ClinVar Miner

List of variants in gene B9D1 reported as likely pathogenic for Joubert syndrome and related disorders

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_015681.6(B9D1):c.341G>A (p.Arg114Gln)	rs778260923	0.00001
NM_015681.6(B9D1):c.209T>C (p.Ile70Thr)	rs886039811

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