ClinVar Miner

List of variants in gene GHR reported as likely benign for Laron syndrome

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000163.5(GHR):c.*2169C>T rs28943876 0.00826
NM_000163.5(GHR):c.535C>T (p.Arg179Cys) rs121909362 0.00410
NM_000163.5(GHR):c.*1936T>C rs144506757 0.00128
NM_000163.5(GHR):c.1542T>G (p.Cys514Trp) rs148945224 0.00101
NM_000163.5(GHR):c.*836G>C rs371249176 0.00078
NM_000163.5(GHR):c.1483C>A (p.Pro495Thr) rs6183 0.00068
NM_000163.5(GHR):c.*1611G>A rs543135249 0.00053
NM_000163.5(GHR):c.206C>T (p.Thr69Ile) rs75028043 0.00002

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