ClinVar Miner

List of variants in gene combination GH-LCR, GH1 reported by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000515.5(GH1):c.350A>G (p.Gln117Arg) rs142396035 0.00002
NM_000515.5(GH1):c.-5C>T
NM_000515.5(GH1):c.-5_-4delinsTG
NM_000515.5(GH1):c.117T>C (p.Ala39=)
NM_000515.5(GH1):c.291+1G>C rs71640277
NM_000515.5(GH1):c.615C>G (p.Ile205Met) rs148474991
NM_000515.5(GH1):c.7A>C (p.Thr3Pro) rs2001345

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.