ClinVar Miner

List of variants studied for Syndromic X-linked intellectual disability 14 by OMIM

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_080632.3(UPF3B):c.1288C>T (p.Arg430Ter) rs122468181
NM_080632.3(UPF3B):c.478T>G (p.Tyr160Asp) rs122468182
NM_080632.3(UPF3B):c.674_677del (p.Arg225fs) rs794727881
NM_080632.3(UPF3B):c.867_868del (p.Gly290fs) rs1603370185

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