ClinVar Miner

List of variants reported for Hypogonadotropic hypogonadism 7 with or without anosmia; Obesity; Downslanted palpebral fissures; Narrow forehead; Round face; Specific learning disability; Micropenis; Rod-cone dystrophy; Postaxial hand polydactyly; Flat nasal alae by Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences

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Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_001195305.3(BBIP1):c.109C>T (p.Gln37Ter) rs1590746439

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