ClinVar Miner

List of variants in gene POU1F1 reported as uncertain significance for congenital hypogonadotropic hypogonadism

Included ClinVar conditions (68):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000306.4(POU1F1):c.370A>G (p.Met124Val) rs143373007 0.00183
NM_000306.4(POU1F1):c.252C>T (p.His84=) rs4988460 0.00098
NM_000306.4(POU1F1):c.*141A>T rs552876873 0.00088
NM_000306.4(POU1F1):c.27T>C (p.Ala9=) rs35560664 0.00022
NM_000306.4(POU1F1):c.*245A>G rs771316195 0.00013
NM_000306.4(POU1F1):c.427C>A (p.Arg143=) rs142046308 0.00010
NM_000306.4(POU1F1):c.90T>A (p.Ser30Arg) rs543096490 0.00009
NM_000306.4(POU1F1):c.439+4T>C rs199746697 0.00008
NM_000306.4(POU1F1):c.456T>C (p.Asn152=) rs886058914 0.00003
NM_000306.4(POU1F1):c.-48T>C rs771498395 0.00001
NM_000306.4(POU1F1):c.604+9T>C rs374875206 0.00001
NM_000306.4(POU1F1):c.667A>G (p.Ile223Val) rs770960302 0.00001
NM_000306.4(POU1F1):c.-105T>C rs886058915
NM_000306.4(POU1F1):c.143-64T>G rs1064796954
NM_000306.4(POU1F1):c.439+12T>C rs780655005
NM_000306.4(POU1F1):c.486C>T (p.Gly162=) rs1706526416

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.