List of variants reported as pathogenic for Laron-type isolated somatotropin defect by Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000163.5(GHR):c.718T>C (p.Tyr240His)	rs143814221	0.00024
NM_000163.5(GHR):c.703C>T (p.Arg235Ter)	rs121909363	0.00008
NM_000163.5(GHR):c.168C>A (p.Cys56Ter)	rs121909359	0.00001
NM_000163.5(GHR):c.508G>C (p.Asp170His)	rs121909366	0.00001
NM_000163.5(GHR):c.364T>C (p.Trp122Arg)	rs190314158
NM_000163.5(GHR):c.945G>A (p.Lys315=)	rs1554040858

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