ClinVar Miner

List of variants studied for Intellectual disability, autosomal recessive 58 by Revvity Omics, Revvity

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_018255.4(ELP2):c.178C>T (p.Arg60Ter) rs553697188 0.00002
NM_018255.4(ELP2):c.1544C>T (p.Ala515Val)
NM_018255.4(ELP2):c.1923G>A (p.Trp641Ter)
NM_018255.4(ELP2):c.212A>G (p.Asp71Gly)
NM_018255.4(ELP2):c.445G>T (p.Val149Leu)

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