ClinVar Miner

List of variants in gene NOS3 studied for premature menopause

Included ClinVar conditions (10):

Abnormality of the ovary; Premature ovarian insufficiency
Failure to thrive; Cutaneous photosensitivity; Cholestatic liver disease; Premature ovarian insufficiency; Global proximal tubulopathy
Neutropenia; Premature ovarian insufficiency
Premature ovarian failure
Premature ovarian insufficiency
Premature ovarian insufficiency; Endometriosis
Premature ovarian insufficiency; Female infertility
Sensorineural hearing loss disorder; Cerebellar ataxia; Cognitive impairment; Paroxysmal dystonia; Premature ovarian insufficiency; Peripheral neuropathy
Sensorineural hearing loss disorder; Myopathy; Premature ovarian insufficiency
Sensorineural hearing loss disorder; Premature ovarian insufficiency

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 2

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000603.5(NOS3):c.505G>A (p.Glu169Lys)	rs765854160	0.00001
NM_000603.5(NOS3):c.172C>T (p.Pro58Ser)	rs752309888

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