ClinVar Miner

List of variants reported as pathogenic for Short stature, idiopathic, autosomal by OMIM

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Total variants: 5
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NM_000163.5(GHR):c.184G>A (p.Glu62Lys) rs121909361
NM_000163.5(GHR):c.484G>A (p.Val162Ile) rs6413484
NM_000163.5(GHR):c.535C>T (p.Arg179Cys) rs121909362
NM_000163.5(GHR):c.726G>C (p.Glu242Asp) rs45588036
NM_000163.5(GHR):c.876-1G>C rs730880308

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