ClinVar Miner

List of variants studied for congenital hypogonadotropic hypogonadism by Institute of Human Genetics, University Hospital of Duesseldorf

Included ClinVar conditions (69):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_006261.5(PROP1):c.150del (p.Arg53fs) rs587776683 0.00006
NM_017780.4(CHD7):c.500C>T (p.Pro167Leu) rs61742851 0.00002
NM_019066.5(MAGEL2):c.2941C>T (p.Leu981Phe)
NM_207111.4(RNF216):c.1616A>G (p.Tyr539Cys) rs148642312

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