Table 1 Variants in the leptin gene listed in the ExAC database and reported in the literature to cause congenital leptin deficiency in the homozygous state
From: Estimated prevalence of potentially damaging variants in the leptin gene
Variant | Allele number | Allele frequency | Allele count | Homozygous | Population |
|---|---|---|---|---|---|
p.Gly133Valfs*15 | 120,412 | 0.00003322 | 4 | 0 | South Asian |
p.Asn103Lys | 121,400 | 0.00001647 | 2 | 0 | European (non-Finnish) |
p.Ile35del | 120,412 | 0.00001647 | 2 | 0 | South Asian & European (non-Finnish) |