ClinVar Miner

List of variants studied for epilepsy by North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust

Included ClinVar conditions (438):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001127222.2(CACNA1A):c.4089+1G>A
NM_001182.5(ALDH7A1):c.1301_1302del (p.Tyr434fs) rs753671880
NM_001182.5(ALDH7A1):c.902A>T (p.Asn301Ile) rs121912711
NM_001271.4(CHD2):c.625del (p.Asp209fs)

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