ClinVar Miner

List of variants reported as pathogenic for Syndromic X-linked intellectual disability 14 by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_080632.3(UPF3B):c.1166_1167del (p.Lys389fs)	rs2147783395
NM_080632.3(UPF3B):c.442_443del (p.Asp148fs)
NM_080632.3(UPF3B):c.674_677del (p.Arg225fs)	rs794727881

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