>C
NM_001165963.4(SCN1A):c.4581+7A>G rs1689984075
NM_001165963.4(SCN1A):c.4582-14C>A
NM_001165963.4(SCN1A):c.4582-9del rs1689727784
NM_001165963.4(SCN1A):c.4584C>T (p.Asn1528=)
NM_001165963.4(SCN1A):c.4599G>T (p.Met1533Ile) rs2105449769
NM_001165963.4(SCN1A):c.4611C>T (p.Phe1537=)
NM_001165963.4(SCN1A):c.4629T>C (p.Phe1543=) rs1329723137
NM_001165963.4(SCN1A):c.4632C>T (p.Asp1544=) rs1057521371
NM_001165963.4(SCN1A):c.4650C>T (p.Leu1550=) rs2105449280
NM_001165963.4(SCN1A):c.4680G>A (p.Val1560=) rs1014933161
NM_001165963.4(SCN1A):c.4749A>T (p.Leu1583=) rs2105448280
NM_001165963.4(SCN1A):c.4767A>C (p.Val1589=)
NM_001165963.4(SCN1A):c.4788C>A (p.Arg1596=) rs762836573
NM_001165963.4(SCN1A):c.4803C>A (p.Thr1601=)
NM_001165963.4(SCN1A):c.4852+11T>G rs746573662
NM_001165963.4(SCN1A):c.4852+17G>T
NM_001165963.4(SCN1A):c.4853-12G>A rs2105435765
NM_001165963.4(SCN1A):c.4853-13T>C
NM_001165963.4(SCN1A):c.4853-13del rs1689384635
NM_001165963.4(SCN1A):c.4853-16C>T
NM_001165963.4(SCN1A):c.4863T>A (p.Leu1621=) rs2105435563
NM_001165963.4(SCN1A):c.4920T>C (p.Leu1640=) rs1573952959
NM_001165963.4(SCN1A):c.4938C>T (p.Ile1646=)
NM_001165963.4(SCN1A):c.4953A>G (p.Lys1651=)
NM_001165963.4(SCN1A):c.4965G>A (p.Gly1655=)
NM_001165963.4(SCN1A):c.5008T>C (p.Leu1670=)
NM_001165963.4(SCN1A):c.5010G>A (p.Leu1670=)
NM_001165963.4(SCN1A):c.5019C>A (p.Ile1673=) rs757002972
NM_001165963.4(SCN1A):c.5019C>T (p.Ile1673=) rs757002972
NM_001165963.4(SCN1A):c.5022C>T (p.Gly1674=) rs1689327411
NM_001165963.4(SCN1A):c.5064G>A (p.Gly1688=)
NM_001165963.4(SCN1A):c.5073C>T (p.Asn1691=)
NM_001165963.4(SCN1A):c.5085T>G (p.Val1695=) rs2105432702
NM_001165963.4(SCN1A):c.5100G>A (p.Gly1700=) rs1689304358
NM_001165963.4(SCN1A):c.5103C>T (p.Ile1701=)
NM_001165963.4(SCN1A):c.5124G>A (p.Glu1708=)
NM_001165963.4(SCN1A):c.5127C>A (p.Thr1709=) rs777044331
NM_001165963.4(SCN1A):c.5196C>T (p.Pro1732=)
NM_001165963.4(SCN1A):c.5205C>T (p.Asn1735=) rs2105431102
NM_001165963.4(SCN1A):c.5238T>C (p.Val1746=) rs2105430607
NM_001165963.4(SCN1A):c.5250C>T (p.Ser1750=) rs1689264252
NM_001165963.4(SCN1A):c.5283T>G (p.Val1761=) rs1573948237
NM_001165963.4(SCN1A):c.5289T>A (p.Ile1763=)
NM_001165963.4(SCN1A):c.5304T>C (p.Ser1768=)
NM_001165963.4(SCN1A):c.5313C>T (p.Ile1771=)
NM_001165963.4(SCN1A):c.5352C>T (p.Val1784=)
NM_001165963.4(SCN1A):c.5361G>A (p.Glu1787=) rs796053038
NM_001165963.4(SCN1A):c.5379T>C (p.Thr1793=) rs1553520152
NM_001165963.4(SCN1A):c.5427T>C (p.Tyr1809=)
NM_001165963.4(SCN1A):c.5442G>A (p.Lys1814=) rs144595013
NM_001165963.4(SCN1A):c.5457A>T (p.Ala1819=)
NM_001165963.4(SCN1A):c.5490G>A (p.Gln1830=)
NM_001165963.4(SCN1A):c.5560T>C (p.Leu1854=) rs1452952636
NM_001165963.4(SCN1A):c.5581C>A (p.Arg1861=)
NM_001165963.4(SCN1A):c.5598T>C (p.Asp1866=) rs2105425631
NM_001165963.4(SCN1A):c.5610T>A (p.Ala1870=) rs1403005079
NM_001165963.4(SCN1A):c.5610T>G (p.Ala1870=)
NM_001165963.4(SCN1A):c.5634G>A (p.Glu1878=) rs748090629
NM_001165963.4(SCN1A):c.5634G>T (p.Glu1878Asp) rs748090629
NM_001165963.4(SCN1A):c.5643G>A (p.Glu1881=)
NM_001165963.4(SCN1A):c.5664G>A (p.Gln1888=)
NM_001165963.4(SCN1A):c.5688C>T (p.Ser1896=)
NM_001165963.4(SCN1A):c.5701G>A (p.Val1901Ile) rs1689155302
NM_001165963.4(SCN1A):c.5702T>G (p.Val1901Gly) rs1559100042
NM_001165963.4(SCN1A):c.5751A>G (p.Val1917=) rs1173785519
NM_001165963.4(SCN1A):c.5777A>G (p.Tyr1926Cys) rs376669368
NM_001165963.4(SCN1A):c.5781A>G (p.Arg1927=) rs2105423230
NM_001165963.4(SCN1A):c.5797C>A (p.Arg1933=) rs1351809843
NM_001165963.4(SCN1A):c.5798G>A (p.Arg1933Gln) rs556893466
NM_001165963.4(SCN1A):c.5820T>C (p.Phe1940=) rs2105422699
NM_001165963.4(SCN1A):c.5841C>A (p.Ile1947=)
NM_001165963.4(SCN1A):c.5907T>C (p.Ile1969=)
NM_001165963.4(SCN1A):c.5913A>G (p.Glu1971=)
NM_001165963.4(SCN1A):c.5979T>C (p.Ile1993=)
NM_001165963.4(SCN1A):c.5990A>G (p.His1997Arg) rs1573939967
NM_001165963.4(SCN1A):c.5994G>A (p.Glu1998=)
NM_001165963.4(SCN1A):c.6003C>T (p.Gly2001=)
NM_001165963.4(SCN1A):c.6015A>G (p.Lys2005=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.