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rs863225251

From SNPedia

ClinVar
Risk rs863225251(ACTGCTCAT;ACTGCTCAT)
Alt rs863225251(ACTGCTCAT;ACTGCTCAT)
Reference rs863225251(C;C)
Significance Pathogenic
Disease Leukoencephalopathy with ataxia
Variation info
Gene CLCN2
CLNDBN Leukoencephalopathy with ataxia
Reversed 1
HGVS NC_000003.11:g.184073539delGinsATGAGCAGT
CLNSRC
CLNACC RCV000201830.1,