List of variants reported as pathogenic for syndrome caused by partial chromosomal deletion by Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_016628.5(WAC):c.1437+1G>A	rs1554791124
NM_030665.4(RAI1):c.3192_3195del (p.Glu1065fs)	rs1598091391
NM_030665.4(RAI1):c.4673dup (p.Arg1559fs)	rs1555566042

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