ClinVar Miner

List of variants studied for Intellectual disability, autosomal recessive 56 by Baylor Genetics

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_024824.5(ZC3H14):c.853A>T (p.Ser285Cys) rs145521296 0.00177
NM_024824.5(ZC3H14):c.1133A>G (p.Lys378Arg) rs778564417 0.00004
NM_024824.5(ZC3H14):c.1280-1856A>G rs538186371 0.00003
NM_024824.5(ZC3H14):c.311G>A (p.Arg104Gln) rs772949764 0.00001
NM_024824.5(ZC3H14):c.1232C>T (p.Pro411Leu) rs201527519

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