ClinVar Miner

List of variants studied for hypogonadotropic hypogonadism 7 with or without anosmia by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000406.3(GNRHR):c.416G>A (p.Arg139His)	rs104893842	0.00021
NM_001166114.2(PNPLA6):c.4045C>T (p.Arg1349Trp)	rs374434303	0.00006
NM_000406.3(GNRHR):c.511G>A (p.Ala171Thr)	rs74452732
NM_001166114.2(PNPLA6):c.898C>G (p.Pro300Ala)	rs1057518936
NM_012431.3(SEMA3E):c.944T>G (p.Leu315Arg)	rs1788311962
NM_018117.12(WDR11):c.373C>T (p.Gln125Ter)	rs1846091309

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