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rs387906328

From SNPedia

ClinVar
Risk
Alt
Reference Rs387906328(CGGAGGAAGTTTCTTTACC;CGGAGGAAGTTTCTTTACC)
Significance Pathogenic
Disease Immunodeficiency with hyper IgM type 2
Variation info
Gene AICDA
CLNDBN Immunodeficiency with hyper IgM type 2
Reversed 1
HGVS NC_000012.11:g.8759578_8759596del19
CLNSRC OMIM Allelic Variant
CLNACC RCV000005436.3,