ClinVar Miner

List of variants reported as uncertain significance for hypogonadotropic hypogonadism 7 with or without anosmia by Baylor Genetics

Included ClinVar conditions (10):

CHARGE syndrome; Hypogonadotropic hypogonadism 7 with or without anosmia
Hypogonadotropic hypogonadism 7 with or without anosmia
Hypogonadotropic hypogonadism 7 with or without anosmia; Abnormality of the skeletal system; Anosmia; Intellectual disability
Hypogonadotropic hypogonadism 7 with or without anosmia; Cerebellar ataxia; Dysarthria
Hypogonadotropic hypogonadism 7 with or without anosmia; Hypogonadotropic hypogonadism 14 with or without anosmia
Hypogonadotropic hypogonadism 7 with or without anosmia; Hypogonadotropic hypogonadism 22 with or without anosmia
Hypogonadotropic hypogonadism 7 with or without anosmia; Leukodystrophy
Hypogonadotropic hypogonadism 7 with or without anosmia; Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome; Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
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
Isolated congenital hypogonadotropic hypogonadism

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000406.3(GNRHR):c.719G>A (p.Arg240Gln)	rs182531866	0.00012
NM_173648.4(CCDC141):c.187C>T (p.Leu63Phe)	rs2043530237

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