ClinVar Miner

List of variants reported as benign for congenital hypogonadotropic hypogonadism by Mendelics

Included ClinVar conditions (68):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_025000.4(DCAF17):c.322-14C>T rs192861143 0.20151
NM_017780.4(CHD7):c.2230G>A (p.Gly744Ser) rs141947938 0.00470
NM_000515.5(GH1):c.152T>A (p.Phe51Tyr) rs61735357 0.00414
NM_000475.5(NR0B1):c.376G>A (p.Val126Met) rs193205940 0.00068
NM_004807.3(HS6ST1):c.1144C>T (p.Arg382Trp) rs199538589 0.00063
NM_017780.4(CHD7):c.2053_2058dup (p.Ala685_Lys686dup) rs377139749
NM_025000.4(DCAF17):c.732+70dup rs58636477

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.