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rs587777288

From SNPedia

ClinVar
Risk Rs587777288(GCCGGGAGGCCCGCGCC;GCCGGGAGGCCCGCGCC) rs587777288(-;-)
Alt Rs587777288(GCCGGGAGGCCCGCGCC;GCCGGGAGGCCCGCGCC) rs587777288(-;-)
Reference rs587777288(GGCGCGGGCCTCCCGGC;GGCGCGGGCCTCCCGGC)
Significance Pathogenic
Disease Short stature
Variation info
Gene GSC
CLNDBN Short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities
Reversed 1
HGVS NC_000014.8:g.95236141_95236157del17
CLNSRC OMIM Allelic Variant
CLNACC RCV000114411.2,