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rs796052862

From SNPedia

ClinVar
Risk rs796052862(AGCCG;AGCCG)
Alt rs796052862(AGCCG;AGCCG)
Reference rs796052862(;)
Significance Pathogenic
Disease Early infantile epileptic encephalopathy 10 not provided
Variation info
Gene PNKP
CLNDBN Early infantile epileptic encephalopathy 10 not provided
Reversed 1
HGVS NC_000019.9:g.50364930_50364934dupCGGCT
CLNSRC
CLNACC RCV000174913.1, RCV000188475.1,