ClinVar Miner

List of variants studied for childhood-onset epilepsy syndrome by Centre for Inherited Metabolic Diseases, Karolinska University Hospital

Included ClinVar conditions (90):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000744.7(CHRNA4):c.851C>T (p.Ser284Leu) rs28931591
NM_001271.4(CHD2):c.2435T>C (p.Ile812Thr) rs2141836224
NM_001271.4(CHD2):c.4026dup (p.Lys1343fs)

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