ClinVar Miner

List of variants studied for precocious puberty by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (10):

Autism; Precocious puberty; Autistic behavior; Expressive language delay; Hyperactivity; Hearing impairment; Pes planus; Macrocephaly; Anxiety; Tremor; Attention deficit hyperactivity disorder
Central precocious puberty
Central precocious puberty 1
Central precocious puberty 1; Hypogonadotropic hypogonadism 8 with or without anosmia
EEG abnormality; Coarse facial features; Delayed speech and language development; Intellectual disability, mild; Precocious puberty in females; Delayed fine motor development; Primary microcephaly
Gonadotropin-independent familial sexual precocity
Leydig cell agenesis; Gonadotropin-independent familial sexual precocity
Peripheral precocious puberty
Precocious puberty, central, 2
Precocious puberty; Overgrowth; Macrocephaly; Postaxial polydactyly

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_032551.5(KISS1R):c.305T>C (p.Leu102Pro)	rs104894703	0.00001
NM_000233.4(LHCGR):c.947+4_947+7del	rs1572817589

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