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rs797045895

From SNPedia

ClinVar
Risk rs797045895(;)
Alt rs797045895(;)
Reference rs797045895(TTC;TTC)
Significance Probable-Pathogenic
Disease Hypomyelinating leukodystrophy 8
Variation info
Gene POLR3B
CLNDBN Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism
Reversed 0
HGVS NC_000012.11:g.106826243_106826245delCTT
CLNSRC
CLNACC RCV000195224.1,