ClinVar Miner

List of variants studied for Syndromic X-linked intellectual disability 14 by Fulgent Genetics, Fulgent Genetics

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_080632.3(UPF3B):c.846+1G>A rs373920032 0.00001
NM_080632.3(UPF3B):c.1436A>G (p.Glu479Gly)
NM_080632.3(UPF3B):c.263+5_263+18dup rs55712755
NM_080632.3(UPF3B):c.263+9_263+18dup rs55712755

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