Extended Data Table 1 Allele counts of variants in the critical 18 bp region of RNU4-2 (chr12:120,291,825-120,291,842) in population controls and individuals with NDD

From: De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome

  1. Numbers in brackets in NDD count columns correspond to individuals with detailed clinical information in Table 1. *variant found in an additional sibling. **NHS GMS (n = 19); MSSNG (n = 2); SSC (n = 1); GREGoR (n = 10); Undiagnosed Diseases Network (UDN; n = 6); from personal communication/Matchmaker Exchange (n = 16).
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