ClinVar Miner

List of variants studied for congenital hypogonadotropic hypogonadism by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (68):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_019066.5(MAGEL2):c.2660G>A (p.Arg887Gln) rs199772480 0.00014
NM_012431.3(SEMA3E):c.2143C>A (p.Gln715Lys) rs538244011 0.00002
NM_012414.4(RAB3GAP2):c.1276C>T (p.Arg426Cys) rs587777167 0.00001
NM_000475.5(NR0B1):c.1267del (p.His423fs) rs1569268048
NM_002487.3(NDN):c.533G>A (p.Arg178Lys) rs1555376130
NM_017780.4(CHD7):c.3710A>T (p.Asn1237Ile) rs775459114
NM_017780.4(CHD7):c.8278AATCTCCAG[1] (p.2760NLQ[1]) rs747665912
NM_207111.4(RNF216):c.202-1G>C rs1562451985

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.