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rs797044630

From SNPedia

ClinVar
Risk rs797044630(AGCTGAGCCATCC;AGCTGAGCCATCC)
Alt rs797044630(AGCTGAGCCATCC;AGCTGAGCCATCC)
Reference rs797044630(CG;CG)
Significance Pathogenic
Disease Kabuki make-up syndrome
Variation info
Gene KMT2D
CLNDBN Kabuki make-up syndrome
Reversed 1
HGVS NC_000012.11:g.49444718_49444719delCGinsGGATGGCTCAGCT
CLNSRC
CLNACC RCV000173776.1,