ClinVar Miner

List of variants reported as likely pathogenic for cognitive impairment with or without cerebellar ataxia

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
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HGVS dbSNP gnomAD frequency
NC_000012.11:g.52199766_52388207del
NM_001330260.2(SCN8A):c.109_137del (p.Pro37fs)
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.2824_2825insA (p.Trp942Ter) rs2138863024
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.4090C>T (p.Arg1364Ter)
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.4877G>A (p.Arg1626His)
NM_001330260.2(SCN8A):c.4937T>C (p.Met1646Thr) rs2138942542
NM_001330260.2(SCN8A):c.536del (p.Ala179fs)
NM_001330260.2(SCN8A):c.5606T>C (p.Met1869Thr) rs1064794727
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
NM_001330260.2(SCN8A):c.737A>G (p.Gln246Arg)
NM_014191.4(SCN8A):c.676A>G (p.Arg226Gly) rs1592380687
NM_014191.4(SCN8A):c.697G>A (p.Val233Ile) rs1592380699

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