ClinVar Miner

List of variants in gene LEPR reported as pathogenic for congenital hypogonadotropic hypogonadism

Included ClinVar conditions (69):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_002303.6(LEPR):c.1835G>A (p.Arg612His) rs144159890 0.00036
NM_002303.6(LEPR):c.2597+1G>A rs1474810899
NM_002303.6(LEPR):c.3268_3269dup (p.Ser1090fs) rs1553174844
NM_002303.6(LEPR):c.464A>C (p.Tyr155Ser) rs1557670950
Single allele

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