ClinVar Miner

List of variants in gene SCN8A reported as uncertain significance by GeneDx

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Gene type:
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Total variants: 145
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HGVS dbSNP gnomAD frequency
NM_001330260.2(SCN8A):c.3710A>G (p.Lys1237Arg) rs377197765 0.00006
NM_001330260.2(SCN8A):c.5558A>G (p.Lys1853Arg) rs1410900258 0.00004
NM_001330260.2(SCN8A):c.2951A>G (p.Asn984Ser) rs373040746 0.00003
NM_001330260.2(SCN8A):c.3503G>A (p.Arg1168Gln) rs763817893 0.00003
NM_001330260.2(SCN8A):c.3769G>A (p.Val1257Ile) rs750829844 0.00003
NM_001330260.2(SCN8A):c.4678G>A (p.Val1560Met) rs764328953 0.00003
NM_001330260.2(SCN8A):c.1349C>T (p.Ala450Val) rs755154133 0.00002
NM_001330260.2(SCN8A):c.1707G>C (p.Arg569Ser) rs267603508 0.00002
NM_001330260.2(SCN8A):c.2002A>G (p.Thr668Ala) rs556325115 0.00002
NM_001330260.2(SCN8A):c.1351A>G (p.Met451Val) rs961308028 0.00001
NM_001330260.2(SCN8A):c.1423C>T (p.Arg475Trp) rs771577480 0.00001
NM_001330260.2(SCN8A):c.1445A>G (p.Lys482Arg) rs769520392 0.00001
NM_001330260.2(SCN8A):c.1792C>T (p.Arg598Trp) rs1064796357 0.00001
NM_001330260.2(SCN8A):c.1880C>T (p.Ser627Leu) rs1198276041 0.00001
NM_001330260.2(SCN8A):c.2415A>G (p.Ile805Met) rs1280217170 0.00001
NM_001330260.2(SCN8A):c.302A>G (p.Lys101Arg) rs773765456 0.00001
NM_001330260.2(SCN8A):c.3040A>G (p.Lys1014Glu) rs1019969857 0.00001
NM_001330260.2(SCN8A):c.3048C>T (p.His1016=) rs777076650 0.00001
NM_001330260.2(SCN8A):c.3356C>T (p.Pro1119Leu) rs372096102 0.00001
NM_001330260.2(SCN8A):c.3373-7T>G rs1942896252 0.00001
NM_001330260.2(SCN8A):c.363A>G (p.Ile121Met) rs752190543 0.00001
NM_001330260.2(SCN8A):c.3640G>A (p.Ala1214Thr) rs769243993 0.00001
NM_001330260.2(SCN8A):c.3722A>G (p.Tyr1241Cys) rs796053213 0.00001
NM_001330260.2(SCN8A):c.457A>C (p.Asn153His) rs796053232 0.00001
NM_001330260.2(SCN8A):c.5035G>A (p.Glu1679Lys) rs796053225 0.00001
NM_001330260.2(SCN8A):c.5583G>C (p.Glu1861Asp) rs1352614116 0.00001
NM_001330260.2(SCN8A):c.5809A>C (p.Ser1937Arg) rs796053230 0.00001
NM_014191.4(SCN8A):c.1831C>T (p.Arg611Trp) rs745847594 0.00001
NM_001330260.2(SCN8A):c.1043A>G (p.Tyr348Cys)
NM_001330260.2(SCN8A):c.1052C>T (p.Thr351Ile)
NM_001330260.2(SCN8A):c.1094G>A (p.Arg365His) rs1592390511
NM_001330260.2(SCN8A):c.1337C>T (p.Ala446Val)
NM_001330260.2(SCN8A):c.1400G>T (p.Gly467Val) rs1398266993
NM_001330260.2(SCN8A):c.1406A>G (p.Glu469Gly)
NM_001330260.2(SCN8A):c.1474C>A (p.Arg492Ser)
NM_001330260.2(SCN8A):c.1599C>A (p.Asp533Glu) rs2138750756
NM_001330260.2(SCN8A):c.1613G>A (p.Arg538Lys) rs1057518528
NM_001330260.2(SCN8A):c.1676A>G (p.His559Arg)
NM_001330260.2(SCN8A):c.1715G>A (p.Gly572Glu) rs1085307867
NM_001330260.2(SCN8A):c.1912_1944dup (p.Val648_Val649insLysArgAsnSerThrValAspCysAsnGlyVal)
NM_001330260.2(SCN8A):c.1916G>C (p.Arg639Pro)
NM_001330260.2(SCN8A):c.1919A>C (p.Asn640Thr) rs1332024650
NM_001330260.2(SCN8A):c.1960G>A (p.Gly654Ser) rs905574009
NM_001330260.2(SCN8A):c.1962_1982del (p.Pro655_Gly661del) rs768554772
NM_001330260.2(SCN8A):c.1984C>T (p.Arg662Cys) rs76222829
NM_001330260.2(SCN8A):c.2048T>C (p.Val683Ala) rs2138828731
NM_001330260.2(SCN8A):c.2092A>G (p.Asn698Asp) rs2138828904
NM_001330260.2(SCN8A):c.2105G>C (p.Ser702Thr) rs2138828935
NM_001330260.2(SCN8A):c.2252T>C (p.Met751Thr)
NM_001330260.2(SCN8A):c.2314A>G (p.Met772Val)
NM_001330260.2(SCN8A):c.2363G>A (p.Gly788Glu)
NM_001330260.2(SCN8A):c.2387T>C (p.Phe796Ser) rs1555225481
NM_001330260.2(SCN8A):c.2441A>G (p.Gln814Arg)
NM_001330260.2(SCN8A):c.2447G>A (p.Gly816Asp) rs2138857757
NM_001330260.2(SCN8A):c.2509G>A (p.Val837Met) rs2138857855
NM_001330260.2(SCN8A):c.2530C>T (p.Arg844Ter) rs1555225521
NM_001330260.2(SCN8A):c.2539C>T (p.Arg847Ter) rs1555225532
NM_001330260.2(SCN8A):c.2572T>G (p.Trp858Gly)
NM_001330260.2(SCN8A):c.2609A>G (p.Asn870Ser) rs2138862664
NM_001330260.2(SCN8A):c.2746C>T (p.Arg916Cys)
NM_001330260.2(SCN8A):c.2753A>G (p.His918Arg)
NM_001330260.2(SCN8A):c.2916del (p.Leu973fs) rs2138868015
NM_001330260.2(SCN8A):c.291A>T (p.Leu97Phe) rs2138707920
NM_001330260.2(SCN8A):c.2967T>A (p.Asp989Glu)
NM_001330260.2(SCN8A):c.3035A>C (p.Lys1012Thr)
NM_001330260.2(SCN8A):c.3092T>C (p.Val1031Ala) rs1057524300
NM_001330260.2(SCN8A):c.3205G>A (p.Gly1069Ser) rs1064796374
NM_001330260.2(SCN8A):c.3239A>G (p.Asp1080Gly)
NM_001330260.2(SCN8A):c.3317A>C (p.Glu1106Ala) rs2138869049
NM_001330260.2(SCN8A):c.331G>A (p.Ala111Thr) rs796053231
NM_001330260.2(SCN8A):c.3364A>G (p.Ser1122Gly) rs554826191
NM_001330260.2(SCN8A):c.3377T>A (p.Leu1126Gln) rs977168749
NM_001330260.2(SCN8A):c.3379G>A (p.Asp1127Asn)
NM_001330260.2(SCN8A):c.3382G>A (p.Asp1128Asn)
NM_001330260.2(SCN8A):c.3395C>T (p.Ser1132Phe)
NM_001330260.2(SCN8A):c.3416T>C (p.Ile1139Thr)
NM_001330260.2(SCN8A):c.350C>T (p.Pro117Leu)
NM_001330260.2(SCN8A):c.3647C>T (p.Ala1216Val)
NM_001330260.2(SCN8A):c.3682A>G (p.Ile1228Val)
NM_001330260.2(SCN8A):c.3706G>A (p.Asp1236Asn)
NM_001330260.2(SCN8A):c.3724A>G (p.Ile1242Val)
NM_001330260.2(SCN8A):c.3806T>C (p.Phe1269Ser)
NM_001330260.2(SCN8A):c.3830T>A (p.Val1277Asp) rs1057524050
NM_001330260.2(SCN8A):c.3860C>T (p.Ser1287Leu)
NM_001330260.2(SCN8A):c.3895A>T (p.Arg1299Ter) rs1064796430
NM_001330260.2(SCN8A):c.3939G>A (p.Met1313Ile) rs1085307546
NM_001330260.2(SCN8A):c.3939G>T (p.Met1313Ile)
NM_001330260.2(SCN8A):c.4115A>G (p.Asn1372Ser) rs2138904379
NM_001330260.2(SCN8A):c.4277G>A (p.Arg1426Gln) rs1057524240
NM_001330260.2(SCN8A):c.4320G>T (p.Met1440Ile)
NM_001330260.2(SCN8A):c.4357TTC[1] (p.Phe1454del) rs2138909604
NM_001330260.2(SCN8A):c.435C>G (p.Asn145Lys) rs1057522588
NM_001330260.2(SCN8A):c.4371C>A (p.Asn1457Lys) rs2138909619
NM_001330260.2(SCN8A):c.4438T>C (p.Phe1480Leu) rs796053218
NM_001330260.2(SCN8A):c.4492A>G (p.Lys1498Glu) rs1555228931
NM_001330260.2(SCN8A):c.4540A>G (p.Ile1514Val) rs2138918984
NM_001330260.2(SCN8A):c.4584C>A (p.Ile1528=)
NM_001330260.2(SCN8A):c.4664A>T (p.Tyr1555Phe)
NM_001330260.2(SCN8A):c.4693T>C (p.Phe1565Leu)
NM_001330260.2(SCN8A):c.4715A>G (p.Lys1572Arg) rs756839708
NM_001330260.2(SCN8A):c.4798A>G (p.Met1600Val) rs796053221
NM_001330260.2(SCN8A):c.4800G>A (p.Met1600Ile) rs1565933795
NM_001330260.2(SCN8A):c.4814T>C (p.Ile1605Thr) rs2138942209
NM_001330260.2(SCN8A):c.4913G>A (p.Arg1638His) rs1064794873
NM_001330260.2(SCN8A):c.4958A>G (p.Asn1653Ser) rs2138942613
NM_001330260.2(SCN8A):c.5047G>A (p.Asp1683Asn) rs1023188648
NM_001330260.2(SCN8A):c.5077_5091del (p.Asn1693_Cys1697del) rs1064796263
NM_001330260.2(SCN8A):c.5108C>A (p.Thr1703Asn) rs2138942878
NM_001330260.2(SCN8A):c.5170G>T (p.Asp1724Tyr) rs1176149836
NM_001330260.2(SCN8A):c.5256C>G (p.Ile1752Met)
NM_001330260.2(SCN8A):c.5360C>A (p.Thr1787Asn) rs1131691830
NM_001330260.2(SCN8A):c.5386G>A (p.Asp1796Asn)
NM_001330260.2(SCN8A):c.5412G>C (p.Glu1804Asp) rs765354280
NM_001330260.2(SCN8A):c.5417G>A (p.Cys1806Tyr) rs796053226
NM_001330260.2(SCN8A):c.5480T>C (p.Ile1827Thr) rs1938719619
NM_001330260.2(SCN8A):c.5506A>T (p.Met1836Leu) rs202187894
NM_001330260.2(SCN8A):c.550A>G (p.Ile184Val) rs1029149299
NM_001330260.2(SCN8A):c.5531G>C (p.Cys1844Ser)
NM_001330260.2(SCN8A):c.5547T>G (p.Phe1849Leu) rs2138943950
NM_001330260.2(SCN8A):c.5564T>A (p.Val1855Asp) rs2138943984
NM_001330260.2(SCN8A):c.5584T>G (p.Leu1862Val)
NM_001330260.2(SCN8A):c.5596C>T (p.Arg1866Trp) rs1938723469
NM_001330260.2(SCN8A):c.5597G>A (p.Arg1866Gln) rs1555231108
NM_001330260.2(SCN8A):c.5598del (p.Gln1867fs) rs2138944107
NM_001330260.2(SCN8A):c.5672G>A (p.Arg1891His) rs1555231135
NM_001330260.2(SCN8A):c.5699T>C (p.Val1900Ala) rs1064796694
NM_001330260.2(SCN8A):c.5744T>C (p.Phe1915Ser) rs2138944589
NM_001330260.2(SCN8A):c.5835G>T (p.Pro1945=) rs776428412
NM_001330260.2(SCN8A):c.5852C>G (p.Thr1951Ser) rs2138944903
NM_001330260.2(SCN8A):c.5879G>T (p.Arg1960Leu)
NM_001330260.2(SCN8A):c.5887G>A (p.Glu1963Lys) rs1057518294
NM_001330260.2(SCN8A):c.5891_5894del (p.Gly1964fs) rs1555231202
NM_001330260.2(SCN8A):c.5904_5905del (p.Arg1968fs) rs1938738246
NM_001330260.2(SCN8A):c.5911A>G (p.Arg1971Gly)
NM_001330260.2(SCN8A):c.5936A>C (p.Lys1979Thr) rs1938739577
NM_001330260.2(SCN8A):c.658A>T (p.Arg220Ter)
NM_001330260.2(SCN8A):c.760G>A (p.Val254Met) rs1057518293
NM_001330260.2(SCN8A):c.813G>C (p.Gln271His)
NM_001330260.2(SCN8A):c.817T>C (p.Phe273Leu) rs796053234
NM_001330260.2(SCN8A):c.887G>A (p.Gly296Asp) rs1941653003
NM_001330260.2(SCN8A):c.914A>G (p.Tyr305Cys)
NM_001330260.2(SCN8A):c.928+5G>A rs2138736067
NM_001330260.2(SCN8A):c.980G>C (p.Ser327Thr)
NM_014191.4(SCN8A):c.615-1G>A rs1555217342
NM_014191.4(SCN8A):c.630T>C (p.Phe210=) rs2138716083

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