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rs587783635

From SNPedia

ClinVar
Risk
Alt
Reference Rs587783635(CGCGGGGCGCCCCGGC;CGCGGGGCGCCCCGGC)
Significance Pathogenic
Disease Rett syndrome
Variation info
Gene FOXG1
CLNDBN Rett syndrome, congenital variant
Reversed 0
HGVS NC_000014.8:g.29236748_29236763del16
CLNSRC
CLNACC RCV000145987.2,