ClinVar Miner

List of variants in gene NEK8 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

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HGVS	dbSNP	gnomAD frequency
NM_178170.3(NEK8):c.1795C>T (p.Arg599Ter)	rs375661404	0.00007
NM_178170.3(NEK8):c.1100G>C (p.Ser367Thr)	rs374175041	0.00006

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