ClinVar Miner

List of variants in gene SCN8A reported as likely pathogenic for Cognitive impairment with or without cerebellar ataxia

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_001330260.2(SCN8A):c.1483_1484insT (p.Arg495fs) rs2138750383
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.2546T>A (p.Leu849His) rs1592149711
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.3942+1387_4135del
NM_001330260.2(SCN8A):c.3967G>A (p.Ala1323Thr) rs794727361
NM_001330260.2(SCN8A):c.4017dup (p.Ile1340fs)
NM_001330260.2(SCN8A):c.4125_4126del (p.Glu1375_Cys1376insTer)
NM_001330260.2(SCN8A):c.4391T>C (p.Ile1464Thr) rs2138909658
NM_001330260.2(SCN8A):c.4937T>C (p.Met1646Thr) rs2138942542
NM_001330260.2(SCN8A):c.536del (p.Ala179fs)
NM_001330260.2(SCN8A):c.5620G>C (p.Val1874Leu) rs781602116
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

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