ClinVar Miner

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

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_018255.4(ELP2):c.1384C>T (p.Arg462Trp) rs767713084 0.00003
NM_018255.4(ELP2):c.617A>G (p.His206Arg) rs773432002 0.00001
NM_018255.4(ELP2):c.1385G>T (p.Arg462Leu) rs371310428
NM_018255.4(ELP2):c.1663A>C (p.Thr555Pro) rs772450541

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