ClinVar Miner

List of variants studied for Intellectual disability, autosomal dominant 13 by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001376.5(DYNC1H1):c.10573C>T (p.Arg3525Cys) rs869312693
NM_001376.5(DYNC1H1):c.10939C>G (p.Pro3647Ala) rs2152594696
NM_001376.5(DYNC1H1):c.2868+2_2868+5delinsCCACAAA rs2141276717
NM_001376.5(DYNC1H1):c.5873A>G (p.Asp1958Gly) rs2503746851

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