ClinVar Miner

List of variants reported as likely pathogenic for congenital hypogonadotropic hypogonadism by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (68):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_006261.5(PROP1):c.358C>T (p.Arg120Cys) rs121917839 0.00005
NM_002303.6(LEPR):c.133_136dup (p.Tyr46Ter) rs757358893
NM_006261.5(PROP1):c.301_302del (p.Leu102fs) rs193922688
NM_017780.4(CHD7):c.4787A>T (p.Asp1596Val) rs1057521078
NM_017780.4(CHD7):c.6371T>C (p.Phe2124Ser)
NM_019066.5(MAGEL2):c.1687C>T (p.Gln563Ter) rs2140715275

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