ClinVar Miner

List of variants reported as likely pathogenic for Joubert syndrome 25 by Labcorp Genetics (formerly Invitae), Labcorp

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_014704.4(CEP104):c.1485+1G>A	rs781134558	0.00007
NM_014704.4(CEP104):c.1317+2T>G
NM_014704.4(CEP104):c.1659+1G>A

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