ClinVar Miner

List of variants in gene SCN8A studied for not specified

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Gene type:
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Total variants: 135
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HGVS dbSNP
NM_014191.4(SCN8A):c.*6A>T rs771414635
NM_014191.4(SCN8A):c.*8C>T rs1057520364
NM_014191.4(SCN8A):c.-55+13A>G rs1555205506
NM_014191.4(SCN8A):c.-55+20C>G rs926099486
NM_014191.4(SCN8A):c.-61C>T rs1032376116
NM_014191.4(SCN8A):c.-67C>T rs374729451
NM_014191.4(SCN8A):c.1002A>G (p.Pro334=) rs1057520362
NM_014191.4(SCN8A):c.1104C>A (p.Thr368=) rs371872378
NM_014191.4(SCN8A):c.1135-13T>C rs1057520363
NM_014191.4(SCN8A):c.1173C>T (p.Phe391=) rs886049582
NM_014191.4(SCN8A):c.1204C>T (p.Leu402=) rs1057522082
NM_014191.4(SCN8A):c.1215G>A (p.Leu405=) rs751093826
NM_014191.4(SCN8A):c.1342-18C>T rs763911558
NM_014191.4(SCN8A):c.1424G>A (p.Arg475Gln) rs201018451
NM_014191.4(SCN8A):c.1470A>G (p.Glu490=) rs187115247
NM_014191.4(SCN8A):c.1509C>A (p.Leu503=) rs376749872
NM_014191.4(SCN8A):c.1545G>T (p.Val515=) rs779561924
NM_014191.4(SCN8A):c.1591C>T (p.Leu531=) rs773176178
NM_014191.4(SCN8A):c.1613G>A (p.Arg538Lys) rs1057518528
NM_014191.4(SCN8A):c.1636-16del rs754973942
NM_014191.4(SCN8A):c.1677C>T (p.His559=) rs202212399
NM_014191.4(SCN8A):c.1686G>A (p.Lys562=) rs764350935
NM_014191.4(SCN8A):c.1717C>A (p.Arg573=) rs370074236
NM_014191.4(SCN8A):c.1770G>A (p.Thr590=) rs773379793
NM_014191.4(SCN8A):c.1779G>C (p.Glu593Asp) rs760717246
NM_014191.4(SCN8A):c.1818G>C (p.Arg606=) rs777424314
NM_014191.4(SCN8A):c.1819G>A (p.Ala607Thr) rs367949317
NM_014191.4(SCN8A):c.1833G>T (p.Arg611=) rs35242963
NM_014191.4(SCN8A):c.1880C>T (p.Ser627Leu) rs1198276041
NM_014191.4(SCN8A):c.1908C>T (p.Ser636=) rs1053543226
NM_014191.4(SCN8A):c.1962_1982del (p.Pro655_Gly661del) rs768554772
NM_014191.4(SCN8A):c.1998+15G>T rs375797844
NM_014191.4(SCN8A):c.1999-5del rs769940455
NM_014191.4(SCN8A):c.2073C>T (p.Tyr691=) rs146982102
NM_014191.4(SCN8A):c.2098A>T (p.Ile700Leu) rs187153231
NM_014191.4(SCN8A):c.2109T>C (p.Val703=) rs369029348
NM_014191.4(SCN8A):c.2132-8_2132-5del rs587780452
NM_014191.4(SCN8A):c.2370+14_2370+15del rs768088808
NM_014191.4(SCN8A):c.2371-17T>G rs1193837480
NM_014191.4(SCN8A):c.2371-6A>G rs187002252
NM_014191.4(SCN8A):c.2475C>A (p.Val825=) rs535061303
NM_014191.4(SCN8A):c.2545-4T>G rs1175986621
NM_014191.4(SCN8A):c.2586C>T (p.Asn862=) rs377396450
NM_014191.4(SCN8A):c.2616G>T (p.Val872=) rs778358285
NM_014191.4(SCN8A):c.2632C>T (p.Leu878=) rs372582842
NM_014191.4(SCN8A):c.2670C>T (p.Ala890=) rs374452942
NM_014191.4(SCN8A):c.2685A>G (p.Gln895=) rs528126331
NM_014191.4(SCN8A):c.277-23TC[2] rs765408317
NM_014191.4(SCN8A):c.3024G>A (p.Val1008=) rs1057521309
NM_014191.4(SCN8A):c.3060G>A (p.Gln1020=) rs528718802
NM_014191.4(SCN8A):c.3076C>T (p.Arg1026Cys) rs117217073
NM_014191.4(SCN8A):c.3090G>A (p.Glu1030=) rs1057523246
NM_014191.4(SCN8A):c.3135C>T (p.Ile1045=) rs550579591
NM_014191.4(SCN8A):c.3147C>T (p.Thr1049=) rs567527548
NM_014191.4(SCN8A):c.3148G>A (p.Gly1050Ser) rs202006479
NM_014191.4(SCN8A):c.3150T>G (p.Gly1050=) rs552307188
NM_014191.4(SCN8A):c.3164G>A (p.Arg1055Gln) rs756127631
NM_014191.4(SCN8A):c.3321C>T (p.Asn1107=) rs374213514
NM_014191.4(SCN8A):c.3408C>T (p.Thr1136=) rs1555226263
NM_014191.4(SCN8A):c.3459A>G (p.Glu1153=) rs1057522632
NM_014191.4(SCN8A):c.3490+20G>A rs303808
NM_014191.4(SCN8A):c.3491-10C>T rs373221046
NM_014191.4(SCN8A):c.3643C>T (p.Leu1215=) rs532528307
NM_014191.4(SCN8A):c.3645+14G>C rs202031360
NM_014191.4(SCN8A):c.3645+19T>G rs1057521948
NM_014191.4(SCN8A):c.3669G>A (p.Glu1223=) rs1318771897
NM_014191.4(SCN8A):c.3738G>A (p.Glu1246=) rs376953145
NM_014191.4(SCN8A):c.3819+13C>G rs754542157
NM_014191.4(SCN8A):c.3822C>T (p.Val1274=) rs187327463
NM_014191.4(SCN8A):c.3942+7T>C rs757990460
NM_014191.4(SCN8A):c.3943-17C>G rs1057523298
NM_014191.4(SCN8A):c.3957C>T (p.Ala1319=) rs764790057
NM_014191.4(SCN8A):c.396-5T>C rs764928471
NM_014191.4(SCN8A):c.3966C>T (p.Gly1322=) rs775267842
NM_014191.4(SCN8A):c.3999G>A (p.Val1333=) rs796053208
NM_014191.4(SCN8A):c.402T>C (p.Phe134=) rs559668426
NM_014191.4(SCN8A):c.4122T>A (p.Thr1374=) rs115623439
NM_014191.4(SCN8A):c.4155A>C (p.Thr1385=) rs144424662
NM_014191.4(SCN8A):c.4218T>C (p.Leu1406=) rs768214178
NM_014191.4(SCN8A):c.4278G>A (p.Arg1426=) rs143867796
NM_014191.4(SCN8A):c.4281+13A>G rs9943809
NM_014191.4(SCN8A):c.4350C>T (p.Phe1450=) rs753234714
NM_014191.4(SCN8A):c.4351G>A (p.Gly1451Ser) rs863223345
NM_014191.4(SCN8A):c.4359C>T (p.Phe1453=) rs746544103
NM_014191.4(SCN8A):c.435C>T (p.Asn145=) rs1057522588
NM_014191.4(SCN8A):c.4446C>T (p.Thr1482=) rs374059983
NM_014191.4(SCN8A):c.4509T>C (p.Pro1503=) rs303815
NM_014191.4(SCN8A):c.4590G>A (p.Met1530Ile) rs771231471
NM_014191.4(SCN8A):c.4725G>A (p.Ala1575=) rs756326813
NM_014191.4(SCN8A):c.4748T>C (p.Ile1583Thr) rs201458257
NM_014191.4(SCN8A):c.474G>A (p.Ser158=) rs374989727
NM_014191.4(SCN8A):c.4764C>T (p.Phe1588=) rs200728478
NM_014191.4(SCN8A):c.4779C>T (p.Val1593=) rs12301486
NM_014191.4(SCN8A):c.4780A>C (p.Ile1594Leu) rs752829853
NM_014191.4(SCN8A):c.4795+11T>C rs143139673
NM_014191.4(SCN8A):c.485+17T>C rs748436294
NM_014191.4(SCN8A):c.485+18G>A rs369368623
NM_014191.4(SCN8A):c.492G>A (p.Thr164=) rs762641381
NM_014191.4(SCN8A):c.4969C>T (p.Leu1657=) rs374755275
NM_014191.4(SCN8A):c.5046C>T (p.Ile1682=) rs376759643
NM_014191.4(SCN8A):c.5077_5091del (p.Asn1693_Cys1697del) rs1064796263
NM_014191.4(SCN8A):c.5118T>C (p.Gly1706=) rs776753024
NM_014191.4(SCN8A):c.5229C>A (p.Ile1743=) rs370268493
NM_014191.4(SCN8A):c.5232C>T (p.Phe1744=) rs1555231003
NM_014191.4(SCN8A):c.5265A>G (p.Leu1755=) rs1555231005
NM_014191.4(SCN8A):c.5271C>T (p.Val1757=) rs752174650
NM_014191.4(SCN8A):c.5385C>T (p.Phe1795=) rs748215769
NM_014191.4(SCN8A):c.5391C>T (p.Pro1797=) rs372155701
NM_014191.4(SCN8A):c.5403G>A (p.Gln1801=) rs1555231039
NM_014191.4(SCN8A):c.5472C>A (p.Pro1824=) rs60637
NM_014191.4(SCN8A):c.5472C>G (p.Pro1824=) rs60637
NM_014191.4(SCN8A):c.5514C>T (p.Ser1838=) rs372388512
NM_014191.4(SCN8A):c.5577C>T (p.Ser1859=) rs185667241
NM_014191.4(SCN8A):c.5580G>A (p.Gly1860=) rs201484402
NM_014191.4(SCN8A):c.5601G>A (p.Gln1867=) rs368449473
NM_014191.4(SCN8A):c.576C>T (p.Asp192=) rs4761829
NM_014191.4(SCN8A):c.579A>G (p.Pro193=) rs755900174
NM_014191.4(SCN8A):c.5887G>A (p.Glu1963Lys) rs1057518294
NM_014191.4(SCN8A):c.5943_*2GAG[1] (p.Ter1981=) rs555793953
NM_014191.4(SCN8A):c.657A>G (p.Leu219=) rs773009820
NM_014191.4(SCN8A):c.706+13G>A rs376385273
NM_014191.4(SCN8A):c.707-15A>G rs149586118
NM_014191.4(SCN8A):c.707-15A>T rs149586118
NM_014191.4(SCN8A):c.726T>A (p.Gly242=) rs779319824
NM_014191.4(SCN8A):c.744G>A (p.Val248=) rs201298141
NM_014191.4(SCN8A):c.751C>T (p.Leu251=) rs200307006
NM_014191.4(SCN8A):c.760G>A (p.Val254Met) rs1057518293
NM_014191.4(SCN8A):c.768C>A (p.Ile256=) rs1231477580
NM_014191.4(SCN8A):c.804C>T (p.Ile268=) rs375241678
NM_014191.4(SCN8A):c.814C>T (p.Leu272=) rs769727012
NM_014191.4(SCN8A):c.858A>T (p.Ile286=) rs370911858
NM_014191.4(SCN8A):c.867C>T (p.Asn289=) rs375801783
NM_014191.4(SCN8A):c.928+9C>T rs148027656
NM_014191.4(SCN8A):c.992+10T>A rs367746278
NM_014191.4(SCN8A):c.996A>G (p.Gln332=) rs1057522020

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