ClinVar Miner

List of variants studied for developmental and epileptic encephalopathy 99 by Center of Excellence for Medical Genomics, Chulalongkorn University

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn)
NM_152296.5(ATP1A3):c.2479A>T (p.Arg827Trp)
NM_152296.5(ATP1A3):c.2552A>C (p.Gln851Pro)

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