ClinVar Miner

List of variants reported as pathogenic for Laron syndrome by OMIM

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000163.5(GHR):c.703C>T (p.Arg235Ter) rs121909363 0.00008
NM_000163.5(GHR):c.594A>G (p.Glu198=) rs121909360 0.00002
NM_000163.5(GHR):c.168C>A (p.Cys56Ter) rs121909359 0.00001
NM_000163.5(GHR):c.504T>G (p.His168Gln) rs121909373 0.00001
NM_000163.5(GHR):c.508G>C (p.Asp170His) rs121909366 0.00001
NM_000163.5(GHR):c.102G>A (p.Trp34Ter) rs121909370
NM_000163.5(GHR):c.1734del (p.Arg578fs)
NM_000163.5(GHR):c.181C>T (p.Arg61Ter) rs121909358
NM_000163.5(GHR):c.192_193del (p.Ser65fs) rs1194378231
NM_000163.5(GHR):c.266+1G>A rs1009412984
NM_000163.5(GHR):c.303C>A (p.Cys101Ter) rs121909371
NM_000163.5(GHR):c.335G>C (p.Cys112Ser) rs121909372
NM_000163.5(GHR):c.341T>C (p.Phe114Ser) rs121909357
NM_000163.5(GHR):c.512T>C (p.Ile171Thr) rs121909367
NM_000163.5(GHR):c.515A>C (p.Gln172Pro) rs121909368
NM_000163.5(GHR):c.518T>G (p.Val173Gly) rs121909369
NM_000163.5(GHR):c.618+792A>G rs1011727375
NM_000163.5(GHR):c.619-1G>T rs730880281
NM_000163.5(GHR):c.743_744del (p.Tyr248fs)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.