ClinVar Miner

List of variants in gene SCN8A studied for Cognitive impairment with or without cerebellar ataxia

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Total variants: 63
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HGVS dbSNP gnomAD frequency
NM_001330260.2(SCN8A):c.4796-38C>A rs303828 0.86075
NM_001330260.2(SCN8A):c.576C>T (p.Asp192=) rs4761829 0.81114
NM_001330260.2(SCN8A):c.1135-48C>T rs2291265 0.78368
NM_001330260.2(SCN8A):c.3490+20G>A rs303808 0.76481
NM_001330260.2(SCN8A):c.4509T>C (p.Pro1503=) rs303815 0.62374
NM_001330260.2(SCN8A):c.1779G>C (p.Glu593Asp) rs760717246 0.00005
NM_001330260.2(SCN8A):c.5156_5157del (p.Pro1719fs) rs587776703 0.00003
NM_001330260.2(SCN8A):c.5719C>T (p.Arg1907Trp) rs760444517 0.00003
NM_001330260.2(SCN8A):c.1519G>C (p.Glu507Gln) rs777851383 0.00002
NM_001330260.2(SCN8A):c.3152C>T (p.Ala1051Val) rs376547086 0.00001
NM_001330260.2(SCN8A):c.3449A>C (p.Gln1150Pro) rs1050488287 0.00001
NM_001330260.2(SCN8A):c.1094G>A (p.Arg365His) rs1592390511
NM_001330260.2(SCN8A):c.1150G>A (p.Gly384Arg) rs2138748007
NM_001330260.2(SCN8A):c.1226T>C (p.Val409Ala) rs2138748239
NM_001330260.2(SCN8A):c.1403AAG[1] (p.Glu469del)
NM_001330260.2(SCN8A):c.1483_1484insT (p.Arg495fs) rs2138750383
NM_001330260.2(SCN8A):c.1676A>G (p.His559Arg)
NM_001330260.2(SCN8A):c.1984C>T (p.Arg662Cys) rs76222829
NM_001330260.2(SCN8A):c.2016A>C (p.Glu672Asp)
NM_001330260.2(SCN8A):c.2167T>G (p.Trp723Gly)
NM_001330260.2(SCN8A):c.2225T>C (p.Leu742Pro)
NM_001330260.2(SCN8A):c.2234T>C (p.Ile745Thr) rs1942593819
NM_001330260.2(SCN8A):c.2371-32A>C rs303767
NM_001330260.2(SCN8A):c.2491G>A (p.Glu831Lys) rs1555225505
NM_001330260.2(SCN8A):c.2531G>A (p.Arg844Gln) rs1476532344
NM_001330260.2(SCN8A):c.2545-7dup rs56879517
NM_001330260.2(SCN8A):c.2546T>A (p.Leu849His) rs1592149711
NM_001330260.2(SCN8A):c.2548C>G (p.Arg850Gly) rs1555225782
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln)
NM_001330260.2(SCN8A):c.2620G>A (p.Ala874Thr) rs1057524820
NM_001330260.2(SCN8A):c.2685A>C (p.Gln895His)
NM_001330260.2(SCN8A):c.2693del (p.Gly898fs) rs2138862836
NM_001330260.2(SCN8A):c.2734T>G (p.Cys912Gly)
NM_001330260.2(SCN8A):c.2812A>T (p.Ile938Phe)
NM_001330260.2(SCN8A):c.2935_2936delinsAA (p.Ser979Asn)
NM_001330260.2(SCN8A):c.2985C>A (p.Asn995Lys) rs1942879102
NM_001330260.2(SCN8A):c.3113A>G (p.Tyr1038Cys)
NM_001330260.2(SCN8A):c.3703G>A (p.Ala1235Thr) rs1942973895
NM_001330260.2(SCN8A):c.3793T>C (p.Cys1265Arg) rs1942975434
NM_001330260.2(SCN8A):c.3942+1387_4135del
NM_001330260.2(SCN8A):c.3964G>C (p.Gly1322Arg) rs2138904004
NM_001330260.2(SCN8A):c.3967G>A (p.Ala1323Thr) rs794727361
NM_001330260.2(SCN8A):c.4017dup (p.Ile1340fs)
NM_001330260.2(SCN8A):c.4082C>G (p.Ser1361Cys)
NM_001330260.2(SCN8A):c.4125_4126del (p.Glu1375_Cys1376insTer)
NM_001330260.2(SCN8A):c.4159A>G (p.Ile1387Val)
NM_001330260.2(SCN8A):c.4391T>C (p.Ile1464Thr) rs2138909658
NM_001330260.2(SCN8A):c.4876C>T (p.Arg1626Cys) rs2138942373
NM_001330260.2(SCN8A):c.4937T>C (p.Met1646Thr) rs2138942542
NM_001330260.2(SCN8A):c.4972C>T (p.Leu1658Phe) rs1938705231
NM_001330260.2(SCN8A):c.5284A>C (p.Ile1762Leu)
NM_001330260.2(SCN8A):c.5307C>A (p.Phe1769Leu)
NM_001330260.2(SCN8A):c.536del (p.Ala179fs)
NM_001330260.2(SCN8A):c.5375G>A (p.Trp1792Ter) rs1938715548
NM_001330260.2(SCN8A):c.5472C>A (p.Pro1824=) rs60637
NM_001330260.2(SCN8A):c.5620G>C (p.Val1874Leu) rs781602116
NM_001330260.2(SCN8A):c.5761A>G (p.Thr1921Ala) rs368796221
NM_001330260.2(SCN8A):c.614+1G>A rs1941433358
NM_001330260.2(SCN8A):c.676C>G (p.Arg226Gly) rs1323578421
NM_001330260.2(SCN8A):c.718A>G (p.Ile240Val) rs1064793923
NM_001330260.2(SCN8A):c.718A>T (p.Ile240Phe) rs1064793923
NM_001330260.2(SCN8A):c.825del (p.Asn276fs) rs2138735784
NM_001330260.2(SCN8A):c.971G>A (p.Cys324Tyr) rs2138739035

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