ClinVar Miner

List of variants reported as pathogenic for hypogonadotropic hypogonadism 7 with or without anosmia by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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: 6

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HGVS	dbSNP	gnomAD frequency
NM_000406.3(GNRHR):c.317A>G (p.Gln106Arg)	rs104893836	0.00234
NM_000406.3(GNRHR):c.268G>A (p.Glu90Lys)	rs104893844	0.00001
NM_000406.3(GNRHR):c.35del (p.Asn12fs)
NM_000406.3(GNRHR):c.504T>A (p.Ser168Arg)	rs104893840
NM_000406.3(GNRHR):c.521A>G (p.Gln174Arg)
NM_000406.3(GNRHR):c.847T>C (p.Tyr283His)

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