ClinVar Miner

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

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Total variants: 156
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HGVS dbSNP gnomAD frequency
NM_001165963.4(SCN1A):c.1739G>A (p.Arg580Gln) rs544692790 0.00011
NM_001165963.4(SCN1A):c.379C>G (p.His127Asp) rs148442069 0.00011
NM_001165963.4(SCN1A):c.1814G>C (p.Arg605Thr) rs374501252 0.00009
NM_001165963.4(SCN1A):c.1810C>T (p.Arg604Cys) rs148371904 0.00007
NM_001165963.4(SCN1A):c.1582A>T (p.Ser528Cys) rs372372558 0.00006
NM_001165963.4(SCN1A):c.1343T>C (p.Ile448Thr) rs755962326 0.00005
NM_001165963.4(SCN1A):c.2125C>G (p.Gln709Glu) rs370037455 0.00005
NM_001165963.4(SCN1A):c.1604G>A (p.Arg535His) rs184524479 0.00004
NM_001165963.4(SCN1A):c.875T>C (p.Ile292Thr) rs766503699 0.00004
NM_001165963.4(SCN1A):c.1220T>C (p.Ile407Thr) rs398123581 0.00003
NM_001165963.4(SCN1A):c.2201G>A (p.Cys734Tyr) rs1247949520 0.00003
NM_001165963.4(SCN1A):c.638C>T (p.Ser213Leu) rs754661378 0.00003
NM_001165963.4(SCN1A):c.791T>C (p.Ile264Thr) rs745664511 0.00003
NM_001165963.4(SCN1A):c.859T>G (p.Leu287Val) rs138357595 0.00003
NM_001165963.4(SCN1A):c.890C>T (p.Thr297Ile) rs121918771 0.00003
NM_001165963.4(SCN1A):c.1641G>T (p.Lys547Asn) rs550770894 0.00002
NM_001165963.4(SCN1A):c.1652C>T (p.Ser551Phe) rs1396476288 0.00002
NM_001165963.4(SCN1A):c.1882T>A (p.Ser628Thr) rs752639991 0.00002
NM_001165963.4(SCN1A):c.1988C>T (p.Pro663Leu) rs370481828 0.00002
NM_001165963.4(SCN1A):c.2007A>G (p.Pro669=) rs993370830 0.00002
NM_001165963.4(SCN1A):c.2085T>G (p.Ser695Arg) rs764865083 0.00002
NM_001165963.4(SCN1A):c.2552A>G (p.Asn851Ser) rs561912072 0.00002
NM_001165963.4(SCN1A):c.3044C>T (p.Ala1015Val) rs772487501 0.00002
NM_001165963.4(SCN1A):c.384-9A>G rs371926865 0.00002
NM_001165963.4(SCN1A):c.1193C>T (p.Thr398Met) rs774937055 0.00001
NM_001165963.4(SCN1A):c.1327G>A (p.Glu443Lys) rs1300925640 0.00001
NM_001165963.4(SCN1A):c.1485G>T (p.Lys495Asn) rs201362569 0.00001
NM_001165963.4(SCN1A):c.1603C>T (p.Arg535Cys) rs761062389 0.00001
NM_001165963.4(SCN1A):c.1678C>T (p.Arg560Cys) rs768764142 0.00001
NM_001165963.4(SCN1A):c.1679G>A (p.Arg560His) rs746769373 0.00001
NM_001165963.4(SCN1A):c.1703G>A (p.Arg568Gln) rs794727025 0.00001
NM_001165963.4(SCN1A):c.1706A>G (p.Asn569Ser) rs796052978 0.00001
NM_001165963.4(SCN1A):c.1753G>C (p.Gly585Arg) rs753050564 0.00001
NM_001165963.4(SCN1A):c.1852C>T (p.Arg618Cys) rs750516202 0.00001
NM_001165963.4(SCN1A):c.1891A>G (p.Met631Val) rs1336507340 0.00001
NM_001165963.4(SCN1A):c.1905T>G (p.Phe635Leu) rs1489623233 0.00001
NM_001165963.4(SCN1A):c.2006C>T (p.Pro669Leu) rs570326929 0.00001
NM_001165963.4(SCN1A):c.2018T>C (p.Ile673Thr) rs1315723631 0.00001
NM_001165963.4(SCN1A):c.203T>C (p.Ile68Thr) rs758871507 0.00001
NM_001165963.4(SCN1A):c.2229C>G (p.Asn743Lys) rs745738437 0.00001
NM_001165963.4(SCN1A):c.2294T>C (p.Val765Ala) rs1302724105 0.00001
NM_001165963.4(SCN1A):c.2474A>C (p.Tyr825Ser) rs780963881 0.00001
NM_001165963.4(SCN1A):c.2486A>T (p.Gln829Leu) rs1299251889 0.00001
NM_001165963.4(SCN1A):c.2509G>A (p.Gly837Ser) rs779561135 0.00001
NM_001165963.4(SCN1A):c.2520G>T (p.Val840=) rs757851017 0.00001
NM_001165963.4(SCN1A):c.2584C>A (p.Arg862=) rs397514459 0.00001
NM_001165963.4(SCN1A):c.2659G>A (p.Val887Met) rs368663649 0.00001
NM_001165963.4(SCN1A):c.2701G>A (p.Val901Ile) rs12617205 0.00001
NM_001165963.4(SCN1A):c.3018T>G (p.Asp1006Glu) rs375909896 0.00001
NM_001165963.4(SCN1A):c.3053G>A (p.Arg1018Lys) rs745930061 0.00001
NM_001165963.4(SCN1A):c.418A>G (p.Thr140Ala) rs796052956 0.00001
NM_001165963.4(SCN1A):c.559C>T (p.Arg187Trp) rs1419611654 0.00001
NM_001165963.4(SCN1A):c.560G>A (p.Arg187Gln) rs777631884 0.00001
NM_001165963.4(SCN1A):c.607G>A (p.Val203Ile) rs569880910 0.00001
NM_001165963.4(SCN1A):c.82C>T (p.Arg28Cys) rs754032480 0.00001
NM_001165963.4(SCN1A):c.879A>C (p.Glu293Asp) rs1457806589 0.00001
NM_001165963.4(SCN1A):c.1066A>G (p.Arg356Gly) rs121917920
NM_001165963.4(SCN1A):c.1201A>G (p.Ile401Val) rs1697908394
NM_001165963.4(SCN1A):c.121A>G (p.Lys41Glu) rs764444350
NM_001165963.4(SCN1A):c.1253T>C (p.Ile418Thr) rs1697902111
NM_001165963.4(SCN1A):c.1262T>C (p.Val421Ala) rs796052975
NM_001165963.4(SCN1A):c.1313A>G (p.Glu438Gly) rs2105861457
NM_001165963.4(SCN1A):c.1325C>G (p.Ala442Gly) rs2105861318
NM_001165963.4(SCN1A):c.1339A>G (p.Met447Val) rs777596738
NM_001165963.4(SCN1A):c.134A>G (p.Asp45Gly) rs1559284606
NM_001165963.4(SCN1A):c.1396G>C (p.Ala466Pro) rs762652516
NM_001165963.4(SCN1A):c.1479T>A (p.Ser493Arg) rs200545739
NM_001165963.4(SCN1A):c.1487A>G (p.Glu496Gly)
NM_001165963.4(SCN1A):c.1511G>C (p.Arg504Thr)
NM_001165963.4(SCN1A):c.1548T>G (p.Asp516Glu) rs1057524611
NM_001165963.4(SCN1A):c.1571A>T (p.Glu524Val) rs1406176906
NM_001165963.4(SCN1A):c.1586T>C (p.Ile529Thr) rs1166000241
NM_001165963.4(SCN1A):c.1588A>G (p.Arg530Gly)
NM_001165963.4(SCN1A):c.1606T>G (p.Phe536Val) rs1254340060
NM_001165963.4(SCN1A):c.1622A>G (p.Asn541Ser) rs1697635871
NM_001165963.4(SCN1A):c.1707T>G (p.Asn569Lys) rs778432457
NM_001165963.4(SCN1A):c.1709G>A (p.Ser570Asn) rs1057518703
NM_001165963.4(SCN1A):c.1712G>A (p.Arg571Lys) rs1697493699
NM_001165963.4(SCN1A):c.1714A>G (p.Thr572Ala)
NM_001165963.4(SCN1A):c.1759G>A (p.Glu587Lys) rs1057524494
NM_001165963.4(SCN1A):c.1787_1789del (p.Ser596del) rs796053061
NM_001165963.4(SCN1A):c.1797G>T (p.Glu599Asp) rs145035963
NM_001165963.4(SCN1A):c.1817A>T (p.Asp606Val) rs748797259
NM_001165963.4(SCN1A):c.1819T>A (p.Ser607Thr) rs967989950
NM_001165963.4(SCN1A):c.1838G>A (p.Arg613Gln) rs755323236
NM_001165963.4(SCN1A):c.1849A>G (p.Arg617Gly) rs1553544701
NM_001165963.4(SCN1A):c.1850_1851delinsAT (p.Arg617Asn) rs796053063
NM_001165963.4(SCN1A):c.1873A>G (p.Thr625Ala) rs2105842681
NM_001165963.4(SCN1A):c.1948G>A (p.Val650Met) rs398123586
NM_001165963.4(SCN1A):c.1997A>G (p.Gln666Arg)
NM_001165963.4(SCN1A):c.200A>T (p.Asp67Val) rs2105982601
NM_001165963.4(SCN1A):c.2035G>A (p.Asp679Asn) rs796052979
NM_001165963.4(SCN1A):c.2051C>T (p.Thr684Ile) rs1574209746
NM_001165963.4(SCN1A):c.2057A>G (p.Glu686Gly) rs374767754
NM_001165963.4(SCN1A):c.2066T>G (p.Met689Arg)
NM_001165963.4(SCN1A):c.2111T>C (p.Leu704Pro) rs1131691747
NM_001165963.4(SCN1A):c.2145T>G (p.Ser715Arg)
NM_001165963.4(SCN1A):c.2150C>A (p.Ala717Asp) rs201021176
NM_001165963.4(SCN1A):c.2178A>T (p.Glu726Asp) rs1697170377
NM_001165963.4(SCN1A):c.2219A>T (p.Lys740Ile)
NM_001165963.4(SCN1A):c.2255C>T (p.Pro752Leu) rs1553543331
NM_001165963.4(SCN1A):c.2257T>C (p.Tyr753His)
NM_001165963.4(SCN1A):c.2266A>G (p.Lys756Glu) rs1426666349
NM_001165963.4(SCN1A):c.2293G>A (p.Val765Met)
NM_001165963.4(SCN1A):c.2297T>G (p.Met766Arg) rs2105828429
NM_001165963.4(SCN1A):c.2330G>A (p.Cys777Tyr) rs2105828112
NM_001165963.4(SCN1A):c.2378C>A (p.Thr793Lys) rs762038032
NM_001165963.4(SCN1A):c.2390A>G (p.Asn797Ser)
NM_001165963.4(SCN1A):c.2395G>A (p.Val799Met)
NM_001165963.4(SCN1A):c.23C>T (p.Pro8Leu)
NM_001165963.4(SCN1A):c.2402C>T (p.Thr801Ile) rs2105827373
NM_001165963.4(SCN1A):c.2404G>A (p.Val802Ile) rs1057518467
NM_001165963.4(SCN1A):c.2415+4A>G rs1553543148
NM_001165963.4(SCN1A):c.2420T>A (p.Phe807Tyr)
NM_001165963.4(SCN1A):c.2462C>T (p.Ala821Val) rs2105817446
NM_001165963.4(SCN1A):c.2486A>G (p.Gln829Arg)
NM_001165963.4(SCN1A):c.2496G>T (p.Trp832Cys) rs1553542309
NM_001165963.4(SCN1A):c.2504T>C (p.Phe835Ser) rs796052981
NM_001165963.4(SCN1A):c.2510G>A (p.Gly837Asp)
NM_001165963.4(SCN1A):c.2554G>A (p.Val852Met) rs1057524206
NM_001165963.4(SCN1A):c.25C>A (p.Pro9Thr)
NM_001165963.4(SCN1A):c.265-3C>T rs1553553614
NM_001165963.4(SCN1A):c.2722G>A (p.Gly908Ser) rs796052984
NM_001165963.4(SCN1A):c.2744G>A (p.Ser915Asn)
NM_001165963.4(SCN1A):c.2767A>G (p.Ile923Val) rs2105807305
NM_001165963.4(SCN1A):c.293C>T (p.Ala98Val) rs2105918454
NM_001165963.4(SCN1A):c.2985T>G (p.Phe995Leu) rs794726746
NM_001165963.4(SCN1A):c.2993A>G (p.Asp998Gly) rs1484321812
NM_001165963.4(SCN1A):c.2994C>A (p.Asp998Glu) rs796052991
NM_001165963.4(SCN1A):c.3008C>G (p.Thr1003Ser) rs1343188948
NM_001165963.4(SCN1A):c.3046G>A (p.Val1016Met) rs370857858
NM_001165963.4(SCN1A):c.3064_3065delinsAA (p.Gly1022Lys) rs2105796551
NM_001165963.4(SCN1A):c.364A>G (p.Ile122Val) rs1405137253
NM_001165963.4(SCN1A):c.376G>A (p.Val126Ile) rs1699350822
NM_001165963.4(SCN1A):c.382T>G (p.Ser128Ala)
NM_001165963.4(SCN1A):c.398T>A (p.Leu133Gln) rs1131691440
NM_001165963.4(SCN1A):c.458G>T (p.Trp153Leu) rs2105909582
NM_001165963.4(SCN1A):c.554T>C (p.Phe185Ser) rs1358421236
NM_001165963.4(SCN1A):c.55A>G (p.Arg19Gly) rs796053096
NM_001165963.4(SCN1A):c.621G>A (p.Val207=)
NM_001165963.4(SCN1A):c.68C>A (p.Ala23Glu) rs139397227
NM_001165963.4(SCN1A):c.6G>C (p.Glu2Asp) rs771003075
NM_001165963.4(SCN1A):c.73A>T (p.Ile25Phe) rs2105983873
NM_001165963.4(SCN1A):c.862G>C (p.Glu288Gln) rs796052966
NM_001165963.4(SCN1A):c.86T>C (p.Ile29Thr) rs773935383
NM_001165963.4(SCN1A):c.907A>G (p.Thr303Ala) rs774358847
NM_001165963.4(SCN1A):c.916A>C (p.Asn306His) rs2105888896
NM_001165963.4(SCN1A):c.918T>G (p.Asn306Lys)
NM_001165963.4(SCN1A):c.959A>T (p.Asp320Val) rs796052967
NM_001165963.4(SCN1A):c.965-14_965-11del
NM_001165963.4(SCN1A):c.982G>A (p.Glu328Lys)
NM_001165963.4(SCN1A):c.984G>C (p.Glu328Asp) rs796052968
NM_001165963.4(SCN1A):c.986G>T (p.Gly329Val) rs779184118
NM_001165963.4(SCN1A):c.993A>C (p.Leu331Phe) rs1057524518
NM_001165963.4(SCN1A):c.995A>G (p.Asp332Gly) rs796052969
NM_006920.6(SCN1A):c.4795G>T (p.Val1599Leu) rs2105447473

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