ClinVar Miner

List of variants studied for cognitive impairment with or without cerebellar ataxia by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001330260.2(SCN8A):c.1779G>C (p.Glu593Asp) rs760717246 0.00005
NM_001330260.2(SCN8A):c.2685A>C (p.Gln895His)
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.4125_4126del (p.Glu1375_Cys1376insTer)
NM_001330260.2(SCN8A):c.4391T>C (p.Ile1464Thr) rs2138909658
NM_001330260.2(SCN8A):c.4972C>T (p.Leu1658Phe) rs1938705231
NM_001330260.2(SCN8A):c.5620G>C (p.Val1874Leu) rs781602116
NM_001330260.2(SCN8A):c.718A>T (p.Ile240Phe) rs1064793923

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