ClinVar Miner

List of variants in gene CDH23 reported as pathogenic by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

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)
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_022124.6(CDH23):c.6050-9G>A	rs367928692	0.00006
NM_022124.6(CDH23):c.6285dup (p.Glu2096Ter)	rs1564796487

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