ClinVar Miner

List of variants studied for Intellectual disability, autosomal recessive 58 by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_018255.4(ELP2):c.1657C>T (p.Gln553Ter) rs1400164869 0.00003
NM_018255.4(ELP2):c.1385G>A (p.Arg462Gln) rs371310428 0.00002

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