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rs797045290

From SNPedia

ClinVar
Risk rs797045290(CAAAG;CAAAG)
Alt rs797045290(CAAAG;CAAAG)
Reference rs797045290(;)
Significance Pathogenic
Disease Lissencephaly 2
Variation info
Gene ARX
CLNDBN Lissencephaly 2, X-linked
Reversed 1
HGVS NC_000023.10:g.25025511_25025512insCTTTG
CLNSRC
CLNACC RCV000194939.1,