List of variants reported as pathogenic for syndrome caused by partial chromosomal deletion by Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_006940.6(SOX5):c.405dup (p.Lys136fs)	rs2096571436
NM_014112.5(TRPS1):c.1630C>T (p.Arg544Ter)	rs886040971
NM_014112.5(TRPS1):c.2725dup (p.Cys909fs)	rs1554617582
NM_022455.5(NSD1):c.6050G>A (p.Arg2017Gln)	rs587784177
NM_030665.4(RAI1):c.2966_2969del (p.Lys989fs)	rs1135401792

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