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rs587777288

From SNPedia

ClinVar
Risk rs587777288(GCCGGGAGGCCCGCGCCC,C;GCCGGGAGGCCCGCGCCC,C)
Alt rs587777288(GCCGGGAGGCCCGCGCCC,C;GCCGGGAGGCCCGCGCCC,C)
Reference rs587777288(GGCGCGGGCCTCCCGGCC;GGCGCGGGCCTCCCGGCC)
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,