ClinVar Miner

List of variants studied for Intellectual disability, autosomal recessive 58 by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_018255.4(ELP2):c.617A>G (p.His206Arg) rs773432002 0.00001
NM_018255.4(ELP2):c.418C>T (p.Arg140Ter)
NM_018255.4(ELP2):c.907C>T (p.Gln303Ter)

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