ClinVar Miner

List of variants studied for Laron syndrome by Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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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.12G>C (p.Trp4Cys) rs1554020272
NM_000163.5(GHR):c.364T>C (p.Trp122Arg) rs190314158
NM_000163.5(GHR):c.945G>A (p.Lys315=) rs1554040858

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