List of variants studied for Syndromic X-linked intellectual disability 14 by Revvity Omics, Revvity

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_080632.3(UPF3B):c.1060C>T (p.Arg354Ter)	rs2056119926
NM_080632.3(UPF3B):c.388A>G (p.Ile130Val)
NM_080632.3(UPF3B):c.670G>T (p.Glu224Ter)	rs2147787331
NM_080632.3(UPF3B):c.674_677del (p.Arg225fs)	rs794727881
NM_080632.3(UPF3B):c.815G>A (p.Arg272Lys)
NM_080632.3(UPF3B):c.982G>T (p.Glu328Ter)	rs376175156

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