ClinVar Miner

List of variants studied for cognitive impairment with or without cerebellar ataxia by New York Genome Center

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001330260.2(SCN8A):c.1264C>A (p.Leu422Met) rs2138748384
NM_001330260.2(SCN8A):c.2491G>A (p.Glu831Lys) rs1555225505
NM_001330260.2(SCN8A):c.3245A>T (p.Asp1082Val) rs2138868846
NM_001330260.2(SCN8A):c.3367A>C (p.Lys1123Gln) rs1555226186
NM_001330260.2(SCN8A):c.3820-1G>T rs1373881732

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