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rs864309668

From SNPedia

ClinVar
Risk rs864309668(;)
Alt rs864309668(;)
Reference rs864309668(AGAC;AGAC)
Significance Pathogenic
Disease Microcephaly
Variation info
Gene NBN
CLNDBN Microcephaly, normal intelligence and immunodeficiency
Reversed 1
HGVS NC_000008.10:g.90982650_90982653delTCTG
CLNSRC OMIM Allelic Variant
CLNACC RCV000007356.4,