ClinVar Miner

List of variants in gene SCN8A reported by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Total variants: 42
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HGVS dbSNP
NM_001330260.2(SCN8A):c.1217T>A (p.Ile406Asn) rs1565893686
NM_001330260.2(SCN8A):c.1241A>T (p.Tyr414Phe) rs794727000
NM_001330260.2(SCN8A):c.1424G>A (p.Arg475Gln) rs201018451
NM_001330260.2(SCN8A):c.1570A>G (p.Met524Val) rs886042925
NM_001330260.2(SCN8A):c.1677C>T (p.His559=) rs202212399
NM_001330260.2(SCN8A):c.1819G>A (p.Ala607Thr) rs367949317
NM_001330260.2(SCN8A):c.1833G>T (p.Arg611=) rs35242963
NM_001330260.2(SCN8A):c.1846_1854GGCTACAGC[1] (p.616_618GYS[1]) rs758276968
NM_001330260.2(SCN8A):c.2073C>T (p.Tyr691=) rs146982102
NM_001330260.2(SCN8A):c.2098A>T (p.Ile700Leu) rs187153231
NM_001330260.2(SCN8A):c.2287A>G (p.Ile763Val) rs794727128
NM_001330260.2(SCN8A):c.2543T>G (p.Leu848Trp) rs886043686
NM_001330260.2(SCN8A):c.2632C>T (p.Leu878=) rs372582842
NM_001330260.2(SCN8A):c.2670C>T (p.Ala890=) rs374452942
NM_001330260.2(SCN8A):c.2733C>T (p.Asp911=) rs763201344
NM_001330260.2(SCN8A):c.302A>G (p.Lys101Arg) rs773765456
NM_001330260.2(SCN8A):c.3060G>A (p.Gln1020=) rs528718802
NM_001330260.2(SCN8A):c.3135C>T (p.Ile1045=) rs550579591
NM_001330260.2(SCN8A):c.3204C>T (p.Ser1068=) rs201045619
NM_001330260.2(SCN8A):c.3640G>A (p.Ala1214Thr) rs769243993
NM_001330260.2(SCN8A):c.3822C>T (p.Val1274=) rs187327463
NM_001330260.2(SCN8A):c.3967G>A (p.Ala1323Thr) rs794727361
NM_001330260.2(SCN8A):c.3985A>G (p.Asn1329Asp) rs794727362
NM_001330260.2(SCN8A):c.402T>C (p.Phe134=) rs559668426
NM_001330260.2(SCN8A):c.4155A>C (p.Thr1385=) rs144424662
NM_001330260.2(SCN8A):c.4278G>A (p.Arg1426=) rs143867796
NM_001330260.2(SCN8A):c.4719G>A (p.Met1573Ile) rs780940263
NM_001330260.2(SCN8A):c.4877G>A (p.Arg1626His) rs886044328
NM_001330260.2(SCN8A):c.491C>T (p.Thr164Met) rs775272996
NM_001330260.2(SCN8A):c.5152C>T (p.Pro1718Ser) rs794727442
NM_001330260.2(SCN8A):c.5366A>G (p.Tyr1789Cys) rs961205540
NM_001330260.2(SCN8A):c.5472C>A (p.Pro1824=) rs60637
NM_001330260.2(SCN8A):c.5577C>T (p.Ser1859=) rs185667241
NM_001330260.2(SCN8A):c.5601G>A (p.Gln1867=) rs368449473
NM_001330260.2(SCN8A):c.5630A>G (p.Asn1877Ser) rs587780455
NM_001330260.2(SCN8A):c.576C>T (p.Asp192=) rs4761829
NM_001330260.2(SCN8A):c.5879G>A (p.Arg1960Gln) rs369346315
NM_001330260.2(SCN8A):c.5943_*2GAG[1] (p.Ter1981=) rs555793953
NM_001330260.2(SCN8A):c.605T>A (p.Ile202Asn) rs886042939
NM_001330260.2(SCN8A):c.615-230T>C rs1057518487
NM_014191.4(SCN8A):c.2371-6A>G rs187002252
NM_014191.4(SCN8A):c.929-4C>G rs771227940

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