ClinVar Miner

List of variants studied for Short stature, idiopathic, autosomal

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Total variants: 15
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HGVS dbSNP
NM_000163.5(GHR):c.-12+643G>A
NM_000163.5(GHR):c.1003G>A (p.Glu335Lys)
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.497G>A (p.Gly166Glu) rs761856079
NM_000163.5(GHR):c.535C>T (p.Arg179Cys) rs121909362
NM_000163.5(GHR):c.559T>C (p.Trp187Arg) rs886037910
NM_000163.5(GHR):c.686G>A (p.Arg229His) rs6177
NM_000163.5(GHR):c.718T>C (p.Tyr240His) rs143814221
NM_000163.5(GHR):c.726G>C (p.Glu242Asp) rs45588036
NM_000163.5(GHR):c.876-1G>C rs730880308
NM_198407.2(GHSR):c.*1554C>T rs754352155
NM_198407.2(GHSR):c.*1676_*1679del rs150657222
NM_198407.2(GHSR):c.*1880delA rs5854471
NM_198407.2(GHSR):c.*561_*568del rs146582211

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