ClinVar Miner

List of variants reported as uncertain significance for Joubert syndrome 25 by Dubai Health Genomic Medicine Center, Dubai Health

Included ClinVar conditions (2):

Joubert syndrome 25
Joubert syndrome 25; Intellectual developmental disorder, autosomal recessive 77

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)

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_014704.4(CEP104):c.583T>G (p.Ser195Ala)	rs760840197	0.00005
NM_014704.4(CEP104):c.485A>G (p.Asn162Ser)	rs867268929	0.00001

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