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rs797045957

From SNPedia

ClinVar
Risk
Alt
Reference Rs797045957(CACCCCCAGTGCC;CACCCCCAGTGCC)
Significance Pathogenic
Disease Nager syndrome
Variation info
Gene SF3B4
CLNDBN Nager syndrome
Reversed 1
HGVS NC_000001.10:g.149897898_149897910delGGCACTGGGGGTG
CLNSRC
CLNACC RCV000193286.1,