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rs587784312

From SNPedia

ClinVar
Risk rs587784312(-;-) Rs587784312(GCAGCCCCTG;GCAGCCCCTG)
Alt rs587784312(-;-) Rs587784312(GCAGCCCCTG;GCAGCCCCTG)
Reference rs587784312(CCTGGCAGCC;CCTGGCAGCC)
Significance Pathogenic
Disease Microcephalic osteodysplastic primordial dwarfism type 2
Variation info
Gene PCNT
CLNDBN Microcephalic osteodysplastic primordial dwarfism type 2
Reversed 0
HGVS NC_000021.8:g.47831714_47831723delCCTGGCAGCC
CLNSRC
CLNACC RCV000147153.1,